G147E (p.Gly147Glu) variant of ETV4 (ETS translocation variant 4)
G147E (p.Gly147Glu) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
G147E (p.Gly147Glu) variant details
- p.Gly147Glu
- TOPMed rs1279328634
- gnomAD rs1279328634
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.48
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)