A92S (p.Ala92Ser) variant of RPE65 (Retinoid isomerohydrolase)
A92S (p.Ala92Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A92S (p.Ala92Ser) variant details
- p.Ala92Ser
- ExAC rs778323735
- gnomAD rs778323735
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.56
- MetaLR 0.69
- MetaSVM 0.20
- CADD 22.30
- PolyPhen-2 0.12
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available