M5T (p.Met5Thr) variant of ETV4 (ETS translocation variant 4)
M5T (p.Met5Thr) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
M5T (p.Met5Thr) variant details
- p.Met5Thr
- TOPMed rs892479186
- gnomAD rs892479186
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the Middle Eastern population (allele frequency 0.0007)