T17A (p.Thr17Ala) variant of ETV4 (ETS translocation variant 4)
T17A (p.Thr17Ala) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- TOPMed rs1228086062
- gnomAD rs1228086062
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)