R339L (p.Arg339Leu) variant of DDX41 (Q9UJV9)
R339L (p.Arg339Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of DDX41-related hematologic malignancy predisposition syndrome. The record also includes variant effect predictions, published literature, and structural context.
R339L (p.Arg339Leu) variant details
- p.Arg339Leu
- rs774698335
- ClinGen CA362374394
- ClinVar RCV000504169
- ExAC rs774698335
- Likely pathogenic
- DDX41-related hematologic malignancy predisposition syndrome
- Missense
- MetaLR 0.28
- MetaSVM -0.61
- PolyPhen-2 0.77
- SIFT 0.00
- MutPred 0.70
- ClinVar: Likely pathogenic (DDX41-related hematologic malignancy predisposition syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)