A7D (p.Ala7Asp) variant of NR2E3 (Q9Y5X4)
A7D (p.Ala7Asp) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 15-71810763-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 10.90
- PolyPhen-2 0.31
- SIFT 0.03
- Population evidence available
- Literature evidence available