A44S (p.Ala44Ser) variant of CEBPE (Q15744)
A44S (p.Ala44Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- ESP rs200138272
- ExAC rs200138272
- TOPMed rs200138272
- gnomAD rs200138272
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.05
- MetaSVM -1.04
- CADD 21.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available