Evolutionary conservation is a fundamental resource for predicting the substitutability of amino acids and the loss of function in proteins. The use of multiple sequence alignment alone—without consid
P311 is a highly conserved multifunctional protein. However, it does not belong to any established family of proteins, and its biological function has not been entirely determined. This study aims to
Performance of NetDiseaseSNP and other state-of-the art predictors. The evaluation was performed only on the variants for which a SIFT PSSM was available. This excludes data obtained from Blosum62 mat
Additional file 2 Significantly enriched pathways from GSEA. This.html file contains plots showing significantly enriched pathways for each outcome variable. GSEAs are based on meta-analyzed TWAS resu
