A23V (p.Ala23Val) variant of NR2E3 (Q9Y5X4)
A23V (p.Ala23Val) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD rs1462813894
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 9.64
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available