C45Y (p.Cys45Tyr) variant of RPE65 (Retinoid isomerohydrolase)

C45Y (p.Cys45Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

C45Y (p.Cys45Tyr) variant details