A121T (p.Ala121Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)

A121T (p.Ala121Thr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

A121T (p.Ala121Thr) variant details