E27* (p.Glu27Ter) variant of SMAD3 (SMAD family member 3)

E27* (p.Glu27Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E27* (p.Glu27Ter) variant details