E2D (p.Glu2Asp) variant of DDX41 (Q9UJV9)
E2D (p.Glu2Asp) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of DDX41-related hematologic malignancy predisposition syndrome; not provided; Inbo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- rs138435584
- ClinGen CA3585442
- ClinVar RCV001682625
- ClinVar RCV001821952
- Conflicting interpretations
- DDX41-related hematologic malignancy predisposition syndrome; not provided; Inbo
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (DDX41-related hematologic malignancy predisposition syndrome; no)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.0011)
- 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)