G4W (p.Gly4Trp) variant of CEBPE (Q15744)
G4W (p.Gly4Trp) 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.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- 1000Genomes rs545367685
- ExAC rs545367685
- TOPMed rs545367685
- gnomAD rs545367685
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.08
- ESM-1b 0.04
- AlphaMissense 0.60
- MetaLR 0.05
- MetaSVM -1.04
- CADD 24.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available