R124* (p.Arg124Ter) variant of DDX41 (Q9UJV9)
R124* (p.Arg124Ter) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R124* (p.Arg124Ter) variant details
- p.Arg124Ter
- rs1297703150
- ClinGen CA362376658
- cosmic curated COSV57903
- ClinVar RCV001256172
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)