R3Q (p.Arg3Gln) variant of ETV4 (ETS translocation variant 4)
R3Q (p.Arg3Gln) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs1426178575
- ClinGen CA399721516
- ClinVar RCV004134331
- TOPMed rs1426178575
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.05
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -1.00
- CADD 24.50
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)