E36G (p.Glu36Gly) variant of NR2E3 (Q9Y5X4)
E36G (p.Glu36Gly) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E36G (p.Glu36Gly) variant details
- p.Glu36Gly
- gnomAD 15-71810850-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available