I100T (p.Ile100Thr) variant of RPE65 (Retinoid isomerohydrolase)
I100T (p.Ile100Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
I100T (p.Ile100Thr) variant details
- p.Ile100Thr
- TOPMed rs1645930534
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.83
- MetaLR 0.84
- MetaSVM 0.75
- CADD 25.50
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available