E21D (p.Glu21Asp) variant of ETV5 (ETS translocation variant 5)
E21D (p.Glu21Asp) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- ExAC rs770669598
- TOPMed rs770669598
- gnomAD rs770669598
- Missense
- Variant Prioritization Score for Impact Estimate 0.0921
- REVEL 0.02
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)