I136T (p.Ile136Thr) variant of UBE3A (Ubiquitin-protein ligase E3A)

I136T (p.Ile136Thr) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

I136T (p.Ile136Thr) variant details