I138V (p.Ile138Val) variant of ETV4 (ETS translocation variant 4)
I138V (p.Ile138Val) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
I138V (p.Ile138Val) variant details
- p.Ile138Val
- Ensembl rs1598201507
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.06
- CADD 20.10
- PolyPhen-2 0.25
- SIFT 0.36
- Most common in the East Asian population (allele frequency 0.00015)