A47S (p.Ala47Ser) variant of CEBPA (P49715)
A47S (p.Ala47Ser) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- rs1182161658
- ClinGen CA405275595
- ClinVar RCV001060618
- gnomAD rs1182161658
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.06
- CADD 22.50
- PolyPhen-2 0.26
- SIFT 0.50
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)