T6K (p.Thr6Lys) variant of NR2E3 (Q9Y5X4)
T6K (p.Thr6Lys) 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.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- gnomAD 15-71810760-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 3.17
- PolyPhen-2 0.06
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available