S4L (p.Ser4Leu) variant of DDX41 (Q9UJV9)
S4L (p.Ser4Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- ExAC rs745639610
- TOPMed rs745639610
- gnomAD rs745639610
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 24.50
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available