R134S (p.Arg134Ser) variant of ETV4 (ETS translocation variant 4)
R134S (p.Arg134Ser) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
R134S (p.Arg134Ser) variant details
- p.Arg134Ser
- Ensembl rs2154587114
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.19
- CADD 24.10
- PolyPhen-2 0.70
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 4.8e-05)