L551S (p.Leu551Ser) variant of UBE3A (Ubiquitin-protein ligase E3A)

L551S (p.Leu551Ser) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

L551S (p.Leu551Ser) variant details