P29S (p.Pro29Ser) variant of NR2E3 (Q9Y5X4)
P29S (p.Pro29Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- gnomAD 15-71810828-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available