D30N (p.Asp30Asn) variant of DDX41 (Q9UJV9)
D30N (p.Asp30Asn) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- rs559527781
- ClinGen CA362377861
- ClinVar RCV003466134
- ClinVar RCV005554954
- Conflicting interpretations
- Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.06
- 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 1.8e-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)