Q208E (p.Gln208Glu) variant of DDX41 (Q9UJV9)
Q208E (p.Gln208Glu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of DDX41-related hematologic malignancy predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q208E (p.Gln208Glu) variant details
- p.Gln208Glu
- gnomAD rs1241092852
- Likely pathogenic
- DDX41-related hematologic malignancy predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.92
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (DDX41-related hematologic malignancy predisposition syndrome)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available