R18Q (p.Arg18Gln) variant of ETV5 (ETS translocation variant 5)
R18Q (p.Arg18Gln) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- cosmic curated COSV60500
- 1000Genomes rs547190842
- ExAC rs547190842
- TOPMed rs547190842
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.05
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)