G32S (p.Gly32Ser) variant of TBK1 (Q9UHD2)
G32S (p.Gly32Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs1943095779
- ClinGen CA385594252
- ClinVar RCV001809181
- Ensembl rs1943095779
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)