E53* (p.Glu53Ter) variant of COL6A3 (Collagen alpha-3(VI) chain)

E53* (p.Glu53Ter) in COL6A3 (Collagen alpha-3(VI) chain) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E53* (p.Glu53Ter) variant details