Q8R (p.Gln8Arg) variant of ETV1 (ETS translocation variant 1)
Q8R (p.Gln8Arg) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q8R (p.Gln8Arg) variant details
- p.Gln8Arg
- gnomAD rs1218883502
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.30
- CADD 28.00
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available