A44S (p.Ala44Ser) variant of CEBPA (P49715)
A44S (p.Ala44Ser) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- gnomAD rs1442183367
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.06
- CADD 19.10
- PolyPhen-2 0.40
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available