C96F (p.Cys96Phe) variant of ETV1 (ETS translocation variant 1)
C96F (p.Cys96Phe) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C96F (p.Cys96Phe) variant details
- p.Cys96Phe
- ExAC rs769910514
- TOPMed rs769910514
- gnomAD rs769910514
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.63
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available