E53D (p.Glu53Asp) variant of COL6A3 (Collagen alpha-3(VI) chain)

E53D (p.Glu53Asp) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E53D (p.Glu53Asp) variant details