T139N (p.Thr139Asn) variant of ETV5 (ETS translocation variant 5)
T139N (p.Thr139Asn) in ETV5 (ETS translocation variant 5) 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.
T139N (p.Thr139Asn) variant details
- p.Thr139Asn
- ExAC rs765682543
- TOPMed rs765682543
- gnomAD rs765682543
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.14
- CADD 24.70
- PolyPhen-2 0.78
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 3.9e-05)