T12I (p.Thr12Ile) variant of NR2E3 (Q9Y5X4)
T12I (p.Thr12Ile) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- Ensembl rs921294165
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 8.77
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available