Q90* (p.Gln90Ter) variant of DDX41 (Q9UJV9)
Q90* (p.Gln90Ter) 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.
Q90* (p.Gln90Ter) variant details
- p.Gln90Ter
- rs199675507
- ClinGen CA3585293
- ClinVar RCV002052330
- ClinVar RCV002551236
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- 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)