E2Q (p.Glu2Gln) variant of ETV4 (ETS translocation variant 4)
E2Q (p.Glu2Gln) 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.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- TOPMed rs1237593688
- gnomAD rs1237593688
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)