E28K (p.Glu28Lys) variant of DDX41 (Q9UJV9)
E28K (p.Glu28Lys) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs1433636328
- ClinGen CA362377884
- cosmic curated COSV10028
- ClinVar RCV002926659
- Uncertain significance
- not provided; DDX41-related hematologic malignancy predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.12
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; DDX41-related hematologic malignancy predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)