A15S (p.Ala15Ser) variant of NR2E3 (Q9Y5X4)
A15S (p.Ala15Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 15-71810786-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 15.80
- PolyPhen-2 0.12
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available