T12K (p.Thr12Lys) variant of NR2E3 (Q9Y5X4)
T12K (p.Thr12Lys) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T12K (p.Thr12Lys) variant details
- p.Thr12Lys
- gnomAD 15-71810778-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0784
- CADD 3.41
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available