tooluniverse-protein-lof-mechanism

Installation
SKILL.md

Protein LoF Mechanism Synthesis

For a single missense variant, integrate 5 independent computational signals to propose a specific loss-of-function mechanism. Each signal answers a different question:

Signal Tool Answers
Pathogenicity AlphaMissense_get_variant_score "Is this variant damaging?"
Structural context alphafold_get_prediction "Is the mutation in a folded vs disordered region?"
Sequence likelihood ESM_score_sequence "Is the substitution evolutionarily plausible?"
Feature disruption ESM_explain_variant_mechanism (or ESM_score_variant_sae_disruption + ESM_describe_sae_feature for raw control) "Which biological feature breaks?"
Stability DynaMut2_predict_stability "Does the protein still fold correctly?"

When to use this skill

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May 26, 2026
tooluniverse-protein-lof-mechanism — mims-harvard/tooluniverse