E50* (p.Glu50Ter) variant of CEBPA (P49715)
E50* (p.Glu50Ter) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- rs121912791
- ClinGen CA280228
- ClinVar RCV000019127
- Ensembl rs121912791
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid… (PMID 11242107)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)