D30A (p.Asp30Ala) variant of DDX41 (Q9UJV9)
D30A (p.Asp30Ala) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D30A (p.Asp30Ala) variant details
- p.Asp30Ala
- rs2532091672
- ClinVar RCV004575783
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.13
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)