S45C (p.Ser45Cys) variant of COL6A1 (Collagen alpha-1(VI) chain)

S45C (p.Ser45Cys) in COL6A1 (Collagen alpha-1(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.

S45C (p.Ser45Cys) variant details