T56A (p.Thr56Ala) variant of ETV1 (ETS translocation variant 1)
T56A (p.Thr56Ala) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- TOPMed rs1782578744
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.18
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.53
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available