R22H (p.Arg22His) variant of DDX41 (Q9UJV9)
R22H (p.Arg22His) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R22H (p.Arg22His) variant details
- p.Arg22His
- rs1330322681
- ClinGen CA362377918
- ClinVar RCV002994735
- ClinVar RCV003465887
- Uncertain significance
- Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; DDX41-related hematologic malignancy pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9e-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)