E56* (p.Glu56Ter) variant of COL4A5 (Collagen alpha-5(IV) chain)

E56* (p.Glu56Ter) in COL4A5 (Collagen alpha-5(IV) 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.

E56* (p.Glu56Ter) variant details