W69* (p.Trp69Ter) variant of ETV6 (Transcription factor ETV6)
W69* (p.Trp69Ter) in ETV6 (Transcription factor ETV6) 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 0.87 / 1. The record also includes population frequency data and structural context.
W69* (p.Trp69Ter) variant details
- p.Trp69Ter
- TOPMed rs1251762165
- gnomAD rs1251762165
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available