A44P (p.Ala44Pro) variant of CEBPA (P49715)
A44P (p.Ala44Pro) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A44P (p.Ala44Pro) variant details
- p.Ala44Pro
- gnomAD rs1442183367
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.06
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.08
- Population evidence available
- Structural context available