H7Q (p.His7Gln) variant of RPE65 (Retinoid isomerohydrolase)

H7Q (p.His7Gln) 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.

H7Q (p.His7Gln) variant details