P29T (p.Pro29Thr) variant of NR2E3 (Q9Y5X4)
P29T (p.Pro29Thr) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- gnomAD 15-71810828-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 17.10
- PolyPhen-2 0.23
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available