T6I (p.Thr6Ile) variant of NR2E3 (Q9Y5X4)
T6I (p.Thr6Ile) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- gnomAD 15-71810760-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- CADD 0.74
- PolyPhen-2 0.10
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available