L12H (p.Leu12His) variant of COL5A2 (Collagen alpha-2(V) chain)

L12H (p.Leu12His) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

L12H (p.Leu12His) variant details