E2D (p.Glu2Asp) variant of ETV4 (ETS translocation variant 4)
E2D (p.Glu2Asp) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- ExAC rs769832778
- TOPMed rs769832778
- gnomAD rs769832778
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.90
- SIFT 0.99
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)