V19L (p.Val19Leu) variant of RPE65 (Retinoid isomerohydrolase)
V19L (p.Val19Leu) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- gnomAD rs1645959896
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.42
- MetaLR 0.81
- MetaSVM 0.35
- CADD 24.40
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available