S39F (p.Ser39Phe) variant of CEBPE (Q15744)
S39F (p.Ser39Phe) in CEBPE (Q15744) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S39F (p.Ser39Phe) variant details
- p.Ser39Phe
- rs751571581
- ExAC rs751571581
- gnomAD rs751571581
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.25
- MetaSVM -0.56
- CADD 29.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available