A19E (p.Ala19Glu) variant of NR2E3 (Q9Y5X4)
A19E (p.Ala19Glu) 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.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 15-71810799-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 8.36
- PolyPhen-2 0.04
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available