I100K (p.Ile100Lys) variant of RPE65 (Retinoid isomerohydrolase)

I100K (p.Ile100Lys) 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.

I100K (p.Ile100Lys) variant details