M1I (p.Met1Ile) variant of DDX41 (Q9UJV9)
M1I (p.Met1Ile) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs141601766
- ClinGen CA358661
- ClinVar RCV000210251
- ClinVar RCV000519179
- Pathogenic/Likely pathogenic
- DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- MetaLR 0.05
- MetaSVM -1.10
- PolyPhen-2 0.27
- SIFT 0.03
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (DDX41-related hematologic malignancy predisposition syndrome; In)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. (PMID 26712909)
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)