S12* (p.Ser12Ter) variant of CYP2C9 (Cytochrome P450 2C9)
S12* (p.Ser12Ter) in CYP2C9 (Cytochrome P450 2C9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- Ensembl rs2031306386
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available