G19* (p.Gly19Ter) variant of DDX41 (Q9UJV9)
G19* (p.Gly19Ter) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G19* (p.Gly19Ter) variant details
- p.Gly19Ter
- rs780643002
- ClinGen CA362377939
- ClinVar RCV003466157
- ClinVar RCV005323448
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-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)