A19V (p.Ala19Val) variant of NR2E3 (Q9Y5X4)
A19V (p.Ala19Val) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 15-71810799-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 8.97
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available