A44V (p.Ala44Val) variant of CEBPA (P49715)
A44V (p.Ala44Val) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- rs1967197829
- ClinGen CA405275610
- ClinVar RCV001911428
- TOPMed rs1967197829
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.02
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00011)
- 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)