G67R (p.Gly67Arg) variant of DDX41 (Q9UJV9)
G67R (p.Gly67Arg) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G67R (p.Gly67Arg) variant details
- p.Gly67Arg
- rs970338234
- ClinGen CA362377324
- ClinVar RCV002883039
- ClinVar RCV003443153
- Conflicting interpretations
- not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.08
- AlphaMissense 0.22
- MetaLR 0.05
- MetaSVM -1.11
- CADD 21.90
- PolyPhen-2 0.94
- ClinVar: Conflicting classifications of pathogenicity (not provided; DDX41-related hematologic malignancy predispositio)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)