S58R (p.Ser58Arg) variant of ETV4 (ETS translocation variant 4)
S58R (p.Ser58Arg) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
S58R (p.Ser58Arg) variant details
- p.Ser58Arg
- 1000Genomes rs202092741
- ExAC rs202092741
- gnomAD rs202092741
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.39
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)