M5I (p.Met5Ile) variant of ETV4 (ETS translocation variant 4)
M5I (p.Met5Ile) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- cosmic curated COSV10740
- TOPMed rs1171015197
- gnomAD rs1171015197
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.08
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)