I3T (p.Ile3Thr) variant of RPE65 (Retinoid isomerohydrolase)
I3T (p.Ile3Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I3T (p.Ile3Thr) variant details
- p.Ile3Thr
- 1000Genomes rs534901182
- ExAC rs534901182
- TOPMed rs534901182
- gnomAD rs534901182
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.37
- MetaLR 0.24
- MetaSVM -0.54
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available