E2Q (p.Glu2Gln) variant of DDX41 (Q9UJV9)
E2Q (p.Glu2Gln) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DDX41-related hematologic malignancy predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs950718925
- ClinVar RCV004575792
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.10
- PolyPhen-2 0.01
- SIFT 0.08
- MutPred 0.28
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)