S68R (p.Ser68Arg) variant of DDX41 (Q9UJV9)
S68R (p.Ser68Arg) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S68R (p.Ser68Arg) variant details
- p.Ser68Arg
- rs2532090206
- ClinGen CA362377305
- ClinVar RCV003466150
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)