A129T (p.Ala129Thr) variant of ETV4 (ETS translocation variant 4)
A129T (p.Ala129Thr) in ETV4 (ETS translocation variant 4) 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.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- gnomAD rs1368693587
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.23
- CADD 34.00
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)