Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3.

ABSTRACT: The phosphatidylcholine floppase multidrug resistance protein 3 (MDR3) is an essential hepatobiliary transport protein. MDR3 dysfunction is associated with various liver diseases, ranging from severe progressive familial intrahepatic cholestasis to transient forms of intrahepatic cholestasis of pregnancy and familial gallstone disease. Single amino acid substitutions are often found as causative of dysfunction, but identifying the substitution effect in in vitro studies is time and cost intensive. We developed variant assessor of MDR3 (Vasor), a machine learning-based model to classify novel MDR3 missense variants into the categories benign or pathogenic. Vasor was trained on the largest data set to date that is specific for benign and pathogenic variants of MDR3 and uses general predictor

SUBMITTER: Behrendt A 

PROVIDER: S-EPMC9592774 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature