I138M (p.Ile138Met) variant of ETV4 (ETS translocation variant 4)
I138M (p.Ile138Met) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
I138M (p.Ile138Met) variant details
- p.Ile138Met
- gnomAD rs1476756552
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 0.85
- SIFT 0.74
- Most common in the African/African-American population (allele frequency 0.00041)