T137M (p.Thr137Met) variant of DDX41 (Q9UJV9)
T137M (p.Thr137Met) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T137M (p.Thr137Met) variant details
- p.Thr137Met
- rs1407903590
- ClinGen CA362376478
- cosmic curated COSV57905
- ClinVar RCV003466137
- Uncertain significance
- Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.14
- CADD 24.20
- PolyPhen-2 0.45
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; DDX41-related hematologic malignancy pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)