G19R (p.Gly19Arg) variant of ETV1 (ETS translocation variant 1)
G19R (p.Gly19Arg) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- 1000Genomes rs535092479
- ExAC rs535092479
- TOPMed rs535092479
- gnomAD rs535092479
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.29
- CADD 28.60
- PolyPhen-2 0.49
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available