E448* (p.Glu448Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)

E448* (p.Glu448Ter) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.

E448* (p.Glu448Ter) variant details