G32V (p.Gly32Val) variant of RPE65 (Retinoid isomerohydrolase)
G32V (p.Gly32Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- rs61751278
- ClinGen CA226594
- ClinVar RCV000085234
- TOPMed rs61751278
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- MutPred 0.97
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Structural context available