E106* (p.Glu106Ter) variant of ETV1 (ETS translocation variant 1)
E106* (p.Glu106Ter) in ETV1 (ETS translocation variant 1) 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 0.88 / 1. The record also includes population frequency data and structural context.
E106* (p.Glu106Ter) variant details
- p.Glu106Ter
- NCI-TCGA Cosmic COSV5413
- NCI-TCGA Cosmic COSV5414
- cosmic curated COSV54149
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 42.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available