S23F (p.Ser23Phe) variant of DDX41 (Q9UJV9)
S23F (p.Ser23Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- rs755765308
- ClinGen CA3585388
- ClinVar RCV003466152
- ClinVar RCV004763693
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.20
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)