R18C (p.Arg18Cys) variant of ETV1 (ETS translocation variant 1)
R18C (p.Arg18Cys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- 1000Genomes rs555395802
- ExAC rs555395802
- gnomAD rs555395802
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.17
- CADD 33.00
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available