A25S (p.Ala25Ser) variant of CEBPE (Q15744)
A25S (p.Ala25Ser) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- TOPMed rs1247133860
- gnomAD rs1247133860
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.04
- CADD 12.80
- Most common in the HGDP:SURUI population (allele frequency 0.21)
- Structural context available