Medical & Healthcare
Interpret a missense variant via ESMC-6B Sparse Autoencoder (SAE) feature activations. For a given protein + variant, computes which interpretable SAE features (catalytic, ligand-binding, PTM, structural motif, domain, etc.) are lost or gained at the mutation site. Use when standard pathogenicity scores (AlphaMissense, ClinVar) say a variant is damaging but you need a MECHANISTIC explanation — e.g. 'why is this variant LoF?' Complements (does not replace) variant-interpretation and variant-to-mechanism skills, which focus on ACMG classification or regulatory mechanism.
Publisher / source
mims-harvard/ToolUniverse (found on GitHub top repositories)
Upstream record
Version
Version 1
Published
2026-11-11
Publication review
Approved for publication
Content fingerprint
308365b4038c7606f23562b5033cc292aa48136acfe6c44e74057c0be20b9b67
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Source: https://prompeteer.ai/skills-hub/d26dec03-9ec5-4846-8962-0a6322472ab0