V52D (p.Val52Asp) variant of RPE65 (Retinoid isomerohydrolase)
V52D (p.Val52Asp) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
V52D (p.Val52Asp) variant details
- p.Val52Asp
- Ensembl rs892723493
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.96
- MetaLR 0.91
- MetaSVM 1.03
- CADD 28.40
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available