Y119* (p.Tyr119Ter) variant of ETV1 (ETS translocation variant 1)
Y119* (p.Tyr119Ter) in ETV1 (ETS translocation variant 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Y119* (p.Tyr119Ter) variant details
- p.Tyr119Ter
- cosmic curated COSV54148
- gnomAD rs1424792522
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 38.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available