E2K (p.Glu2Lys) variant of NR2E3 (Q9Y5X4)
E2K (p.Glu2Lys) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 15-71810747-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0728
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.84
- Population evidence available
- Literature evidence available