C117Y (p.Cys117Tyr) variant of ETV1 (ETS translocation variant 1)
C117Y (p.Cys117Tyr) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C117Y (p.Cys117Tyr) variant details
- p.Cys117Tyr
- cosmic curated COSV10878
- ExAC rs1131845
- gnomAD rs1131845
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.56
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available