D34E (p.Asp34Glu) variant of CEBPB (P17676)
D34E (p.Asp34Glu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- ExAC rs769517052
- TOPMed rs769517052
- gnomAD rs769517052
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.08
- CADD 24.90
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)