C96R (p.Cys96Arg) variant of ETV1 (ETS translocation variant 1)
C96R (p.Cys96Arg) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C96R (p.Cys96Arg) variant details
- p.Cys96Arg
- 1000Genomes rs2128459518
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.29
- CADD 23.30
- PolyPhen-2 0.48
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available