A129V (p.Ala129Val) variant of ETV4 (ETS translocation variant 4)
A129V (p.Ala129Val) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
A129V (p.Ala129Val) variant details
- p.Ala129Val
- ExAC rs776144344
- TOPMed rs776144344
- gnomAD rs776144344
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.21
- CADD 25.60
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)