P48A (p.Pro48Ala) variant of TBK1 (Q9UHD2)
P48A (p.Pro48Ala) 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.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- rs2136056652
- ClinGen CA385594436
- ClinVar RCV001884902
- Ensembl rs2136056652
- 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)