I507L (p.Ile507Leu) variant of UBE3A (Ubiquitin-protein ligase E3A)

I507L (p.Ile507Leu) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

I507L (p.Ile507Leu) variant details