P18T (p.Pro18Thr) variant of NR2E3 (Q9Y5X4)
P18T (p.Pro18Thr) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- gnomAD 15-71810795-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available