Q69* (p.Gln69Ter) variant of ETV1 (ETS translocation variant 1)
Q69* (p.Gln69Ter) in ETV1 (ETS translocation variant 1) is a protein-truncating change. 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.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- TOPMed rs1193052352
- gnomAD rs1193052352
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 45.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available