E27D (p.Glu27Asp) variant of NR2E3 (Q9Y5X4)
E27D (p.Glu27Asp) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD 15-71810824-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available