D189N (p.Asp189Asn) variant of UBE3A (Ubiquitin-protein ligase E3A)

D189N (p.Asp189Asn) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

D189N (p.Asp189Asn) variant details