L6V (p.Leu6Val) variant of COL7A1 (Collagen alpha-1(VII) chain)

L6V (p.Leu6Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

L6V (p.Leu6Val) variant details