C56* (p.Cys56Ter) variant of CEBPA (P49715)
C56* (p.Cys56Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C56* (p.Cys56Ter) variant details
- p.Cys56Ter
- rs1967195832
- ClinGen CA405275539
- ClinVar RCV001054756
- Ensembl rs1967195832
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)