F126V (p.Phe126Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)

F126V (p.Phe126Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

F126V (p.Phe126Val) variant details