Q48* (p.Gln48Ter) variant of DDX41 (Q9UJV9)
Q48* (p.Gln48Ter) in DDX41 (Q9UJV9) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- rs377745714
- ClinGen CA3585315
- ClinVar RCV001256176
- ClinVar RCV001819963
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)