Mechanism-aware variant interpretation pipeline for monogenic epilepsy: RF + ESM-2 LoRA pathogenicity heads, gain-vs-loss-of-function mechanism classifier, sodium-channel prescribing rule, leave-one-out dynamic-evidence framework.

Computational analysis and classification of Variants of Unknown Significance (VUS) in the BCS1L gene associated with Björnstad Syndrome. Implements a conservation score-based algorithm using BLASTp homologous sequences, MUSCLE alignment, and phylogenetic analysis to classify variants as pathogenic or benign.