I88M (p.Ile88Met) variant of ETV1 (ETS translocation variant 1)
I88M (p.Ile88Met) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I88M (p.Ile88Met) variant details
- p.Ile88Met
- cosmic curated COSV54139
- Ensembl rs1787184914
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.26
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available