R134K (p.Arg134Lys) variant of ETV4 (ETS translocation variant 4)
R134K (p.Arg134Lys) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R134K (p.Arg134Lys) variant details
- p.Arg134Lys
- TOPMed rs1567710070
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.08
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.76
- Most common in the REMAINING population (allele frequency 0.00048)