E2K (p.Glu2Lys) variant of CEBPA (P49715)
E2K (p.Glu2Lys) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- TOPMed rs1967205529
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -0.94
- CADD 28.70
- PolyPhen-2 0.51
- SIFT 0.00
- Population evidence available
- Structural context available