A44V (p.Ala44Val) variant of CEBPE (Q15744)
A44V (p.Ala44Val) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD rs1292024007
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.10
- MetaSVM -0.98
- CADD 24.70
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available