A107T (p.Ala107Thr) variant of RPE65 (Retinoid isomerohydrolase)
A107T (p.Ala107Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A107T (p.Ala107Thr) variant details
- p.Ala107Thr
- ExAC rs775867619
- gnomAD rs775867619
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.77
- MetaLR 0.77
- MetaSVM 0.66
- CADD 23.00
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available