D30E (p.Asp30Glu) variant of DDX41 (Q9UJV9)
D30E (p.Asp30Glu) in DDX41 (Q9UJV9) is a missense change. 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.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- ESP rs377090308
- ExAC rs377090308
- TOPMed rs377090308
- gnomAD rs377090308
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.11
- CADD 21.70
- PolyPhen-2 0.97
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available