D75N (p.Asp75Asn) variant of DDX41 (Q9UJV9)
D75N (p.Asp75Asn) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DDX41-related hematologic malignancy predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- rs2532090112
- ClinVar RCV004575789
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.18
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)