D566H (p.Asp566His) variant of UBE3A (Ubiquitin-protein ligase E3A)

D566H (p.Asp566His) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

D566H (p.Asp566His) variant details