E7* (p.Glu7Ter) variant of DDX41 (Q9UJV9)
E7* (p.Glu7Ter) in DDX41 (Q9UJV9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- rs749405703
- ClinGen CA362378171
- ClinVar RCV001761403
- ExAC rs749405703
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 47.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)