TUBA1A (Tubulin alpha-1A chain) variants and mutations
TUBA1A (also known as Tubulin alpha-1A chain) is a human protein-coding gene encoding a tubulin alpha-1A chain protein. An alpha-tubulin chain that pairs with beta-tubulin to build microtubules. Microtubules provide tracks for transport and help shape dividing and migrating cells, making TUBA1A especially important for fetal brain development. This analysis covers 731 TUBA1A variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes lissencephaly due to TUBA1A mutation, tubulinopathy, and tubulinopathy-associated dysgyria. Example TUBA1A variants include R2C, R2H, and R2S.
Variant analysis overview
- Gene: TUBA1A
- Protein: Tubulin alpha-1A chain
- UniProt accession: Q71U36
- Organism: Homo sapiens
- Variants analyzed: 731
- Variant scope: all variants
- Completed: 2026-06-13
Variant and mutation evidence
- Variant composition: 434 unspecified-consequence records; 1 stop retained variant; 162 synonymous variants; 6 stop-gained variants; 101 missense variants; 2 in-frame deletions; 16 frameshift variants; 2 stop lost; 2 in-frame insertions; 1 splice-region variants; 4 substitution
- Prediction scores: 600 variants have prediction scores (82% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: lissencephaly due to TUBA1A mutation, tubulinopathy, tubulinopathy-associated dysgyria, lissencephaly type 3, Intellectual disability, non-small cell lung carcinoma, breast cancer, neoplasm, breast neoplasm, breast carcinoma, gout, Lissencephaly.
Protein structure and variant hotspots
- Protein features: 9 binding sites; 6 post-translational modification sites.
- PTM context: 10 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, ClinGen, PharmGKB, MaveDB, LitVar.
Notable TUBA1A variants
Examples include R2C, R2H, R2S, E3*, E3E, C4*, I5L, S6C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- R2C (p.Arg2Cys), rs1565627805, cosmic curated COSV55498, ClinVar RCV004595288, AlphaMissense 0.99, MetaLR 0.66, Pathogenic, Lissencephaly due to TUBA1A mutation
- R2H (p.Arg2His), rs587784491, ClinGen CA204630, ClinVar RCV000147815, ClinVar RCV000190671, AlphaMissense 0.99, MetaLR 0.41, Pathogenic/Likely pathogenic, Neurodevelopmental disorder; Tubulinopathy-associated dysgyria; Tubulinopathy
- R2S (p.Arg2Ser), rs1565627805, ClinGen CA384646402, ClinVar RCV000767427, Ensembl rs1565627805, AlphaMissense 0.99, MetaLR 0.66, Pathogenic, Tubulinopathy
- E3* (p.Glu3Ter), Ensembl rs1555162561
- E3E (p.Glu3Glu), rs764828844, gnomAD 12-49186828-C-T, CADD 13.70, SIFT 0.25
- C4* (p.Cys4Ter), Ensembl rs1555162558
- I5L (p.Ile5Leu), rs387906840, ClinGen CA213184, ClinVar RCV000023197, ClinVar RCV000767414, AlphaMissense 0.14, MetaLR 0.38, Likely pathogenic, Tubulinopathy
- S6C (p.Ser6Cys), rs1057520574, ClinGen CA16606562, ClinVar RCV000423889, ClinVar RCV000767454, AlphaMissense 0.50, MetaLR 0.62, Pathogenic/Likely pathogenic, Tubulinopathy; not provided
- H8Y (p.His8Tyr), cosmic curated COSV10515, SIFT 0.16
- H8H (p.His8His), rs143047732, gnomAD 12-49186813-G-A, CADD 9.54, SIFT 0.16
- V9A (p.Val9Ala), rs1565627795, ClinGen CA384646184, ClinVar RCV001268107, ClinVar RCV001797790, AlphaMissense 0.62, MetaLR 0.56, Conflicting interpretations, not provided; Lissencephaly due to TUBA1A mutation
- V9I (p.Val9Ile), TOPMed rs1942187442, gnomAD rs1942187442, REVEL 0.18, MetaLR 0.20
- V9F (p.Val9Phe), gnomAD 12-49186812-C-A, REVEL 0.74, MetaLR 0.68
- Q11* (p.Gln11Ter), gnomAD 12-49186806-G-A, CADD 36.00
- A12P (p.Ala12Pro), rs2498863670, ClinGen CA384646112, ClinVar RCV003402831, Uncertain significance, TUBA1A-related disorder
- G13A (p.Gly13Ala), rs2121248621, ClinGen CA384646089, ClinVar RCV001816116, Ensembl rs2121248621, AlphaMissense 0.98, MetaLR 0.91, Likely pathogenic, not provided
- G13S (p.Gly13Ser), TOPMed rs1000599828, SIFT 0.21, Uncertain significance, not provided
- V14F (p.Val14Phe), TOPMed rs1565627791
- V14L (p.Val14Leu), cosmic curated COSV10962
- Q15H (p.Gln15His), Ensembl rs61730858
- Q15P (p.Gln15Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q15Q (p.Gln15Gln), rs61730858, gnomAD 12-49186792-C-T, CADD 13.40, SIFT 0.13
- I16T (p.Ile16Thr), rs1942187200, ClinGen CA384646043, ClinVar RCV001095672, NCI-TCGA TCGA novel, AlphaMissense 0.53, MetaLR 0.62, Likely pathogenic, Lissencephaly due to TUBA1A mutation
- G17D (p.Gly17Asp), rs2121248568, ClinGen CA384646007, ClinVar RCV001796561, Ensembl rs2121248568, AlphaMissense 1.00, MetaLR 0.78, Pathogenic, Cerebral palsy
- G17G (p.Gly17Gly), gnomAD 12-49186786-G-A, CADD 14.40, SIFT 0.13
- N18I (p.Asn18Ile), rs1064795213, ClinGen CA384645977, ClinVar RCV001986359, Ensembl rs1064795213, AlphaMissense 0.90, MetaLR 0.67, Likely pathogenic, not provided
- N18S (p.Asn18Ser), rs1064795213, ClinGen CA16619552, ClinVar RCV000482824, ClinVar RCV000501252, REVEL 0.39, AlphaMissense 0.90, Conflicting interpretations, Lissencephaly due to TUBA1A mutation; not specified; not provided
- N18Y (p.Asn18Tyr), rs2498863626, ClinGen CA384645994, ClinVar RCV003883312, Likely pathogenic, Lissencephaly due to TUBA1A mutation
- E22E (p.Glu22Glu), rs375516850, gnomAD 12-49186771-C-T, CADD 13.50, SIFT 0.34
- L23F (p.Leu23Phe), cosmic curated COSV55498, Ensembl rs1592260527
- L23L (p.Leu23Leu), gnomAD 12-49186768-G-A, CADD 14.00, SIFT 1.00
- Y24C (p.Tyr24Cys), rs2121248469, ClinGen CA384645803, ClinVar RCV001900922, Ensembl rs2121248469, REVEL 0.79, MetaLR 0.60, Uncertain significance, not provided
- Y24H (p.Tyr24His), rs2498863600, ClinGen CA384645817, ClinVar RCV002294930, Uncertain significance, not provided
- C25F (p.Cys25Phe), rs1565627777, ClinGen CA384645769, ClinVar RCV000767425, ClinVar RCV003558566, AlphaMissense 1.00, MetaLR 0.70, Pathogenic, not provided; Tubulinopathy
- C25Y (p.Cys25Tyr), rs1565627777, ClinGen CA384645767, ClinVar RCV000985164, Ensembl rs1565627777, AlphaMissense 1.00, MetaLR 0.70, Likely pathogenic, Lissencephaly due to TUBA1A mutation
- L26L (p.Leu26Leu), rs1440511933, gnomAD 12-49186759-C-T, CADD 14.30
- E27Q (p.Glu27Gln), rs1057521064, ClinGen CA16606296, ClinVar RCV000425962, ClinVar RCV000767421, AlphaMissense 0.99, MetaLR 0.81, Pathogenic, not provided; Tubulinopathy
- E27E (p.Glu27Glu), rs1592260513, gnomAD 12-49186756-T-C, CADD 12.20, SIFT 0.62
- H28Y (p.His28Tyr), rs1555162549, ClinGen CA384645701, ClinVar RCV000498733, ClinVar RCV000767452, AlphaMissense 0.99, MetaLR 0.73, Conflicting interpretations, Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- H28H (p.His28His), rs761327879, gnomAD 12-49186753-G-A, CADD 2.48, SIFT 0.58
- G29D (p.Gly29Asp), cosmic curated COSV55497, MetaLR 0.74, MetaSVM 0.47
- G29G (p.Gly29Gly), rs1942186590, gnomAD 12-49186750-G-A, CADD 14.60, SIFT 0.19
- I30I (p.Ile30Ile), rs1942186545, gnomAD 12-49186747-G-A, CADD 13.10, SIFT 0.64
- Q31H (p.Gln31His), cosmic curated COSV55499
- Q31L (p.Gln31Leu), gnomAD 12-49186745-T-A, REVEL 0.53, MetaLR 0.27
- P32S (p.Pro32Ser), NCI-TCGA TCGA novel, MetaLR 0.52, MetaSVM 0.11, Variant assessed as somatic; moderate impact.
- P32P (p.Pro32Pro), rs139102191, gnomAD 12-49186741-G-C, CADD 8.95, SIFT 0.90
- D33N (p.Asp33Asn), NCI-TCGA Cosmic COSV9985, cosmic curated COSV99853, REVEL 0.30, MetaLR 0.36, Variant assessed as somatic; moderate impact.
- D33D (p.Asp33Asp), gnomAD 12-49186738-A-G, CADD 14.50, SIFT 0.48
- G34C (p.Gly34Cys), cosmic curated COSV99853, SIFT 0.28
- Q35* (p.Gln35Ter), cosmic curated COSV55498
- Q35H (p.Gln35His), cosmic curated COSV55497
- M36V (p.Met36Val), NCI-TCGA Cosmic COSV9985, cosmic curated COSV99853, MetaLR 0.46, MetaSVM -0.28, Variant assessed as somatic; moderate impact.
- P37L (p.Pro37Leu), rs2498863514, ClinGen CA384645436, ClinVar RCV003693318, Likely pathogenic, not provided
- S38R (p.Ser38Arg), cosmic curated COSV55497, SIFT 0.15, Uncertain significance, Lissencephaly due to TUBA1A mutation
- D39N (p.Asp39Asn), NCI-TCGA TCGA novel, MetaLR 0.59, MetaSVM -0.06, Variant assessed as somatic; moderate impact.
- K40K (p.Lys40Lys), rs1454229079, gnomAD 12-49186717-C-T, CADD 14.20, SIFT 0.60
- T41T (p.Thr41Thr), rs200198307, gnomAD 12-49186714-G-A, CADD 13.20, SIFT 0.55
- T41S (p.Thr41Ser), gnomAD 12-49186715-G-C, REVEL 0.23, MetaLR 0.30
- I42T (p.Ile42Thr), 1000Genomes rs1247802698, TOPMed rs1247802698, gnomAD rs1247802698, REVEL 0.36, MetaLR 0.34, Uncertain significance, not provided
- I42F (p.Ile42Phe), gnomAD 12-49186713-T-A, REVEL 0.37, MetaLR 0.42
- G43V (p.Gly43Val), rs2498863473, ClinGen CA384645281, ClinVar RCV003198042, ClinVar RCV004765769, Conflicting interpretations, not provided; Inborn genetic diseases
- G43A (p.Gly43Ala), gnomAD 12-49186709-C-G, REVEL 0.40, MetaLR 0.60
- G44E (p.Gly44Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G44G (p.Gly44Gly), rs772518269, gnomAD 12-49186705-T-A, CADD 13.50, SIFT 0.33
- G45R (p.Gly45Arg), gnomAD 12-49186705-T-TC, CADD 29.50
- D46V (p.Asp46Val), rs2121248103, ClinGen CA384645238, ClinVar RCV001836670, Ensembl rs2121248103, AlphaMissense 0.90, MetaLR 0.88, Likely pathogenic, Lissencephaly due to TUBA1A mutation
- D47H (p.Asp47His), rs1555162536, ClinGen CA384645222, ClinVar RCV000498855, ClinVar RCV000767517, AlphaMissense 0.95, MetaLR 0.80, Likely pathogenic, Tubulinopathy; not provided
- D47D (p.Asp47Asp), rs762120179, gnomAD 12-49186696-A-G, CADD 12.50, SIFT 1.00
- S48Y (p.Ser48Tyr), Ensembl rs11558073, MetaLR 0.86, MetaSVM 0.96
- F49T (p.Phe49Thr), NCI-TCGA TCGA novel, MetaLR 0.95, MetaSVM 1.07, Variant assessed as somatic; high impact.
- N50N (p.Asn50Asn), gnomAD 12-49186687-G-A, CADD 12.40, SIFT 0.01
- T51I (p.Thr51Ile), rs587784485, ClinGen CA213262, ClinVar RCV000147801, ClinVar RCV000767516, AlphaMissense 0.99, MetaLR 0.90, Likely pathogenic, Tubulinopathy; Lissencephaly due to TUBA1A mutation
- T51T (p.Thr51Thr), rs11558072, gnomAD 12-49186684-G-C, CADD 13.20, SIFT 0.04
- F52L (p.Phe52Leu), NCI-TCGA Cosmic COSV5549, cosmic curated COSV55496, MetaLR 0.92, MetaSVM 1.08, Variant assessed as somatic; moderate impact.
- F53S (p.Phe53Ser), cosmic curated COSV10515, MetaLR 0.98, MetaSVM 1.04
- F53F (p.Phe53Phe), rs1281750454, gnomAD 12-49186678-G-A, CADD 14.60, SIFT 0.14
- S54N (p.Ser54Asn), rs1565627740, ClinGen CA384645031, ClinVar RCV000767484, Ensembl rs1565627740, AlphaMissense 0.40, MetaLR 0.61, Pathogenic, Tubulinopathy
- S54R (p.Ser54Arg), rs587784486, ClinGen CA213264, ClinVar RCV000147802, ClinVar RCV000767515, AlphaMissense 0.98, MetaLR 0.72, Likely pathogenic, Tubulinopathy; Lissencephaly due to TUBA1A mutation
- S54P (p.Ser54Pro), rs1260434535, gnomAD 12-49186554-A-G, CADD 4.33, SIFT 0.13
- S54F (p.Ser54Phe), rs1426550045, gnomAD 12-49186580-G-A, CADD 11.60, SIFT 0.14
- S54S (p.Ser54Ser), rs1414252366, gnomAD 12-49186597-T-G, CADD 5.79
- E55K (p.Glu55Lys), rs1565627735, ClinGen CA384645019, ClinVar RCV000767407, Ensembl rs1565627735, AlphaMissense 0.95, MetaLR 0.91, Pathogenic, Tubulinopathy
- E55E (p.Glu55Glu), rs1055904, gnomAD 12-49186672-C-T, CADD 10.00, SIFT 0.59
- T56M (p.Thr56Met), rs1565627727, ClinGen CA384644979, NCI-TCGA Cosmic COSV5549, cosmic curated COSV55497, AlphaMissense 0.85, MetaLR 0.81, Pathogenic, Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- T56N (p.Thr56Asn), rs2121247899, ClinGen CA2580086346, ClinVar RCV002276375, Ensembl rs2121247899, Likely pathogenic, not provided
- T56T (p.Thr56Thr), rs1215478236, gnomAD 12-49186669-C-T, CADD 0.33, SIFT 0.42
- G57G (p.Gly57Gly), gnomAD 12-49186666-C-G, CADD 2.04, SIFT 0.58
- A58S (p.Ala58Ser), Ensembl rs1565627718, MetaLR 0.40, MetaSVM -0.45
- A58A (p.Ala58Ala), rs1592260421, gnomAD 12-49186663-A-G, CADD 7.31, SIFT 0.07
- G59D (p.Gly59Asp), rs2498863350, ClinGen CA384644918, ClinVar RCV004481573, Uncertain significance, Inborn genetic diseases
- G59S (p.Gly59Ser), rs1565627712, ClinGen CA384644924, ClinVar RCV000767485, Ensembl rs1565627712, AlphaMissense 0.77, MetaLR 0.91, Pathogenic, Tubulinopathy
- K60N (p.Lys60Asn), rs1565627707, ClinGen CA384644898, ClinVar RCV000779654, ClinVar RCV001258015, AlphaMissense 0.98, MetaLR 0.76, Likely pathogenic, Congenital cerebellar hypoplasia; Cerebellar vermis hypoplasia; Lissencephaly du
- H61P (p.His61Pro), rs2498863339, ClinGen CA384644894, ClinVar RCV003397351, Likely pathogenic, TUBA1A-related disorder
- H61H (p.His61His), rs774605003, gnomAD 12-49186654-A-G, CADD 1.74, SIFT 0.35
- P63L (p.Pro63Leu), rs2121247772, ClinGen CA384644871, ClinVar RCV001843839, ClinVar RCV003708620, AlphaMissense 0.99, MetaLR 0.87, Conflicting interpretations, not provided; TUBA1A-associated tubulinopathy
- P63P (p.Pro63Pro), rs147273934, gnomAD 12-49186648-G-A, CADD 9.08, SIFT 0.01
- R64L (p.Arg64Leu), cosmic curated COSV99853
- R64Q (p.Arg64Gln), rs1942184922, ClinGen CA384644863, ClinVar RCV001266910, ClinVar RCV005861225, REVEL 0.87, MetaLR 0.73, Pathogenic/Likely pathogenic, Inborn genetic diseases; not provided
- R64W (p.Arg64Trp), rs1064794568, ClinGen CA16619551, ClinVar RCV000486860, ClinVar RCV000767424, AlphaMissense 1.00, MetaLR 0.78, Pathogenic/Likely pathogenic, Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- R64R (p.Arg64Arg), rs749375580, gnomAD 12-49186645-C-T, CADD 8.93, SIFT 0.17
- R64G (p.Arg64Gly), gnomAD 12-49186646-CG-C, CADD 22.00
- A65G (p.Ala65Gly), rs2498863291, ClinGen CA384644852, ClinVar RCV004556131, Uncertain significance, Lissencephaly due to TUBA1A mutation
- A65V (p.Ala65Val), NCI-TCGA TCGA novel, MetaLR 0.50, MetaSVM -0.02, Variant assessed as somatic; moderate impact.
- A65A (p.Ala65Ala), rs1438753464, gnomAD 12-49186642-T-A, CADD 1.01, SIFT 0.26
- V66V (p.Val66Val), rs1259749097, gnomAD 12-49186639-C-T, CADD 8.27, SIFT 0.27
- F67F (p.Phe67Phe), gnomAD 12-49186636-A-G, CADD 5.32, SIFT 0.00
- V68A (p.Val68Ala), rs2498863271, ClinGen CA384644802, ClinVar RCV003993637, Uncertain significance, Lissencephaly due to TUBA1A mutation
- V68V (p.Val68Val), gnomAD 12-49186633-T-C, CADD 8.88
- D69D (p.Asp69Asp), rs1343542417, gnomAD 12-49186630-G-A, CADD 10.80
- L70S (p.Leu70Ser), rs1565627684, ClinGen CA384644745, ClinVar RCV000767415, Ensembl rs1565627684, AlphaMissense 0.99, MetaLR 0.63, Pathogenic, Tubulinopathy
- P72R (p.Pro72Arg), rs1565627677, ClinGen CA384644679, ClinVar RCV000767499, Ensembl rs1565627677, AlphaMissense 0.97, MetaLR 0.71, Pathogenic, Tubulinopathy
- P72S (p.Pro72Ser), rs1565627680, ClinGen CA384644689, ClinVar RCV000767495, Ensembl rs1565627680, AlphaMissense 0.77, MetaLR 0.52, Pathogenic, Tubulinopathy
- T73A (p.Thr73Ala), rs1592260393, ClinGen CA384644674, cosmic curated COSV10588, ClinVar RCV000850184, AlphaMissense 0.42, MetaLR 0.33, Likely pathogenic, Lissencephaly due to TUBA1A mutation
- V74V (p.Val74Val), rs1297606410, gnomAD 12-49186615-G-A, CADD 12.70
- I75I (p.Ile75Ile), rs1942184468, gnomAD 12-49186612-A-G, CADD 10.30
- D76V (p.Asp76Val), rs2498862638, ClinGen CA384643790, ClinVar RCV003577207, Uncertain significance, not provided
- E77K (p.Glu77Lys), rs769866214, gnomAD 12-49186608-C-T, CADD 13.90, SIFT 0.05
- V78I (p.Val78Ile), gnomAD 12-49186596-C-T, CADD 10.70, SIFT 0.32
- R79C (p.Arg79Cys), rs1555162507, ClinGen CA384643745, cosmic curated COSV10880, ClinVar RCV003464069, AlphaMissense 0.95, MetaLR 0.55, Pathogenic/Likely pathogenic, not provided; Lissencephaly type 3
- R79H (p.Arg79His), rs1942181364, ClinGen CA384643741, cosmic curated COSV10515, ClinVar RCV001310649, AlphaMissense 0.13, MetaLR 0.53, Pathogenic/Likely pathogenic, not provided; Lissencephaly due to TUBA1A mutation
- T80S (p.Thr80Ser), rs2498862597, ClinGen CA384643729, ClinVar RCV002833896, Likely benign, not provided
- T80I (p.Thr80Ile), rs199717430, gnomAD 12-49186601-G-A, CADD 14.80, SIFT 0.02
- T82P (p.Thr82Pro), Ensembl rs1592260237
- T82T (p.Thr82Thr), gnomAD 12-49186591-G-T, CADD 12.00
- Y83N (p.Tyr83Asn), NCI-TCGA Cosmic COSV9985, cosmic curated COSV99853, SIFT 0.00, Variant assessed as somatic; moderate impact.
- R84H (p.Arg84His), rs1400284461, ClinGen CA384643659, NCI-TCGA Cosmic COSV5549, ClinVar RCV001265919, REVEL 0.61, MetaLR 0.34, Uncertain significance, Inborn genetic diseases
- R84L (p.Arg84Leu), cosmic curated COSV55496
- R84P (p.Arg84Pro), cosmic curated COSV10515
- R84S (p.Arg84Ser), rs2498862576, ClinGen CA384643662, ClinVar RCV003548913, Uncertain significance, not provided
- Q85* (p.Gln85Ter), Ensembl rs1555162500
- Q85H (p.Gln85His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H88N (p.His88Asn), NCI-TCGA Cosmic COSV5549, cosmic curated COSV55498, Variant assessed as somatic; moderate impact.
- H88R (p.His88Arg), cosmic curated COSV55497, MetaLR 0.40, MetaSVM -0.05
- P89R (p.Pro89Arg), rs367632910, gnomAD 12-49186475-G-C, CADD 4.74, SIFT 0.13
- P89S (p.Pro89Ser), rs572462514, gnomAD 12-49186476-G-A, CADD 2.21, SIFT 0.56
- P89P (p.Pro89Pro), gnomAD 12-49186486-G-A, CADD 0.85
- P89L (p.Pro89Leu), gnomAD 12-49186487-G-GGG, CADD 0.52
- P89H (p.Pro89His), gnomAD 12-49186502-G-T, CADD 5.37, SIFT 0.02
- P89A (p.Pro89Ala), gnomAD 12-49186509-G-C, CADD 2.05, SIFT 0.51
- p.Pro108dup, gnomAD 12-49186512-C-CGG, CADD 1.29
- E90* (p.Glu90Ter), Ensembl rs1555162495, Pathogenic
- E90G (p.Glu90Gly), rs797046072, ClinGen CA213337, ClinVar RCV000194237, ClinVar RCV000767514, AlphaMissense 0.84, MetaLR 0.61, Likely pathogenic, Lissencephaly due to TUBA1A mutation; Tubulinopathy
- E90Q (p.Glu90Gln), rs1555162495, ClinGen CA384643567, NCI-TCGA Cosmic COSV5549, cosmic curated COSV55498, AlphaMissense 0.84, MetaLR 0.42, Pathogenic, not provided
- Q91* (p.Gln91Ter), Ensembl rs1555162492
- L92V (p.Leu92Val), rs1565627548, ClinGen CA384643534, ClinVar RCV000767432, Ensembl rs1565627548, AlphaMissense 0.57, MetaLR 0.47, Pathogenic, Tubulinopathy
- L92L (p.Leu92Leu), rs1279022301, gnomAD 12-49186537-C-A, CADD 5.25
- L92R (p.Leu92Arg), rs765933305, gnomAD 12-49186538-A-C, CADD 1.35, SIFT 0.06
- T94I (p.Thr94Ile), gnomAD 12-49186565-G-A, CADD 7.97, SIFT 0.12
- T94R (p.Thr94Arg), rs2121247402, gnomAD 12-49186565-G-C, CADD 7.59, SIFT 0.07
- G95C (p.Gly95Cys), rs1555162486, ClinGen CA384643482, ClinVar RCV000623886, ClinVar RCV000767498, AlphaMissense 0.96, MetaLR 0.64, Pathogenic, Tubulinopathy; Inborn genetic diseases
- G95D (p.Gly95Asp), rs2498862501, ClinGen CA384643480, ClinVar RCV003326858, Likely pathogenic, not provided
- G95E (p.Gly95Glu), gnomAD 12-49186547-C-T, CADD 6.58, SIFT 0.08
- G95G (p.Gly95Gly), gnomAD 12-49186558-A-T, CADD 5.91
- K96N (p.Lys96Asn), 1000Genomes rs1056875, ESP rs1056875, ExAC rs1056875, TOPMed rs1056875, MetaLR 0.41, MetaSVM -0.16, Benign
- K96* (p.Lys96Ter), gnomAD 12-49186399-T-A, CADD 37.00
- E97* (p.Glu97Ter), NCI-TCGA Cosmic COSV5549, cosmic curated COSV55497, Variant assessed as somatic; high impact.
- E97G (p.Glu97Gly), NCI-TCGA Cosmic COSV9985, cosmic curated COSV99853, MetaLR 0.60, MetaSVM 0.42, Variant assessed as somatic; moderate impact.
- A99L (p.Ala99Leu), rs776188195, gnomAD 12-49186544-GC-G, CADD 0.57
- A99G (p.Ala99Gly), rs776188195, gnomAD 12-49186544-G-GC, CADD 1.06
- A99V (p.Ala99Val), gnomAD 12-49186544-G-A, CADD 1.09, SIFT 0.11
- A99S (p.Ala99Ser), gnomAD 12-49186545-C-CT, CADD 5.84
- A99T (p.Ala99Thr), rs1942183614, gnomAD 12-49186545-C-T, CADD 1.47, SIFT 0.28
- N101K (p.Asn101Lys), rs2498862449, ClinGen CA384643364, ClinVar RCV003445288, Pathogenic, Congenital bilateral perisylvian syndrome
- N101S (p.Asn101Ser), rs1565627526, ClinGen CA384643366, ClinVar RCV000767494, ClinVar RCV002290012, AlphaMissense 0.10, MetaLR 0.53, Pathogenic/Likely pathogenic, Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- N102S (p.Asn102Ser), rs765483435, gnomAD 12-49186412-T-C, CADD 12.10, SIFT 0.71
- A104V (p.Ala104Val), rs2498862422, ClinGen CA384643314, ClinVar RCV004556132, Uncertain significance, Lissencephaly due to TUBA1A mutation
- A104T (p.Ala104Thr), gnomAD 12-49186375-C-T, REVEL 0.83, MetaLR 0.65
- A104A (p.Ala104Ala), gnomAD 12-49186510-A-G, CADD 3.74
- A104R (p.Ala104Arg), gnomAD 12-49186512-C-CG, CADD 1.34
- A104P (p.Ala104Pro), rs373434518, gnomAD 12-49186512-C-G, CADD 2.01, SIFT 0.09
- R105* (p.Arg105Ter), rs1237540680, gnomAD rs1237540680, CADD 37.00, Variant assessed as somatic; high impact.
- R105G (p.Arg105Gly), gnomAD rs1237540680, REVEL 0.83, MetaLR 0.66
- R105P (p.Arg105Pro), rs747957550, gnomAD 12-49186505-C-G, CADD 0.36, SIFT 0.03
- R105H (p.Arg105His), rs747957550, gnomAD 12-49186505-C-T, CADD 0.62, SIFT 0.04
- R105C (p.Arg105Cys), rs113875951, gnomAD 12-49186506-G-A, CADD 1.08, SIFT 0.01
- G106R (p.Gly106Arg), cosmic curated COSV55497, SIFT 0.99
- H107Q (p.His107Gln), rs1565627513, ClinGen CA384643261, ClinVar RCV000681646, Ensembl rs1565627513, AlphaMissense 0.99, MetaLR 0.61, Likely pathogenic, Lissencephaly due to TUBA1A mutation
- H107R (p.His107Arg), rs1565627517, ClinGen CA384643267, ClinVar RCV000767489, Ensembl rs1565627517, AlphaMissense 0.94, MetaLR 0.50, Pathogenic, Tubulinopathy
- H107Y (p.His107Tyr), NCI-TCGA TCGA novel, SIFT 0.25, Variant assessed as somatic; moderate impact.
Public TUBA1A analysis runs
- TUBA1A analysis run — TUBA1A (731 variants) — completed 2026-06-13