I14T (p.Ile14Thr) variant of TBK1 (Q9UHD2)
I14T (p.Ile14Thr) 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.
I14T (p.Ile14Thr) variant details
- p.Ile14Thr
- rs2136052738
- ClinGen CA385592947
- ClinVar RCV001941406
- Ensembl rs2136052738
- 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)