A14V (p.Ala14Val) variant of NR2E3 (Q9Y5X4)
A14V (p.Ala14Val) 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.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 15-71810784-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 16.70
- PolyPhen-2 0.26
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available