C45* (p.Cys45Ter) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
C45* (p.Cys45Ter) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
C45* (p.Cys45Ter) variant details
- p.Cys45Ter
- ExAC rs767971099
- TOPMed rs767971099
- gnomAD rs767971099
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 35.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available