R42S (p.Arg42Ser) variant of DDX41 (Q9UJV9)
R42S (p.Arg42Ser) in DDX41 (Q9UJV9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- cosmic curated COSV57905
- TOPMed rs1414400375
- gnomAD rs1414400375
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.29
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available