Y33H (p.Tyr33His) variant of DDX41 (Q9UJV9)
Y33H (p.Tyr33His) 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; Inborn genetic diseases; DDX41-related hematologic malignancy pred. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y33H (p.Tyr33His) variant details
- p.Tyr33His
- rs150205465
- ClinGen CA3585380
- ClinVar RCV001822617
- ClinVar RCV002542667
- Conflicting interpretations
- not provided; Inborn genetic diseases; DDX41-related hematologic malignancy pred
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.14
- CADD 25.10
- PolyPhen-2 0.91
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; DDX41-related hematologic)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- 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)