K26E (p.Lys26Glu) variant of NR2E3 (Q9Y5X4)
K26E (p.Lys26Glu) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- gnomAD 15-71810819-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 19.20
- PolyPhen-2 0.05
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available