T139I (p.Thr139Ile) variant of ETV5 (ETS translocation variant 5)
T139I (p.Thr139Ile) in ETV5 (ETS translocation variant 5) 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.
T139I (p.Thr139Ile) variant details
- p.Thr139Ile
- ExAC rs765682543
- TOPMed rs765682543
- gnomAD rs765682543
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.22
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)