D52E (p.Asp52Glu) variant of ETV4 (ETS translocation variant 4)
D52E (p.Asp52Glu) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- 1000Genomes rs542080771
- gnomAD rs542080771
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.15
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)