V30A (p.Val30Ala) variant of RPE65 (Retinoid isomerohydrolase)
V30A (p.Val30Ala) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- gnomAD rs1373308880
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.77
- MetaLR 0.91
- MetaSVM 1.02
- CADD 24.30
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available