S58* (p.Ser58Ter) variant of CYP2C8 (Cytochrome P450 2C8)
S58* (p.Ser58Ter) in CYP2C8 (Cytochrome P450 2C8) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S58* (p.Ser58Ter) variant details
- p.Ser58Ter
- rs780544107
- NCI-TCGA Cosmic COSV6487
- ExAC rs780544107
- TOPMed rs780544107
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available