TBK1 (Q9UHD2) variants and mutations
TBK1 (also known as Q9UHD2) is a human protein-coding gene encoding a serine/threonine-protein kinase protein. It activates IRF3 and related antiviral pathways after innate immune sensing and also participates in autophagy and cellular homeostasis. Loss-of-function variants can cause amyotrophic lateral sclerosis or frontotemporal dementia, while increased pathway activity can support inflammatory disease and some cancers. This analysis covers 901 TBK1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Herpetic encephalitis, and amyotrophic lateral sclerosis. Example TBK1 variants include M1T, Q2*, and Q2H.
Variant analysis overview
- Gene: TBK1
- Protein: Q9UHD2
- UniProt accession: Q9UHD2
- Organism: Homo sapiens
- Variants analyzed: 901
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 701 unspecified-consequence records; 111 missense variants; 58 synonymous variants; 6 frameshift variants; 5 splice-region variants; 3 in-frame deletions; 5 stop-gained variants; 1 in-frame insertions; 11 substitution
- Prediction scores: 686 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Herpetic encephalitis, amyotrophic lateral sclerosis, frontotemporal dementia with motor neuron disease, autoinflammation with arthritis and vasculitis, COVID-19, frontotemporal dementia, severe acute respiratory syndrome, motor neuron disorder, autoimmune disorder of central nervous system, corticobasal syndrome, progressive non-fluent aphasia.
Protein structure and variant hotspots
- Protein features: 2 domains; 2 binding sites; 3 post-translational modification sites.
- Structural context: 533 variants have structural context.
- PTM context: 2 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable TBK1 variants
Examples include M1T, Q2*, Q2H, Q2R, S3N, S3S, T4S, S5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs2539476572, ClinGen CA385592725, ClinVar RCV003752796, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Q2* (p.Gln2Ter), rs1555201919, ClinGen CA385592734, ClinVar RCV003058387, Ensembl rs1555201919, Pathogenic
- Q2H (p.Gln2His), gnomAD rs1325668050
- Q2R (p.Gln2Arg), rs2539476580, ClinGen CA385592740, ClinVar RCV003752874, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- S3N (p.Ser3Asn), gnomAD 12-64455878-G-A, REVEL 0.17, CADD 26.00
- S3S (p.Ser3Ser), rs115692983, gnomAD 12-64455879-C-T, CADD 11.70
- T4S (p.Thr4Ser), TOPMed rs1374271733
- S5C (p.Ser5Cys), ExAC rs764400429, gnomAD rs764400429, REVEL 0.07, CADD 23.40, Likely benign, not provided
- S5T (p.Ser5Thr), ExAC rs756545042, gnomAD rs756545042, REVEL 0.02, CADD 13.50
- S5Y (p.Ser5Tyr), rs764400429, ClinGen CA385592787, ClinVar RCV003388754, REVEL 0.09, CADD 24.20, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- N6N (p.Asn6Asn), rs902628899, gnomAD 12-64455888-T-C, CADD 11.10
- H7Y (p.His7Tyr), NCI-TCGA Cosmic COSV5915, REVEL 0.06, CADD 19.30, Variant assessed as somatic; moderate impact.
- W9* (p.Trp9Ter), NCI-TCGA Cosmic COSV5915, Variant assessed as somatic; high impact.
- W9R (p.Trp9Arg), TOPMed rs2040482190
- L10P (p.Leu10Pro), gnomAD 12-64455899-T-C, REVEL 0.16, CADD 24.30
- L11L (p.Leu11Leu), gnomAD 12-64455901-T-C, CADD 10.00
- L11V (p.Leu11Val), gnomAD 12-64455901-T-G, REVEL 0.04, CADD 14.20
- S12A (p.Ser12Ala), 1000Genomes rs199822589, ExAC rs199822589, TOPMed rs199822589, gnomAD rs199822589, REVEL 0.15, CADD 32.00, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- S12C (p.Ser12Cys), ExAC rs779634532, gnomAD rs779634532, REVEL 0.18, CADD 25.60
- S12S (p.Ser12Ser), gnomAD 12-64455906-T-C, CADD 13.30
- D13G (p.Asp13Gly), ESP rs371540185, ExAC rs371540185, TOPMed rs371540185, gnomAD rs371540185, REVEL 0.58, CADD 32.00
- D13N (p.Asp13Asn), NCI-TCGA Cosmic COSV1002, REVEL 0.29, CADD 31.00, Variant assessed as somatic; moderate impact.
- D13V (p.Asp13Val), NCI-TCGA Cosmic COSV1002, Variant assessed as somatic; moderate impact.
- D13D (p.Asp13Asp), rs754952918, gnomAD 12-64455909-T-C, CADD 9.42
- I14T (p.Ile14Thr), rs2136052738, ClinGen CA385592947, ClinVar RCV001941406, Ensembl rs2136052738, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- I14V (p.Ile14Val), rs781325780, ClinGen CA6668702, ClinVar RCV000546706, ClinVar RCV005239216, REVEL 0.11, CADD 15.60, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; not specified
- I14S (p.Ile14Ser), gnomAD 12-64455911-T-G, REVEL 0.27, CADD 33.00
- L15L (p.Leu15Leu), gnomAD 12-64455913-T-C, CADD 12.60
- Q17L (p.Gln17Leu), ExAC rs747864223, gnomAD rs747864223, REVEL 0.52, CADD 29.40
- Q17R (p.Gln17Arg), ExAC rs747864223, gnomAD rs747864223, REVEL 0.31, CADD 25.90
- Q17Q (p.Gln17Gln), rs769584803, gnomAD 12-64455921-A-G, CADD 11.90
- G18G (p.Gly18Gly), gnomAD 12-64455924-A-C, CADD 13.10
- T20S (p.Thr20Ser), gnomAD 12-64455929-C-G, REVEL 0.37, CADD 29.80
- T20T (p.Thr20Thr), gnomAD 12-64455930-T-C, CADD 11.70
- A21A (p.Ala21Ala), rs1198176007, gnomAD 12-64455933-A-C, CADD 13.80
- N22D (p.Asn22Asp), rs576726084, ClinGen CA238248254, ClinVar RCV001965440, TOPMed rs576726084, REVEL 0.31, CADD 26.50, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- N22H (p.Asn22His), TOPMed rs576726084, gnomAD rs576726084, REVEL 0.34, CADD 26.00, Uncertain significance, not provided
- N22Y (p.Asn22Tyr), gnomAD 12-64455934-A-T, REVEL 0.46, CADD 27.60
- N22N (p.Asn22Asn), rs41292019, gnomAD 12-64455936-T-C, CADD 12.20
- V23I (p.Val23Ile), rs1157085287, ClinGen CA385593083, ClinVar RCV003904041, TOPMed rs1157085287, REVEL 0.40, CADD 26.90, Uncertain significance, TBK1-related disorder
- F24S (p.Phe24Ser), UniProt VAR 084111, Uncertain significance
- R25C (p.Arg25Cys), rs749461125, ClinGen CA6668706, NCI-TCGA Cosmic COSV5915, ClinVar RCV003977003, REVEL 0.34, CADD 32.00, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- R25H (p.Arg25His), Ensembl rs1555201928, REVEL 0.26, CADD 31.00, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- R25S (p.Arg25Ser), rs1279619378, gnomAD 12-64455939-C-CT, CADD 33.00
- G26E (p.Gly26Glu), Ensembl rs918462348, REVEL 0.55, CADD 32.00
- G26R (p.Gly26Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R27G (p.Arg27Gly), rs2539476741, ClinGen CA385593148, ClinVar RCV002820866, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- R27I (p.Arg27Ile), gnomAD rs1425135718, REVEL 0.41, CADD 33.00
- R27S (p.Arg27Ser), NCI-TCGA Cosmic COSV5915, TOPMed rs2040482963, gnomAD rs2040482963, Variant assessed as somatic; moderate impact.
- H28F (p.His28Phe), rs2136052800, ClinGen CA2573148934, ClinVar RCV001973136, Ensembl rs2136052800, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- H28R (p.His28Arg), TOPMed rs1347293163, REVEL 0.30, CADD 23.70
- K29R (p.Lys29Arg), gnomAD 12-64455956-A-G, REVEL 0.37, CADD 33.00
- K30R (p.Lys30Arg), gnomAD 12-64460190-A-G, REVEL 0.27, CADD 26.70
- K30K (p.Lys30Lys), gnomAD 12-64460191-A-G, CADD 21.50
- T31A (p.Thr31Ala), gnomAD 12-64460192-A-G, REVEL 0.30, CADD 27.10
- T31N (p.Thr31Asn), gnomAD 12-64460193-C-A, REVEL 0.19, CADD 24.90
- T31T (p.Thr31Thr), rs923365540, gnomAD 12-64460194-T-C, CADD 10.90
- G32S (p.Gly32Ser), rs1943095779, ClinGen CA385594252, ClinVar RCV001809181, Ensembl rs1943095779, REVEL 0.60, CADD 31.00, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- G32V (p.Gly32Val), gnomAD 12-64460194-TG-T, CADD 32.00
- G32C (p.Gly32Cys), gnomAD 12-64460195-G-T, REVEL 0.59, CADD 32.00
- G32D (p.Gly32Asp), gnomAD 12-64460196-G-A, REVEL 0.60, CADD 27.50
- G32G (p.Gly32Gly), gnomAD 12-64460197-T-G, CADD 12.90
- D33Y (p.Asp33Tyr), gnomAD 12-64460198-G-T, REVEL 0.60, CADD 32.00
- D33G (p.Asp33Gly), gnomAD 12-64460199-A-G, REVEL 0.66, CADD 29.10
- D33V (p.Asp33Val), gnomAD 12-64460199-A-T, REVEL 0.67, CADD 29.80
- D33D (p.Asp33Asp), rs751092681, gnomAD 12-64460200-T-C, CADD 10.30
- L34* (p.Leu34Ter), rs2539482429, ClinGen CA385594279, ClinVar RCV003753864, Pathogenic
- L34V (p.Leu34Val), rs1298720550, TOPMed rs1298720550, gnomAD rs1298720550, REVEL 0.27, CADD 22.90, Uncertain significance, TBK1-related disorder
- L34L (p.Leu34Leu), gnomAD 12-64460201-T-C, CADD 10.70
- F35L (p.Phe35Leu), gnomAD 12-64460204-T-C, REVEL 0.21, CADD 24.10
- F35Y (p.Phe35Tyr), gnomAD 12-64460205-T-A, REVEL 0.18, CADD 20.50
- F35S (p.Phe35Ser), gnomAD 12-64460205-T-C, REVEL 0.35, CADD 23.50
- F35F (p.Phe35Phe), rs1257148212, gnomAD 12-64460206-T-C, CADD 12.80
- A36T (p.Ala36Thr), gnomAD 12-64460207-G-A, REVEL 0.69, CADD 29.60
- A36S (p.Ala36Ser), gnomAD 12-64460207-G-T, REVEL 0.53, CADD 28.10
- A36D (p.Ala36Asp), gnomAD 12-64460208-C-A, REVEL 0.71, CADD 26.60
- A36A (p.Ala36Ala), rs202056661, gnomAD 12-64460209-T-C, CADD 13.30
- I37F (p.Ile37Phe), rs780879936, ClinGen CA385594308, ClinVar RCV002869448, Uncertain significance, Inborn genetic diseases
- I37S (p.Ile37Ser), rs2136056628, ClinGen CA385594310, ClinVar RCV002042511, Ensembl rs2136056628, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- I37V (p.Ile37Val), rs780879936, ClinGen CA6668721, ClinVar RCV001755487, ExAC rs780879936, REVEL 0.08, CADD 15.70, Uncertain significance, not provided
- I37N (p.Ile37Asn), gnomAD 12-64460211-T-A, REVEL 0.35, CADD 24.80
- I37I (p.Ile37Ile), gnomAD 12-64460212-C-A, CADD 11.30
- K38E (p.Lys38Glu), gnomAD 12-64460213-A-G, REVEL 0.74, CADD 27.30
- K38R (p.Lys38Arg), gnomAD 12-64460214-A-G, REVEL 0.73, CADD 26.70
- K38K (p.Lys38Lys), gnomAD 12-64460215-A-G, CADD 12.10
- V39A (p.Val39Ala), gnomAD 12-64460217-T-C, REVEL 0.30, CADD 26.40
- V39V (p.Val39Val), rs1330096136, gnomAD 12-64460218-A-G, CADD 7.73
- F40L (p.Phe40Leu), gnomAD 12-64460219-T-C, REVEL 0.56, CADD 28.10
- F40Y (p.Phe40Tyr), gnomAD 12-64460220-T-A, REVEL 0.44, CADD 27.10
- F40F (p.Phe40Phe), gnomAD 12-64460221-T-C, CADD 13.30
- N41H (p.Asn41His), Ensembl rs2040531480
- N41D (p.Asn41Asp), gnomAD 12-64460222-A-G, REVEL 0.52, CADD 26.60
- N41S (p.Asn41Ser), gnomAD 12-64460223-A-G, REVEL 0.52, CADD 25.60
- N42H (p.Asn42His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N42S (p.Asn42Ser), rs748061846, ClinGen CA6668722, NCI-TCGA Cosmic COSV5915, ClinVar RCV001948003, REVEL 0.12, CADD 18.80, Conflicting interpretations, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; not provided
- N42D (p.Asn42Asp), gnomAD 12-64460225-A-G, REVEL 0.12, CADD 22.30
- N42K (p.Asn42Lys), gnomAD 12-64460227-C-A, REVEL 0.06, CADD 14.10
- I43L (p.Ile43Leu), Ensembl rs1171910535
- I43R (p.Ile43Arg), rs756011825, ClinGen CA6668723, ClinVar RCV002607944, ClinVar RCV004775306, REVEL 0.23, CADD 25.40, Uncertain significance, not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- S44R (p.Ser44Arg), gnomAD 12-64460233-C-A, REVEL 0.37, CADD 23.60
- S44S (p.Ser44Ser), rs777620452, gnomAD 12-64460233-C-T, CADD 13.60
- F45L (p.Phe45Leu), 1000Genomes rs11538420, ESP rs11538420, ExAC rs11538420, TOPMed rs11538420, REVEL 0.38, CADD 28.00, Benign
- F45F (p.Phe45Phe), rs11538420, gnomAD 12-64460236-C-T, CADD 14.60
- L46I (p.Leu46Ile), gnomAD 12-64460237-C-A, REVEL 0.20, CADD 24.20
- L46F (p.Leu46Phe), gnomAD 12-64460237-C-T, REVEL 0.23, CADD 27.70
- R47C (p.Arg47Cys), NCI-TCGA Cosmic COSV5915, REVEL 0.35, CADD 31.00, Variant assessed as somatic; moderate impact., in FTDALS4
- R47H (p.Arg47His), Ensembl rs1555202365, UniProt VAR 073938, REVEL 0.74, CADD 30.00, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- R47S (p.Arg47Ser), gnomAD 12-64460240-C-A, REVEL 0.23, CADD 26.80
- P48A (p.Pro48Ala), rs2136056652, ClinGen CA385594436, ClinVar RCV001884902, Ensembl rs2136056652, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- P48L (p.Pro48Leu), NCI-TCGA Cosmic COSV5915, Variant assessed as somatic; moderate impact.
- P48T (p.Pro48Thr), gnomAD 12-64460243-C-A, REVEL 0.43, CADD 25.90
- V49G (p.Val49Gly), rs2040531971, ClinGen CA385594453, ClinVar RCV001310999, Ensembl rs2040531971, Uncertain significance, not provided
- V49A (p.Val49Ala), gnomAD 12-64460247-T-C, REVEL 0.08, CADD 20.60
- D50A (p.Asp50Ala), rs1010930015, ClinGen CA238250177, ClinVar RCV000586295, ClinVar RCV003588649, REVEL 0.50, CADD 29.50, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; not specified
- D50E (p.Asp50Glu), TOPMed rs1305181933, gnomAD rs1305181933, REVEL 0.28, CADD 22.30
- D50N (p.Asp50Asn), ExAC rs771124028, TOPMed rs771124028, gnomAD rs771124028, REVEL 0.26, CADD 29.20
- D50V (p.Asp50Val), gnomAD 12-64460250-A-T, REVEL 0.57, CADD 29.00
- D50G (p.Asp50Gly), gnomAD 12-64460250-A-G, REVEL 0.53, CADD 29.80
- D50D (p.Asp50Asp), gnomAD 12-64460251-T-C, CADD 12.20
- V51I (p.Val51Ile), gnomAD 12-64460252-G-A, REVEL 0.28, CADD 25.90
- Q52K (p.Gln52Lys), gnomAD 12-64460255-C-A, REVEL 0.30, CADD 25.10
- Q52Q (p.Gln52Gln), rs774600423, gnomAD 12-64460257-A-G, CADD 9.73
- E55K (p.Glu55Lys), rs2136056674, ClinGen CA385594516, ClinVar RCV001755569, ClinVar RCV006467918, REVEL 0.65, CADD 29.00, Uncertain significance, not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- E55G (p.Glu55Gly), gnomAD 12-64460265-A-G, REVEL 0.83, CADD 28.80
- F56C (p.Phe56Cys), NCI-TCGA Cosmic COSV5915, Variant assessed as somatic; moderate impact.
- F56S (p.Phe56Ser), gnomAD 12-64460268-T-C, REVEL 0.81, CADD 29.40
- F56F (p.Phe56Phe), rs1194086121, gnomAD 12-64460269-T-C, CADD 13.40
- E57K (p.Glu57Lys), gnomAD 12-64460270-G-A, REVEL 0.51, CADD 29.80
- E57G (p.Glu57Gly), gnomAD 12-64460271-A-G, REVEL 0.66, CADD 28.30
- E57E (p.Glu57Glu), gnomAD 12-64460272-A-G, CADD 12.20
- V58M (p.Val58Met), rs1042991833, ClinGen CA238250180, ClinVar RCV001872397, gnomAD rs1042991833, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- V58V (p.Val58Val), gnomAD 12-64460275-G-T, CADD 7.34
- L59F (p.Leu59Phe), NCI-TCGA Cosmic COSV1005, NCI-TCGA Cosmic COSV5915, REVEL 0.55, CADD 23.50, Variant assessed as somatic; moderate impact.
- L59W (p.Leu59Trp), gnomAD rs2040532362, REVEL 0.80, CADD 27.30, Uncertain significance, not provided
- L59L (p.Leu59Leu), rs545011546, gnomAD 12-64460276-T-C, CADD 10.60
- L59S (p.Leu59Ser), gnomAD 12-64460277-T-C, REVEL 0.84, CADD 27.40
- K60E (p.Lys60Glu), TOPMed rs978933862, REVEL 0.34, CADD 24.20
- K60K (p.Lys60Lys), rs1592353604, gnomAD 12-64460281-A-G, CADD 11.40
- L62F (p.Leu62Phe), ExAC rs772093165, gnomAD rs772093165
- L62P (p.Leu62Pro), gnomAD 12-64460286-T-C, REVEL 0.80, CADD 28.50
- L62L (p.Leu62Leu), rs1383121705, gnomAD 12-64460287-C-A, CADD 6.80
- N63H (p.Asn63His), ExAC rs775442238, TOPMed rs775442238, gnomAD rs775442238, REVEL 0.35, CADD 25.70
- N63S (p.Asn63Ser), rs565166649, 1000Genomes rs565166649, TOPMed rs565166649, gnomAD rs565166649, REVEL 0.30, CADD 25.40, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- N63N (p.Asn63Asn), gnomAD 12-64460290-T-C, CADD 10.80
- H64N (p.His64Asn), gnomAD 12-64460291-C-A, REVEL 0.82, CADD 25.30
- H64Q (p.His64Gln), gnomAD 12-64460293-C-A, REVEL 0.82, CADD 23.70
- N66I (p.Asn66Ile), gnomAD rs1164174065
- N66S (p.Asn66Ser), gnomAD rs1164174065, REVEL 0.56, CADD 25.50
- N66N (p.Asn66Asn), rs761175293, gnomAD 12-64460299-T-C, CADD 9.39
- I67T (p.Ile67Thr), gnomAD rs1460417033, REVEL 0.80, CADD 26.70
- I67I (p.Ile67Ile), rs143727988, gnomAD 12-64460302-T-C, CADD 11.60
- V68F (p.Val68Phe), gnomAD 12-64460303-G-T, REVEL 0.82, CADD 27.90
- V68I (p.Val68Ile), gnomAD 12-64460303-G-A, REVEL 0.30, CADD 24.40
- V68A (p.Val68Ala), gnomAD 12-64460304-T-C, REVEL 0.85, CADD 27.00
- V68V (p.Val68Val), rs777037017, gnomAD 12-64460305-C-T, CADD 9.88
- K69R (p.Lys69Arg), gnomAD 12-64460307-A-G, REVEL 0.41, CADD 24.40
- L70* (p.Leu70Ter), NCI-TCGA Cosmic COSV1005, Variant assessed as somatic; high impact.
- A72S (p.Ala72Ser), gnomAD 12-64460315-G-T, REVEL 0.27, CADD 27.50
- A72D (p.Ala72Asp), gnomAD 12-64460316-C-A, REVEL 0.46, CADD 26.00
- I73V (p.Ile73Val), rs751253214, ClinGen CA6668734, ClinVar RCV002938131, ClinVar RCV003403964, REVEL 0.09, CADD 17.20, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; TBK1-related dis
- I73N (p.Ile73Asn), gnomAD 12-64460319-T-A, REVEL 0.59, CADD 28.00
- I73I (p.Ile73Ile), rs766096052, gnomAD 12-64460320-T-C, CADD 12.80
- E74Q (p.Glu74Gln), ExAC rs751215465, gnomAD rs751215465, REVEL 0.31, CADD 27.40
- E74* (p.Glu74Ter), gnomAD 12-64460321-G-T, CADD 38.00
- E74E (p.Glu74Glu), rs759276622, gnomAD 12-64460323-A-G, CADD 10.70
- E75K (p.Glu75Lys), ExAC rs767071622, TOPMed rs767071622, gnomAD rs767071622, REVEL 0.57, CADD 31.00
- E75E (p.Glu75Glu), gnomAD 12-64460326-G-A, CADD 1.56
- E76del (p.Glu76del), gnomAD 12-64460320-TGAA-, CADD 22.10
- E76* (p.Glu76Ter), gnomAD 12-64460327-G-T, CADD 42.00
- E76G (p.Glu76Gly), gnomAD 12-64460328-A-G, REVEL 0.47, CADD 33.00
- E76E (p.Glu76Glu), gnomAD 12-64460329-G-A, CADD 22.70
- E76D (p.Glu76Asp), gnomAD 12-64460329-G-T, REVEL 0.31, CADD 33.00
- T77I (p.Thr77Ile), rs777044074, ClinGen CA6668758, ClinVar RCV002794819, ExAC rs777044074, REVEL 0.05, CADD 19.70, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- T77F (p.Thr77Phe), gnomAD 12-64464333-G-GTT, CADD 31.00
- T77A (p.Thr77Ala), gnomAD 12-64464334-A-G, REVEL 0.06, CADD 15.90
- p.Thr77 Thr78insPheLeu, gnomAD 12-64464335-C-CTT, CADD 17.80
- T77K (p.Thr77Lys), gnomAD 12-64464335-C-A, REVEL 0.10, CADD 19.10
- T77T (p.Thr77Thr), gnomAD 12-64464336-A-T, CADD 16.00
- T78A (p.Thr78Ala), TOPMed rs2040580437, REVEL 0.06, CADD 22.50
- T78S (p.Thr78Ser), gnomAD 12-64464337-A-T, REVEL 0.04, CADD 15.60
Public TBK1 analysis runs
- TBK1 analysis run — TBK1 (901 variants) — completed 2026-08-21