V57F (p.Val57Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)

V57F (p.Val57Phe) in COL6A2 (Collagen alpha-2(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.

V57F (p.Val57Phe) variant details