E120* (p.Glu120Ter) variant of SMARCE1 (Q969G3)

E120* (p.Glu120Ter) in SMARCE1 (Q969G3) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E120* (p.Glu120Ter) variant details