Q41* (p.Gln41Ter) variant of DDX41 (Q9UJV9)
Q41* (p.Gln41Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- rs746278774
- ClinGen CA3585373
- ClinVar RCV000579037
- ClinVar RCV001764696
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.877
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)