A15E (p.Ala15Glu) variant of NR2E3 (Q9Y5X4)
A15E (p.Ala15Glu) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 15-71810787-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 20.60
- PolyPhen-2 0.45
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available