T6A (p.Thr6Ala) variant of NR2E3 (Q9Y5X4)
T6A (p.Thr6Ala) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD 15-71810759-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0685
- CADD 0.61
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available