S96L (p.Ser96Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)

S96L (p.Ser96Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

S96L (p.Ser96Leu) variant details