E59R (p.Glu59Arg) variant of CEBPA (P49715)
E59R (p.Glu59Arg) in CEBPA (P49715) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E59R (p.Glu59Arg) variant details
- p.Glu59Arg
- rs2513332781
- ClinGen CA645612835
- ClinVar RCV002282600
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)