D139G (p.Asp139Gly) variant of DDX41 (Q9UJV9)
D139G (p.Asp139Gly) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D139G (p.Asp139Gly) variant details
- p.Asp139Gly
- ExAC rs770263914
- TOPMed rs770263914
- gnomAD rs770263914
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- UniProt: Conflicting interpretations
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available