P29L (p.Pro29Leu) variant of NR2E3 (Q9Y5X4)
P29L (p.Pro29Leu) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- gnomAD 15-71810829-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 22.90
- PolyPhen-2 0.37
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available