T31I (p.Thr31Ile) variant of RPE65 (Retinoid isomerohydrolase)
T31I (p.Thr31Ile) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- ExAC rs774306896
- gnomAD rs774306896
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.28
- MetaLR 0.68
- MetaSVM 0.14
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available