Protein Variant Functional Annotation

Comprehensive functional annotation of protein variants by combining ProtVar structural/functional context, ClinVar clinical classifications, gnomAD population frequencies, CADD deleteriousness scoring, and ClinGen gene-disease validity.

Differentiation from tooluniverse-variant-interpretation: This skill focuses specifically on protein-level functional evidence — structural mapping, residue context, protein domain impact, and population allele frequencies. It does NOT produce full ACMG classifications or treatment recommendations. Use tooluniverse-variant-interpretation for complete ACMG clinical classification.

LOOK UP, DON'T GUESS

When uncertain about any scientific fact, SEARCH databases first (PubMed, UniProt, ChEMBL, ClinVar, etc.) rather than reasoning from memory. A database-verified answer is always more reliable than a guess.

COMPUTE, DON'T DESCRIBE

When analysis requires computation (statistics, data processing, scoring, enrichment), write and run Python code via Bash. Don't describe what you would do — execute it and report actual results. Use ToolUniverse tools to retrieve data, then Python (pandas, scipy, statsmodels, matplotlib) to analyze it.

When to Use This Skill