G67S (p.Gly67Ser) variant of DDX41 (Q9UJV9)
G67S (p.Gly67Ser) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data and structural context.
G67S (p.Gly67Ser) variant details
- p.Gly67Ser
- TOPMed rs970338234
- gnomAD rs970338234
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.04
- AlphaMissense 0.22
- MetaLR 0.05
- MetaSVM -1.11
- CADD 16.50
- PolyPhen-2 0.94
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available