N49H (p.Asn49His) variant of PMP22 (Peripheral myelin protein 22)

N49H (p.Asn49His) 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.

N49H (p.Asn49His) variant details