F54V (p.Phe54Val) variant of PMP22 (Peripheral myelin protein 22)

F54V (p.Phe54Val) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

F54V (p.Phe54Val) variant details