C117F (p.Cys117Phe) variant of ETV1 (ETS translocation variant 1)
C117F (p.Cys117Phe) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C117F (p.Cys117Phe) variant details
- p.Cys117Phe
- ExAC rs1131845
- gnomAD rs1131845
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.52
- CADD 25.80
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available