R71Q (p.Arg71Gln) variant of DDX41 (Q9UJV9)
R71Q (p.Arg71Gln) 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; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R71Q (p.Arg71Gln) variant details
- p.Arg71Gln
- rs1007652200
- ClinGen CA132895437
- ClinVar RCV004375826
- ClinVar RCV004573459
- Conflicting interpretations
- DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.31
- MutPred 0.13
- ClinVar: Conflicting classifications of pathogenicity (DDX41-related hematologic malignancy predisposition syndrome; In)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)