A15G (p.Ala15Gly) variant of NR2E3 (Q9Y5X4)
A15G (p.Ala15Gly) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- gnomAD 15-71810787-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 20.80
- PolyPhen-2 0.26
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available