A107V (p.Ala107Val) variant of RPE65 (Retinoid isomerohydrolase)
A107V (p.Ala107Val) 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.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- 1000Genomes rs202186372
- ExAC rs202186372
- gnomAD rs202186372
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.88
- MetaLR 0.86
- MetaSVM 0.89
- CADD 28.10
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available