Medical & Healthcare

Tooluniverse Protein SAE Variant Interpretation

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
mims-harvard/ToolUniverse
Version
Version 1
Published
Publication review
Approved for publication
Content fingerprint
308365b4038c7606f23562b5033cc292aa48136acfe6c44e74057c0be20b9b67