E122* (p.Glu122Ter) variant of DDX41 (Q9UJV9)
E122* (p.Glu122Ter) 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.
E122* (p.Glu122Ter) variant details
- p.Glu122Ter
- rs200567842
- ClinGen CA132895108
- ClinVar RCV000822333
- ClinVar RCV002249532
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)