C45R (p.Cys45Arg) variant of RPE65 (Retinoid isomerohydrolase)
C45R (p.Cys45Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C45R (p.Cys45Arg) variant details
- p.Cys45Arg
- rs1645946067
- ClinVar RCV004586290
- TOPMed rs1645946067
- gnomAD rs1645946067
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.61
- MetaLR 0.82
- MetaSVM 0.81
- CADD 26.10
- PolyPhen-2 0.52
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available