A25V (p.Ala25Val) variant of CEBPE (Q15744)
A25V (p.Ala25Val) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- ExAC rs775604569
- TOPMed rs775604569
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.05
- CADD 17.90
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available