E5* (p.Glu5Ter) variant of DDX41 (Q9UJV9)
E5* (p.Glu5Ter) in DDX41 (Q9UJV9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- rs779029308
- ClinGen CA362378182
- ClinVar RCV003466161
- ExAC rs779029308
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.879
- CADD 49.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)