E32K (p.Glu32Lys) variant of CEBPB (P17676)
E32K (p.Glu32Lys) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- TOPMed rs1301797980
- gnomAD rs1301797980
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.17
- CADD 27.00
- PolyPhen-2 0.68
- SIFT 0.01
- Population evidence available