C74W (p.Cys74Trp) variant of NPC1 (O15118)

C74W (p.Cys74Trp) in NPC1 (O15118) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in NPC1. The record also includes structural context.

C74W (p.Cys74Trp) variant details