E56* (p.Glu56Ter) variant of DPYD (Q12882)
E56* (p.Glu56Ter) in DPYD (Q12882) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- TOPMed rs1446753064
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available