F50Y (p.Phe50Tyr) variant of RPE65 (Retinoid isomerohydrolase)
F50Y (p.Phe50Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F50Y (p.Phe50Tyr) variant details
- p.Phe50Tyr
- TOPMed rs1186660643
- gnomAD rs1186660643
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.78
- MetaLR 0.88
- MetaSVM 0.83
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available