E696K (p.Glu696Lys) variant of TBK1 (Q9UHD2)
E696K (p.Glu696Lys) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E696K (p.Glu696Lys) variant details
- p.Glu696Lys
- rs748112833
- ClinGen CA203889
- ClinVar RCV000185600
- UniProt VAR 073948
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.28
- CADD 25.70
- PolyPhen-2 0.26
- SIFT 0.01
- 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 3.6e-06)
- Structural context available
- Cited in: Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. (PMID 25803835)
- Cited in: Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without… (PMID 25943890)