P5Q (p.Pro5Gln) variant of NR2E3 (Q9Y5X4)
P5Q (p.Pro5Gln) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- gnomAD 15-71810757-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 11.70
- PolyPhen-2 0.28
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available