S56L (p.Ser56Leu) variant of PMP22 (Peripheral myelin protein 22)

S56L (p.Ser56Leu) 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.

S56L (p.Ser56Leu) variant details