Reduced protein stability of 11 pathogenic missense STXBP1/MUNC18-1 variants and improved disease prediction

CONCLUSIONS: These data establish intrinsic protein instability as the generalizable, primary cause for STXBP1-related disorders and show that protein-specific ortholog and 3D information improves disease prediction. PRESR is a publicly available diagnostic tool (PRESR.russelllab.org). …