E19K (p.Glu19Lys) variant of CEBPE (Q15744)
E19K (p.Glu19Lys) in CEBPE (Q15744) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- ESP rs200738630
- ExAC rs200738630
- TOPMed rs200738630
- gnomAD rs200738630
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.04
- MetaSVM -1.04
- CADD 19.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available