G422D (p.Gly422Asp) variant of UBE3A (Ubiquitin-protein ligase E3A)

G422D (p.Gly422Asp) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

G422D (p.Gly422Asp) variant details