E19D (p.Glu19Asp) variant of CEBPE (Q15744)
E19D (p.Glu19Asp) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- TOPMed rs2048525027
- gnomAD rs2048525027
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.04
- CADD 17.70
- Most common in the 1KG:YRI population (allele frequency 0.013)
- Structural context available