A7S (p.Ala7Ser) variant of NR2E3 (Q9Y5X4)
A7S (p.Ala7Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and published literature.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 15-71810762-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 6.33
- PolyPhen-2 0.09
- SIFT 0.33
- Population evidence available
- Literature evidence available