T135N (p.Thr135Asn) variant of ETV5 (ETS translocation variant 5)
T135N (p.Thr135Asn) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
T135N (p.Thr135Asn) variant details
- p.Thr135Asn
- ExAC rs766752832
- gnomAD rs766752832
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.91
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)