R20T (p.Arg20Thr) variant of ETV1 (ETS translocation variant 1)
R20T (p.Arg20Thr) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R20T (p.Arg20Thr) variant details
- p.Arg20Thr
- ExAC rs770257114
- TOPMed rs770257114
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available