S48F (p.Ser48Phe) variant of CEBPE (Q15744)
S48F (p.Ser48Phe) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- ESP rs369075679
- ExAC rs369075679
- gnomAD rs369075679
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.15
- ESM-1b 0.56
- AlphaMissense 0.79
- MetaLR 0.09
- MetaSVM -0.96
- CADD 26.90
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available