E5K (p.Glu5Lys) variant of DDX41 (Q9UJV9)
E5K (p.Glu5Lys) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- cosmic curated COSV10588
- ExAC rs779029308
- TOPMed rs779029308
- gnomAD rs779029308
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:KALASH population (allele frequency 0.095)
- Structural context available