R90Q (p.Arg90Gln) variant of ETV5 (ETS translocation variant 5)
R90Q (p.Arg90Gln) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- rs767971453
- 1000Genomes rs767971453
- ExAC rs767971453
- TOPMed rs767971453
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.21
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)