E59* (p.Glu59Ter) variant of CEBPA (P49715)
E59* (p.Glu59Ter) in CEBPA (P49715) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E59* (p.Glu59Ter) variant details
- p.Glu59Ter
- rs1210600080
- ClinGen CA405275521
- ClinVar RCV001269749
- ClinVar RCV001880198
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -0.86
- CADD 37.00
- PolyPhen-2 0.00
- SIFT 0.47
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.7e-05)
- 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)