T18A (p.Thr18Ala) variant of RPE65 (Retinoid isomerohydrolase)
T18A (p.Thr18Ala) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- ExAC rs765691555
- gnomAD rs765691555
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.57
- MetaLR 0.78
- MetaSVM 0.54
- CADD 23.60
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available