A11V (p.Ala11Val) variant of DDX41 (Q9UJV9)
A11V (p.Ala11Val) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs144762739
- ClinGen CA3585399
- ClinVar RCV003126989
- ClinVar RCV004786874
- Conflicting interpretations
- not provided; DDX41-related hematologic malignancy predisposition syndrome; Inbo
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.04
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; DDX41-related hematologic malignancy predispositio)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)