G113R (p.Gly113Arg) variant of ETV5 (ETS translocation variant 5)
G113R (p.Gly113Arg) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
G113R (p.Gly113Arg) variant details
- p.Gly113Arg
- TOPMed rs1010586417
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.17
- CADD 24.00
- PolyPhen-2 0.22
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)