E3D (p.Glu3Asp) variant of DDX41 (Q9UJV9)
E3D (p.Glu3Asp) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- TOPMed rs994034775
- gnomAD rs994034775
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.70
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available