R357Q (p.Arg357Gln) variant of TBK1 (Q9UHD2)
R357Q (p.Arg357Gln) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R357Q (p.Arg357Gln) variant details
- p.Arg357Gln
- rs758357594
- ClinGen CA6668963
- ClinVar RCV002000195
- UniProt VAR 073942
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Pathogenic (in FTDALS4)
- UniProt: Pathogenic (in FTDALS4)
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. (PMID 25803835)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)