C51* (p.Cys51Ter) variant of CYP2C8 (Cytochrome P450 2C8)
C51* (p.Cys51Ter) in CYP2C8 (Cytochrome P450 2C8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C51* (p.Cys51Ter) variant details
- p.Cys51Ter
- ExAC rs756493843
- TOPMed rs756493843
- gnomAD rs756493843
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 29.10
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available