R18P (p.Arg18Pro) variant of ETV5 (ETS translocation variant 5)
R18P (p.Arg18Pro) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- 1000Genomes rs547190842
- ExAC rs547190842
- TOPMed rs547190842
- gnomAD rs547190842
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.19
- CADD 20.50
- PolyPhen-2 0.25
- SIFT 0.29
- Most common in the South Asian population (allele frequency 2.3e-05)