Y130C (p.Tyr130Cys) variant of ETV4 (ETS translocation variant 4)
Y130C (p.Tyr130Cys) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
Y130C (p.Tyr130Cys) variant details
- p.Tyr130Cys
- TOPMed rs1971061709
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)