Q2R (p.Gln2Arg) variant of TBK1 (Q9UHD2)
Q2R (p.Gln2Arg) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The record also includes published literature and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- rs2539476580
- ClinGen CA385592740
- ClinVar RCV003752874
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)