Contrasting impacts of two ABCB11 variants affecting the same residue in progressive familial intrahepatic cholestasis type 2

<jats:p>Patients with progressive familial intrahepatic cholestasis type 2 (PFIC2) due to ATP-binding cassette subfamily B member 11 ( ABCB11) missense variations may present various phenotypes and exhibit different response patterns to treatments. This study exemplifies this variability and provides an in silico and in vitro framework for characterizing and classifying ABCB11 missense variants. This classification could serve to guide treatment strategies, stratify patients with missense variants in clinical trials, and predict patient outcomes.</jats:p>