P8A (p.Pro8Ala) variant of RPE65 (Retinoid isomerohydrolase)
P8A (p.Pro8Ala) 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.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- gnomAD rs938458992
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.68
- MetaLR 0.87
- MetaSVM 0.85
- CADD 24.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available