K42N (p.Lys42Asn) variant of PRPH2 (Peripherin-2)

K42N (p.Lys42Asn) in PRPH2 (Peripherin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

K42N (p.Lys42Asn) variant details