H274D (p.His274Asp) variant of UBE3A (Ubiquitin-protein ligase E3A)

H274D (p.His274Asp) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

H274D (p.His274Asp) variant details