E38* (p.Glu38Ter) variant of COL5A2 (Collagen alpha-2(V) chain)

E38* (p.Glu38Ter) in COL5A2 (Collagen alpha-2(V) 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.

E38* (p.Glu38Ter) variant details