A19S (p.Ala19Ser) variant of NR2E3 (Q9Y5X4)
A19S (p.Ala19Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 15-71810798-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 7.71
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available