E47K (p.Glu47Lys) variant of CEBPE (Q15744)
E47K (p.Glu47Lys) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- ExAC rs772148374
- gnomAD rs772148374
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.09
- MetaSVM -0.99
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available