W20* (p.Trp20Ter) variant of CYP2C8 (Cytochrome P450 2C8)
W20* (p.Trp20Ter) 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 0.70 / 1. The record also includes population frequency data and structural context.
W20* (p.Trp20Ter) variant details
- p.Trp20Ter
- rs1564743916
- NCI-TCGA Cosmic COSV1009
- Ensembl rs1564743916
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available