Q12* (p.Gln12Ter) variant of ETV4 (ETS translocation variant 4)
Q12* (p.Gln12Ter) in ETV4 (ETS translocation variant 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- gnomAD rs1272387854
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 40.00
- Most common in the South Asian population (allele frequency 1.2e-05)