F116L (p.Phe116Leu) variant of RPE65 (Retinoid isomerohydrolase)
F116L (p.Phe116Leu) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F116L (p.Phe116Leu) variant details
- p.Phe116Leu
- TOPMed rs1315670304
- gnomAD rs1315670304
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.92
- MetaLR 0.86
- MetaSVM 0.85
- CADD 27.90
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available