G147A (p.Gly147Ala) variant of ETV4 (ETS translocation variant 4)
G147A (p.Gly147Ala) 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.
G147A (p.Gly147Ala) variant details
- p.Gly147Ala
- TOPMed rs1279328634
- gnomAD rs1279328634
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.10
- CADD 18.90
- PolyPhen-2 0.24
- SIFT 0.81
- Most common in the 1KG:CLM population (allele frequency 0.0053)