C45* (p.Cys45Ter) variant of PAX8 (Paired box protein Pax-8)
C45* (p.Cys45Ter) in PAX8 (Paired box protein Pax-8) 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 0.26 / 1. The record also includes population frequency data and structural context.
C45* (p.Cys45Ter) variant details
- p.Cys45Ter
- NCI-TCGA Cosmic COSV5450
- cosmic curated COSV54507
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available