G114R (p.Gly114Arg) variant of ETV1 (ETS translocation variant 1)
G114R (p.Gly114Arg) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G114R (p.Gly114Arg) variant details
- p.Gly114Arg
- ExAC rs768475054
- gnomAD rs768475054
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.46
- CADD 26.70
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available