A28T (p.Ala28Thr) variant of RPE65 (Retinoid isomerohydrolase)
A28T (p.Ala28Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- TOPMed rs1285702731
- gnomAD rs1285702731
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.36
- MetaLR 0.55
- MetaSVM -0.24
- CADD 17.30
- PolyPhen-2 0.05
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available