A16S (p.Ala16Ser) variant of NR2E3 (Q9Y5X4)
A16S (p.Ala16Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 15-71810789-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 4.83
- PolyPhen-2 0.03
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available