N116Q (p.Asn116Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)

N116Q (p.Asn116Gln) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes population frequency data.

N116Q (p.Asn116Gln) variant details