R32G (p.Arg32Gly) variant of ETV1 (ETS translocation variant 1)
R32G (p.Arg32Gly) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- ExAC rs750167942
- gnomAD rs750167942
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.37
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available