K134E (p.Lys134Glu) variant of DDX41 (Q9UJV9)
K134E (p.Lys134Glu) 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; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K134E (p.Lys134Glu) variant details
- p.Lys134Glu
- rs2532088584
- ClinVar RCV004575780
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome; In)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)