H120Q (p.His120Gln) variant of ETV4 (ETS translocation variant 4)
H120Q (p.His120Gln) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
H120Q (p.His120Gln) variant details
- p.His120Gln
- ExAC rs775172939
- TOPMed rs775172939
- gnomAD rs775172939
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.69
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)