F120V (p.Phe120Val) variant of RPE65 (Retinoid isomerohydrolase)
F120V (p.Phe120Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
F120V (p.Phe120Val) variant details
- p.Phe120Val
- gnomAD rs1478850590
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.73
- MetaLR 0.72
- MetaSVM 0.34
- CADD 23.80
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available