T50P (p.Thr50Pro) variant of UBE3A (Ubiquitin-protein ligase E3A)

T50P (p.Thr50Pro) 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.

T50P (p.Thr50Pro) variant details