A22V (p.Ala22Val) variant of NR2E3 (Q9Y5X4)
A22V (p.Ala22Val) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 15-71810808-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 12.80
- PolyPhen-2 0.03
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available