E55K (p.Glu55Lys) variant of TBK1 (Q9UHD2)
E55K (p.Glu55Lys) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- rs2136056674
- ClinGen CA385594516
- ClinVar RCV001755569
- ClinVar RCV006467918
- Uncertain significance
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.65
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)