R118K (p.Arg118Lys) variant of RPE65 (Retinoid isomerohydrolase)
R118K (p.Arg118Lys) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R118K (p.Arg118Lys) variant details
- p.Arg118Lys
- gnomAD rs1381010953
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.83
- MetaLR 0.84
- MetaSVM 0.73
- CADD 34.00
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available