Q4R (p.Gln4Arg) variant of RPE65 (Retinoid isomerohydrolase)
Q4R (p.Gln4Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q4R (p.Gln4Arg) variant details
- p.Gln4Arg
- Ensembl rs1557605458
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.27
- MetaLR 0.38
- MetaSVM -0.77
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available