Y119C (p.Tyr119Cys) variant of ETV1 (ETS translocation variant 1)
Y119C (p.Tyr119Cys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y119C (p.Tyr119Cys) variant details
- p.Tyr119Cys
- ESP rs368739038
- ExAC rs368739038
- TOPMed rs368739038
- gnomAD rs368739038
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.49
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available