T13I (p.Thr13Ile) variant of DDX41 (Q9UJV9)
T13I (p.Thr13Ile) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T13I (p.Thr13Ile) variant details
- p.Thr13Ile
- rs61736559
- ClinGen CA3585397
- ClinVar RCV001769396
- ClinVar RCV001821994
- Conflicting interpretations
- not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo
- Missense
- Variant Prioritization Score for Impact Estimate 0.0965
- REVEL 0.04
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not provided; DDX41-related hematologic malignancy predispositio)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- 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)