A16D (p.Ala16Asp) variant of NR2E3 (Q9Y5X4)
A16D (p.Ala16Asp) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 15-71810790-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 16.80
- PolyPhen-2 0.11
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available