Y112C (p.Tyr112Cys) variant of ETV5 (ETS translocation variant 5)
Y112C (p.Tyr112Cys) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
Y112C (p.Tyr112Cys) variant details
- p.Tyr112Cys
- 1000Genomes rs61760177
- ESP rs61760177
- ExAC rs61760177
- TOPMed rs61760177
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.48
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.06
- Most common in the HGDP:FRENCH population (allele frequency 0.019)