Scientific task · Variant and perturbation effect

Protein clinical variant interpretation

Classify or prioritize protein variants for clinical relevance or pathogenicity.

蛋白质临床变异解读

ProteinVariant and perturbation effect

Definition and search aliases

Permanent ID
protein-clinical-variant-interpretation
Aliases
variant pathogenicity, clinical variant classification
Deprecated aliases
None
Hierarchy
Leaf task under Protein property and function prediction

Coverage

2 benchmark families cover this task

suitepartial

ProteinGym

Versioned deep-mutational-scanning and clinical-variant benchmarks for protein fitness prediction and design in zero-shot and supervised regimes.

Protein clinical variant interpretation
trackcomplete

ProteinGym Clinical Indels

ProteinGym track for classifying short human clinical insertion and deletion variants against ClinVar and gnomAD-derived labels.

Protein clinical variant interpretation
trackcomplete

ProteinGym Clinical Substitutions

ProteinGym track for classifying expert-annotated human clinical substitution variants on a per-protein basis.

Protein clinical variant interpretation

Evidence-backed count claims

Each row keeps its original unit and basis. Rows with different units or overlapping mappings are never added.

BenchmarkMapped taskCoverageCountVersionEvidence
LAB-Bench DbQA — Protein variant from sequence
root: lab-bench
Protein clinical variant interpretation
official-track · high
explicitly-in-scope100 questions
questions across public and private splits
repository-998a8e0lab-bench-dbqa-variant-from-sequence-evidence-paper
LAB-Bench DbQA — Protein variant with multiple sequences
root: lab-bench
Protein clinical variant interpretation
official-track · high
explicitly-in-scope100 questions
questions across public and private splits
repository-998a8e0lab-bench-dbqa-variant-multi-sequence-evidence-paper
ProteinGym
root: proteingym
Protein clinical variant interpretation
official-track · high
explicitly-in-scopeNot reported
Clinical substitution and indel tracks.
1.3proteingym-evidence-taxonomy
ProteinGym Clinical Indels
root: proteingym
Protein clinical variant interpretation
official-track · high
explicitly-in-scope1555 records
Clinical proteins.
1.3proteingym-clinical-indel-evidence-v13
ProteinGym Clinical Substitutions
root: proteingym
Protein clinical variant interpretation
official-track · high
explicitly-in-scope2525 records
Clinical proteins.
1.3proteingym-clinical-sub-evidence-v13

Official evaluations connected to these benchmarks

Runs are included only for benchmark records mapped here (and formal child tracks when a mapped suite is the root). A task mapping does not imply that every run isolates this task.

WorkProvider / classRelated runs
LAB-Bench: Measuring Capabilities of Language Models for Biology ResearchFutureHouse
benchmark_creator
lab-bench-dbqa-variant-from-sequence-creator-mcq
lab-bench-dbqa-variant-multi-sequence-creator-mcq
ProteinGym: Large-Scale Benchmarks for Protein Fitness Prediction and DesignUniversity of Oxford, Harvard Medical School, Seismic Therapeutic, Harvard University, Centre for Genomic Regulation, Universitat Pompeu Fabra, Broad Institute
benchmark_creator
proteingym-v10-dms-substitutions-zero-shot