G19E (p.Gly19Glu) variant of DDX41 (Q9UJV9)
G19E (p.Gly19Glu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- 1000Genomes rs545124279
- ExAC rs545124279
- gnomAD rs545124279
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.02
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available