Y36* (p.Tyr36Ter) variant of DDX41 (Q9UJV9)
Y36* (p.Tyr36Ter) in DDX41 (Q9UJV9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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.
Y36* (p.Tyr36Ter) variant details
- p.Tyr36Ter
- rs2532091583
- ClinGen CA362377782
- ClinVar RCV003466155
- ClinVar RCV006342979
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)