F97C (p.Phe97Cys) variant of KRIT1 (O00522)

F97C (p.Phe97Cys) in KRIT1 (O00522) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CCM1. The record also includes structural context.

F97C (p.Phe97Cys) variant details