R85L (p.Arg85Leu) variant of RPE65 (Retinoid isomerohydrolase)
R85L (p.Arg85Leu) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in RP20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R85L (p.Arg85Leu) variant details
- p.Arg85Leu
- ESP rs61752870
- ExAC rs61752870
- TOPMed rs61752870
- gnomAD rs61752870
- Uncertain significance
- in RP20
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.78
- MetaLR 0.81
- MetaSVM 0.83
- CADD 24.20
- PolyPhen-2 0.24
- SIFT 0.01
- EBI: Variant of uncertain significance (in RP20)
- UniProt: Uncertain significance (in RP20)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available