Q63H (p.Gln63His) variant of DDX41 (Q9UJV9)
Q63H (p.Gln63His) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q63H (p.Gln63His) variant details
- p.Gln63His
- rs749201065
- ClinGen CA3585310
- ClinVar RCV003086706
- ClinVar RCV003092780
- Conflicting interpretations
- DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.03
- CADD 19.20
- PolyPhen-2 0.14
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (DDX41-related hematologic malignancy predisposition syndrome; In)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00072)
- 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)