S56F (p.Ser56Phe) variant of UBE3A (Ubiquitin-protein ligase E3A)

S56F (p.Ser56Phe) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.

S56F (p.Ser56Phe) variant details