V30G (p.Val30Gly) variant of RPE65 (Retinoid isomerohydrolase)
V30G (p.Val30Gly) 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.
V30G (p.Val30Gly) variant details
- p.Val30Gly
- gnomAD rs1373308880
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.09
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available