TUBB2B (Tubulin beta-2B chain) variants and mutations
TUBB2B (also known as Tubulin beta-2B chain) is a human protein-coding gene encoding a tubulin beta-2B chain protein. It contributes to neuronal microtubules needed for progenitor division, neuronal migration, axon development, and cortical organization. Heterozygous pathogenic variants cause tubulinopathy with polymicrogyria, cortical dysplasia, developmental delay, and sometimes epilepsy. This analysis covers 669 TUBB2B variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes complex cortical dysplasia with other brain malformations 7, Polymicrogyria due to TUBB2B mutation, and breast cancer. Example TUBB2B variants include M1?, M1I, and R2H.
Variant analysis overview
- Gene: TUBB2B
- Protein: Tubulin beta-2B chain
- UniProt accession: Q9BVA1
- Organism: Homo sapiens
- Variants analyzed: 669
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 288 unspecified-consequence records; 16 frameshift variants; 214 synonymous variants; 130 missense variants; 9 stop-gained variants; 5 in-frame deletions; 2 in-frame insertions; 2 splice-region variants; 3 substitution
- Prediction scores: 547 variants have prediction scores (82% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: complex cortical dysplasia with other brain malformations 7, Polymicrogyria due to TUBB2B mutation, breast cancer, breast carcinoma, non-small cell lung carcinoma, neoplasm, prostate cancer, breast neoplasm, Hodgkins lymphoma, gout, cervical cancer, plasma cell myeloma.
Protein structure and variant hotspots
- Protein features: 9 binding sites; 9 post-translational modification sites.
- PTM context: 12 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 TUBB2B variants
Examples include M1?, M1I, R2H, R2S, V5M, I7F, Q8*, A9E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV9945, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs2533621502, ClinGen CA362590456, ClinVar RCV003029958, Uncertain significance, not provided
- R2H (p.Arg2His), rs2113820430, ClinGen CA362590450, ClinVar RCV001819207, Ensembl rs2113820430, AlphaMissense 1.00, MetaLR 0.58, Likely pathogenic, not provided
- R2S (p.Arg2Ser), rs1581526962, ClinGen CA362590453, ClinVar RCV000985023, ClinVar RCV003238824, REVEL 0.71, CADD 29.80, Pathogenic, not provided; Inborn genetic diseases
- V5M (p.Val5Met), TOPMed rs1181218477, REVEL 0.53, CADD 25.60
- I7F (p.Ile7Phe), Ensembl rs1757304325
- Q8* (p.Gln8Ter), rs2533621477, ClinGen CA362590410, ClinVar RCV003444491, Uncertain significance
- A9E (p.Ala9Glu), rs2533621468, ClinGen CA362590399, ClinVar RCV003565224, REVEL 0.55, CADD 29.60, Uncertain significance, not provided
- A9V (p.Ala9Val), NCI-TCGA TCGA novel, REVEL 0.23, CADD 25.10, Variant assessed as somatic; moderate impact.
- G10S (p.Gly10Ser), gnomAD rs1182740830
- Q11H (p.Gln11His), rs1135401758, ClinGen CA362590385, ClinVar RCV000496148, ClinVar RCV000519098, AlphaMissense 1.00, MetaLR 0.66, Likely pathogenic, not provided
- Q11R (p.Gln11Arg), rs2113820411, ClinGen CA362590388, ClinVar RCV001825335, Ensembl rs2113820411, AlphaMissense 0.99, MetaLR 0.64, not provided, Complex cortical dysplasia with other brain malformations 7; Complex cortical dy
- C12* (p.Cys12Ter), Ensembl rs1581526949, CADD 35.00
- G13C (p.Gly13Cys), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- G13S (p.Gly13Ser), gnomAD rs1484440779, REVEL 0.84, CADD 30.00
- N14S (p.Asn14Ser), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- Q15K (p.Gln15Lys), rs1085307566, ClinGen CA362590362, ClinVar RCV000489377, ClinVar RCV000515493, REVEL 0.59, CADD 25.30, Conflicting interpretations, not provided; Complex cortical dysplasia with other brain malformations 7
- A18T (p.Ala18Thr), NCI-TCGA TCGA novel, REVEL 0.29, CADD 22.90, Variant assessed as somatic; moderate impact.
- K19M (p.Lys19Met), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- K19Q (p.Lys19Gln), rs1057517932, ClinGen CA16042649, ClinVar RCV000414164, Ensembl rs1057517932, AlphaMissense 0.95, MetaLR 0.21, Likely pathogenic, not provided
- W21R (p.Trp21Arg), gnomAD 6-3226666-A-T, REVEL 0.90, CADD 32.00
- E22* (p.Glu22Ter), TOPMed rs1757291243, gnomAD rs1757291243, CADD 40.00
- E22E (p.Glu22Glu), rs1757291202, gnomAD 6-3226661-C-T, CADD 13.30
- V23F (p.Val23Phe), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- V23V (p.Val23Val), rs1390798998, gnomAD 6-3226658-G-A, CADD 14.40
- I24N (p.Ile24Asn), Ensembl rs1757291141
- I24V (p.Ile24Val), rs2113819824, ClinGen CA362590027, ClinVar RCV001797034, Ensembl rs2113819824, REVEL 0.44, CADD 23.40, Uncertain significance, TUBB2B-related tubulinopathy
- S25G (p.Ser25Gly), rs1757291106, ClinGen CA362590020, ClinVar RCV001291308, Ensembl rs1757291106, AlphaMissense 0.28, MetaLR 0.26, Uncertain significance, Lissencephaly
- D26D (p.Asp26Asp), gnomAD 6-3226649-A-G, CADD 13.50
- E27D (p.Glu27Asp), rs1757291076, ClinGen CA362589999, ClinVar RCV001262635, Ensembl rs1757291076, AlphaMissense 1.00, MetaLR 0.51, Uncertain significance, Complex cortical dysplasia with other brain malformations 7
- H28H (p.His28His), gnomAD 6-3226643-A-G, CADD 7.79
- I30T (p.Ile30Thr), ExAC rs769803437, gnomAD rs769803437, REVEL 0.79, CADD 29.60
- I30V (p.Ile30Val), Ensembl rs11550259
- I30D (p.Ile30Asp), gnomAD 6-3226640-C-CT, CADD 29.60
- D31E (p.Asp31Glu), TOPMed rs1459863771, gnomAD rs1459863771, REVEL 0.39, CADD 22.80
- D31D (p.Asp31Asp), rs1459863771, gnomAD 6-3226634-G-A, CADD 13.60
- P32P (p.Pro32Pro), gnomAD 6-3226631-G-A, CADD 15.20
- P32S (p.Pro32Ser), gnomAD 6-3226633-G-A, REVEL 0.38, CADD 23.00
- T33P (p.Thr33Pro), gnomAD rs1367247794
- T33T (p.Thr33Thr), rs959727644, gnomAD 6-3226628-A-C, CADD 6.46
- G34S (p.Gly34Ser), Ensembl rs1561827214, REVEL 0.82, CADD 31.00
- S35S (p.Ser35Ser), rs1164572745, gnomAD 6-3226622-A-G, CADD 15.60
- H37H (p.His37His), rs11550264, gnomAD 6-3226616-A-G, CADD 14.10
- H37M (p.His37Met), gnomAD 6-3226617-TG-T, CADD 33.00
- H37R (p.His37Arg), gnomAD 6-3226617-T-C, REVEL 0.25, CADD 22.80
- G38V (p.Gly38Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D39G (p.Asp39Gly), gnomAD rs1757290815, REVEL 0.65, CADD 25.70, Uncertain significance, TUBB2B-related disorder
- D39N (p.Asp39Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D39H (p.Asp39His), gnomAD 6-3226612-C-G, REVEL 0.60, CADD 24.90
- S40T (p.Ser40Thr), Ensembl rs1757290683
- D41E (p.Asp41Glu), rs748385221, ClinGen CA362589899, ClinVar RCV002279011, ExAC rs748385221, AlphaMissense 0.24, MetaLR 0.13, Uncertain significance, not provided
- D41D (p.Asp41Asp), rs748385221, gnomAD 6-3226604-A-G, AlphaMissense 0.24, MetaLR 0.13
- L42F (p.Leu42Phe), rs76191712, ClinGen CA251177, ClinVar RCV000147835, Ensembl rs76191712, AlphaMissense 0.82, MetaLR 0.47, Uncertain significance, Complex cortical dysplasia with other brain malformations 7
- L44L (p.Leu44Leu), rs781453680, gnomAD 6-3226595-C-G, CADD 13.40
- E45E (p.Glu45Glu), rs1757290440, gnomAD 6-3226592-C-T, CADD 12.40
- R46K (p.Arg46Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I47I (p.Ile47Ile), rs1436219319, gnomAD 6-3226586-G-T, CADD 14.10
- N48S (p.Asn48Ser), gnomAD rs1757290358, REVEL 0.10, CADD 21.90
- N48Y (p.Asn48Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y50Y (p.Tyr50Tyr), rs913299853, gnomAD 6-3226577-G-A, CADD 12.90
- N52N (p.Asn52Asn), rs1437501793, gnomAD 6-3226571-A-G, CADD 6.58
- E53K (p.Glu53Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E53* (p.Glu53Ter), gnomAD 6-3226570-C-A, CADD 40.00
- A54A (p.Ala54Ala), gnomAD 6-3226565-G-T, CADD 11.80
- T55T (p.Thr55Thr), gnomAD 6-3226562-A-G, CADD 15.20
- T55I (p.Thr55Ile), gnomAD 6-3226563-G-A, REVEL 0.25, CADD 29.00
- G56G (p.Gly56Gly), gnomAD 6-3226268-A-G, CADD 17.60
- N57N (p.Asn57Asn), gnomAD 6-3226265-G-A, CADD 11.20
- K58T (p.Lys58Thr), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- K58K (p.Lys58Lys), gnomAD 6-3226262-T-C, CADD 6.82
- Y59Y (p.Tyr59Tyr), gnomAD 6-3226259-A-G, CADD 1.34
- Y59F (p.Tyr59Phe), gnomAD 6-3226260-T-A, REVEL 0.23, CADD 22.50
- V60F (p.Val60Phe), rs2113819578, ClinGen CA362589756, ClinVar RCV003886895, AlphaMissense 0.27, MetaLR 0.27, Likely pathogenic, not provided
- V60I (p.Val60Ile), rs2113819578, ClinGen CA362589755, ClinVar RCV002052199, ClinVar RCV003565506, AlphaMissense 0.27, MetaLR 0.27, Uncertain significance, not provided; Complex cortical dysplasia with other brain malformations 7
- V60V (p.Val60Val), rs995757887, gnomAD 6-3226256-A-G, CADD 2.72
- V60A (p.Val60Ala), gnomAD 6-3226257-A-G, REVEL 0.49, CADD 26.50
- P61L (p.Pro61Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P61S (p.Pro61Ser), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- R62W (p.Arg62Trp), rs2533618443, ClinGen CA362589744, ClinVar RCV002860625, REVEL 0.70, CADD 28.60, Uncertain significance, Inborn genetic diseases
- A63S (p.Ala63Ser), rs2533618439, ClinGen CA362589740, ClinVar RCV002627240, ClinVar RCV005764646, Uncertain significance, not provided; Inborn genetic diseases
- A63A (p.Ala63Ala), gnomAD 6-3226247-G-A, CADD 11.50
- I64N (p.Ile64Asn), gnomAD 6-3226245-A-T, REVEL 0.68, CADD 27.90
- I64V (p.Ile64Val), gnomAD 6-3226246-T-C, REVEL 0.15, CADD 16.90
- L65F (p.Leu65Phe), Ensembl rs11550267
- L65R (p.Leu65Arg), ExAC rs779620048, gnomAD rs779620048, REVEL 0.79, CADD 25.00
- L65L (p.Leu65Leu), gnomAD 6-3226241-G-C, CADD 8.96
- V66L (p.Val66Leu), Ensembl rs1757286302, REVEL 0.46, CADD 22.40
- D67D (p.Asp67Asp), gnomAD 6-3226235-A-G, CADD 9.07
- D67Y (p.Asp67Tyr), gnomAD 6-3226237-C-A, REVEL 0.84, CADD 29.10
- L68V (p.Leu68Val), rs2113819569, ClinGen CA362589709, ClinVar RCV001760671, Ensembl rs2113819569, AlphaMissense 0.98, MetaLR 0.66, Uncertain significance, not provided
- E69Q (p.Glu69Gln), rs1554126964, ClinGen CA362589703, ClinVar RCV000656280, Ensembl rs1554126964, AlphaMissense 1.00, MetaLR 0.77, Likely pathogenic, not provided
- E69E (p.Glu69Glu), rs1297739549, gnomAD 6-3226229-C-T, CADD 10.20
- P70S (p.Pro70Ser), rs1554126963, ClinGen CA362589696, ClinVar RCV000658023, Ensembl rs1554126963, AlphaMissense 0.96, MetaLR 0.59, Uncertain significance, not provided
- P70T (p.Pro70Thr), rs1554126963, ClinGen CA362589695, ClinVar RCV001253138, Ensembl rs1554126963, AlphaMissense 0.96, MetaLR 0.59, Uncertain significance, Complex cortical dysplasia with other brain malformations 7
- G71G (p.Gly71Gly), gnomAD 6-3226223-G-A, CADD 14.40
- T72M (p.Thr72Met), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- T72T (p.Thr72Thr), rs752292801, gnomAD 6-3226220-C-T, CADD 7.00
- S75L (p.Ser75Leu), rs1043113503, NCI-TCGA Cosmic COSV5253, TOPMed rs1043113503, AlphaMissense 0.71, MetaLR 0.35, Uncertain significance, not provided
- S75T (p.Ser75Thr), rs2533618370, ClinGen CA362589661, ClinVar RCV002938087, Uncertain significance, not provided
- S75S (p.Ser75Ser), rs374712202, gnomAD 6-3226211-C-G, CADD 1.95
- V76V (p.Val76Val), rs1581526198, gnomAD 6-3226208-A-G, CADD 9.94
- G79A (p.Gly79Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P80L (p.Pro80Leu), gnomAD rs1757285809, REVEL 0.60, CADD 25.00
- P80P (p.Pro80Pro), rs751110580, gnomAD 6-3226196-T-C, CADD 10.80
- F81L (p.Phe81Leu), rs1403441857, ClinVar RCV004595284, Likely pathogenic, Complex cortical dysplasia with other brain malformations 7
- F81F (p.Phe81Phe), rs1403441857, gnomAD 6-3226193-G-A, CADD 8.63
- F81Y (p.Phe81Tyr), gnomAD 6-3226194-A-T, REVEL 0.38, CADD 22.80
- G82S (p.Gly82Ser), rs766214058, ClinGen CA3619230, ClinVar RCV002473418, ExAC rs766214058, AlphaMissense 0.83, MetaLR 0.42, Uncertain significance, not provided
- G82V (p.Gly82Val), rs1064797320, ClinGen CA16621833, ClinVar RCV000487738, Ensembl rs1064797320, AlphaMissense 1.00, MetaLR 0.70, Uncertain significance, not provided
- G82G (p.Gly82Gly), gnomAD 6-3226190-G-A, CADD 12.30
- F85L (p.Phe85Leu), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- R86I (p.Arg86Ile), rs2533618327, ClinVar RCV004566642, REVEL 0.64, CADD 24.10, Uncertain significance, Complex cortical dysplasia with other brain malformations 7
- P87T (p.Pro87Thr), gnomAD 6-3226177-G-T, REVEL 0.84, CADD 27.40
- D88E (p.Asp88Glu), gnomAD rs1433149626
- D88D (p.Asp88Asp), rs1433149626, gnomAD 6-3226172-G-A, CADD 10.80
- N89S (p.Asn89Ser), TOPMed rs1312030593, REVEL 0.38, CADD 22.80
- F90F (p.Phe90Phe), rs370337049, gnomAD 6-3226166-G-A, CADD 11.20
- V91M (p.Val91Met), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- G93R (p.Gly93Arg), TOPMed rs1245355996, gnomAD rs1245355996, REVEL 0.86, CADD 33.00
- Q94Q (p.Gln94Gln), rs1561826912, gnomAD 6-3225807-C-T, CADD 6.79
- Q94R (p.Gln94Arg), gnomAD 6-3225808-T-C, REVEL 0.63, CADD 23.00
- S95S (p.Ser95Ser), rs758017653, gnomAD 6-3225804-A-G, CADD 0.21
- G96E (p.Gly96Glu), rs2533617772, ClinGen CA362589481, ClinVar RCV002298377, Pathogenic, not provided
- A97V (p.Ala97Val), NCI-TCGA Cosmic COSV5253, Variant assessed as somatic; moderate impact.
- A97A (p.Ala97Ala), rs201078014, gnomAD 6-3225798-G-C, CADD 0.07
- G98R (p.Gly98Arg), rs797046075, ClinGen CA251306, ClinVar RCV000192694, ClinVar RCV000422483, REVEL 0.84, CADD 24.10, Conflicting interpretations, not provided; Complex cortical dysplasia with other brain malformations 7
- G98G (p.Gly98Gly), gnomAD 6-3225795-C-A, CADD 0.74
- N100Y (p.Asn100Tyr), rs1757279879, ClinGen CA362589434, ClinVar RCV001291307, Ensembl rs1757279879, AlphaMissense 0.99, MetaLR 0.78, Likely pathogenic, Lissencephaly
- W101* (p.Trp101Ter), gnomAD rs1206938944
- W101S (p.Trp101Ser), gnomAD 6-3225787-C-G, REVEL 0.83, CADD 27.90
- A102A (p.Ala102Ala), rs761771602, gnomAD 6-3225783-G-A, CADD 2.50
- A102D (p.Ala102Asp), gnomAD 6-3225784-G-T, REVEL 0.84, CADD 27.70
- K103K (p.Lys103Lys), rs1271743963, gnomAD 6-3225780-C-T, CADD 8.71
- Y106Y (p.Tyr106Tyr), rs1554126937, gnomAD 6-3225771-G-A, CADD 9.81
- E108Q (p.Glu108Gln), NCI-TCGA Cosmic COSV9945, Variant assessed as somatic; moderate impact.
- A110G (p.Ala110Gly), NCI-TCGA Cosmic COSV9945, Variant assessed as somatic; moderate impact.
- A110V (p.Ala110Val), TOPMed rs1389568978
- A110A (p.Ala110Ala), rs141251993, gnomAD 6-3225759-G-A, CADD 6.47
- E111* (p.Glu111Ter), NCI-TCGA Cosmic COSV9945, Variant assessed as somatic; high impact.
- E111D (p.Glu111Asp), gnomAD rs1286271941, REVEL 0.52, CADD 22.80
- E111K (p.Glu111Lys), rs1357714041, NCI-TCGA Cosmic COSV9945, gnomAD rs1357714041, REVEL 0.76, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- E111E (p.Glu111Glu), gnomAD 6-3225756-C-T, CADD 8.33
- L112L (p.Leu112Leu), rs1757279453, gnomAD 6-3225753-C-A, CADD 10.10
- V113V (p.Val113Val), gnomAD 6-3225750-G-C, CADD 5.70
- V113I (p.Val113Ile), gnomAD 6-3225752-C-T, REVEL 0.26, CADD 20.20
- D114N (p.Asp114Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D114D (p.Asp114Asp), rs1057520821, gnomAD 6-3225747-G-A, CADD 10.80
- S115L (p.Ser115Leu), Ensembl rs1356173511, REVEL 0.59, CADD 24.60
- S115S (p.Ser115Ser), rs760721832, gnomAD 6-3225744-C-T, CADD 2.91
- L117P (p.Leu117Pro), rs397514569, ClinGen CA250742, ClinVar RCV000032934, ClinVar RCV000439702, AlphaMissense 1.00, MetaLR 0.68, Likely pathogenic, not provided
- D118D (p.Asp118Asp), rs111726475, gnomAD 6-3225735-A-G, CADD 7.14
- V119V (p.Val119Val), rs891802477, gnomAD 6-3225732-C-G, CADD 10.20
- V120V (p.Val120Val), rs1352806580, gnomAD 6-3225729-C-T, CADD 8.19
- S124A (p.Ser124Ala), gnomAD 6-3225719-A-C, REVEL 0.13, CADD 18.40
- S126S (p.Ser126Ser), rs772459527, gnomAD 6-3225711-G-A, CADD 11.90
- D128D (p.Asp128Asp), gnomAD 6-3225705-G-A, CADD 12.20
- L130L (p.Leu130Leu), rs1405829840, gnomAD 6-3225699-G-C, CADD 8.50
- Q131Q (p.Gln131Gln), gnomAD 6-3225696-C-T, CADD 11.00
- G132S (p.Gly132Ser), rs1554126928, ClinGen CA362588934, ClinVar RCV000522271, Ensembl rs1554126928, AlphaMissense 1.00, MetaLR 0.64, Uncertain significance, not provided
- F133F (p.Phe133Phe), gnomAD 6-3225690-G-A, CADD 13.30
- H137P (p.His137Pro), gnomAD 6-3225679-T-G, REVEL 0.84, CADD 24.40
- H137N (p.His137Asn), gnomAD 6-3225680-G-T, REVEL 0.77, AlphaMissense 0.92
- S138F (p.Ser138Phe), gnomAD 6-3225676-G-A, REVEL 0.89, CADD 29.70
- L139P (p.Leu139Pro), rs2533617634, ClinGen CA362588806, ClinVar RCV003985151, NCI-TCGA TCGA novel, Likely pathogenic, Tubulinopathy
- L139R (p.Leu139Arg), rs780152583, gnomAD 6-3225672-CA-C, CADD 32.00
- L139L (p.Leu139Leu), rs746063111, gnomAD 6-3225672-C-G, CADD 11.10
- G141C (p.Gly141Cys), gnomAD rs1412515838, REVEL 0.82, AlphaMissense 1.00, Pathogenic
- G141S (p.Gly141Ser), rs1412515838, ClinGen CA362588777, ClinVar RCV001375946, ClinVar RCV003264027, AlphaMissense 1.00, MetaLR 0.84, Conflicting interpretations, Inborn genetic diseases; Complex cortical dysplasia with other brain malformatio
- G141G (p.Gly141Gly), rs1757278649, gnomAD 6-3225666-G-A, CADD 6.03
- G142R (p.Gly142Arg), ExAC rs774873878, gnomAD rs774873878, REVEL 0.92, AlphaMissense 1.00, Uncertain significance
- G142S (p.Gly142Ser), rs774873878, ClinGen CA362588762, ClinVar RCV000501486, ClinVar RCV004760541, AlphaMissense 1.00, MetaLR 0.92, Uncertain significance, not provided; not specified
- G142G (p.Gly142Gly), gnomAD 6-3225663-G-C, CADD 10.40
- T143M (p.Thr143Met), rs1294933377, NCI-TCGA Cosmic COSV5253, Ensembl rs1294933377, AlphaMissense 1.00, MetaLR 0.87, Variant assessed as somatic; moderate impact.
- T143T (p.Thr143Thr), rs371966145, gnomAD 6-3225660-C-T, CADD 1.72
- G144E (p.Gly144Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G144G (p.Gly144Gly), gnomAD 6-3225657-C-G, CADD 8.40
- S145S (p.Ser145Ser), rs553343067, gnomAD 6-3225654-G-A, CADD 2.71
- G146R (p.Gly146Arg), NCI-TCGA Cosmic COSV9945, REVEL 0.96, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- G146W (p.Gly146Trp), rs2113819270, ClinGen CA362588709, NCI-TCGA Cosmic COSV9945, ClinVar RCV001786836, AlphaMissense 1.00, MetaLR 0.96, Uncertain significance, not provided; Inborn genetic diseases
- M147I (p.Met147Ile), TOPMed rs1275785044
Public TUBB2B analysis runs
- TUBB2B analysis run — TUBB2B (669 variants) — completed 2026-08-20