D120Y (p.Asp120Tyr) variant of GABRB3 (P28472)

D120Y (p.Asp120Tyr) in GABRB3 (P28472) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in DEE43. The record also includes structural context.

D120Y (p.Asp120Tyr) variant details