N223K (p.Asn223Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)

N223K (p.Asn223Lys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

N223K (p.Asn223Lys) variant details