I115V (p.Ile115Val) variant of RPE65 (Retinoid isomerohydrolase)
I115V (p.Ile115Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I115V (p.Ile115Val) variant details
- p.Ile115Val
- TOPMed rs1051380960
- gnomAD rs1051380960
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.52
- MetaLR 0.73
- MetaSVM 0.42
- CADD 22.30
- PolyPhen-2 0.21
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available