A25T (p.Ala25Thr) variant of CEBPE (Q15744)
A25T (p.Ala25Thr) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- TOPMed rs1247133860
- gnomAD rs1247133860
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.07
- CADD 15.20
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available