R55A (p.Arg55Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)

R55A (p.Arg55Ala) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.

R55A (p.Arg55Ala) variant details