E51D (p.Glu51Asp) variant of CEBPE (Q15744)
E51D (p.Glu51Asp) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- ExAC rs746377593
- TOPMed rs746377593
- gnomAD rs746377593
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.02
- MetaSVM -0.94
- CADD 0.03
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available