D30Y (p.Asp30Tyr) variant of DDX41 (Q9UJV9)
D30Y (p.Asp30Tyr) 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 specified; Inb. 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.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- rs559527781
- ClinGen CA3585383
- ClinVar RCV001819622
- ClinVar RCV002463044
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome; not specified; Inb
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.24
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)