G492V (p.Gly492Val) variant of UBE3A (Ubiquitin-protein ligase E3A)

G492V (p.Gly492Val) 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 structural context.

G492V (p.Gly492Val) variant details