E51A (p.Glu51Ala) variant of RPE65 (Retinoid isomerohydrolase)
E51A (p.Glu51Ala) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E51A (p.Glu51Ala) variant details
- p.Glu51Ala
- Ensembl rs1645945889
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.92
- MetaLR 0.91
- MetaSVM 1.02
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available