Q344R (p.Gln344Arg) variant of UBE3A (Ubiquitin-protein ligase E3A)

Q344R (p.Gln344Arg) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

Q344R (p.Gln344Arg) variant details