K108E (p.Lys108Glu) variant of DDX41 (Q9UJV9)
K108E (p.Lys108Glu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
K108E (p.Lys108Glu) variant details
- p.Lys108Glu
- TOPMed rs1761222381
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.15
- CADD 25.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available