E24D (p.Glu24Asp) variant of DDX41 (Q9UJV9)
E24D (p.Glu24Asp) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- rs2532091739
- ClinVar RCV004575787
- ClinVar RCV005323642
- Conflicting interpretations
- Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; DDX41-related hematologic malignancy pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)