S4* (p.Ser4Ter) variant of DDX41 (Q9UJV9)
S4* (p.Ser4Ter) in DDX41 (Q9UJV9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- ExAC rs745639610
- TOPMed rs745639610
- gnomAD rs745639610
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 48.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available