R29P (p.Arg29Pro) variant of ETV4 (ETS translocation variant 4)
R29P (p.Arg29Pro) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
R29P (p.Arg29Pro) variant details
- p.Arg29Pro
- TOPMed rs1294970891
- gnomAD rs1294970891
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)