D78H (p.Asp78His) variant of COL5A2 (Collagen alpha-2(V) chain)

D78H (p.Asp78His) 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.

D78H (p.Asp78His) variant details