R30G (p.Arg30Gly) variant of ETV5 (ETS translocation variant 5)
R30G (p.Arg30Gly) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- gnomAD rs1714569980
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.39
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)