W146* (p.Trp146Ter) variant of DDX41 (Q9UJV9)
W146* (p.Trp146Ter) in DDX41 (Q9UJV9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W146* (p.Trp146Ter) variant details
- p.Trp146Ter
- rs915284509
- ClinGen CA132893653
- ClinVar RCV003547017
- Ensembl rs915284509
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available