A44P (p.Ala44Pro) variant of CEBPE (Q15744)
A44P (p.Ala44Pro) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A44P (p.Ala44Pro) variant details
- p.Ala44Pro
- gnomAD 14-23118962-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.17
- ESM-1b 0.16
- AlphaMissense 0.74
- MetaLR 0.13
- MetaSVM -1.00
- CADD 25.50
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available
- Literature evidence available