Y16* (p.Tyr16Ter) variant of ETV4 (ETS translocation variant 4)
Y16* (p.Tyr16Ter) in ETV4 (ETS translocation variant 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- 1000Genomes rs1042838822
- TOPMed rs1042838822
- gnomAD rs1042838822
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 38.00
- Most common in the East Asian population (allele frequency 2.5e-05)