R39* (p.Arg39Ter) variant of ETV6 (Transcription factor ETV6)
R39* (p.Arg39Ter) 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 0.48 / 1. The record also includes population frequency data and structural context.
R39* (p.Arg39Ter) variant details
- p.Arg39Ter
- rs1036410712
- NCI-TCGA Cosmic COSV6715
- TOPMed rs1036410712
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available