I115M (p.Ile115Met) variant of RPE65 (Retinoid isomerohydrolase)
I115M (p.Ile115Met) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
I115M (p.Ile115Met) variant details
- p.Ile115Met
- TOPMed rs1645929640
- gnomAD rs1645929640
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.84
- MetaLR 0.89
- MetaSVM 0.87
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available