ITGA2B (Integrin alpha-IIb) variants and mutations
ITGA2B (also known as Integrin alpha-IIb) is a human protein-coding gene encoding an integrin alpha-IIb protein. Together with ITGB3, it forms the major platelet fibrinogen receptor that becomes activated during platelet stimulation and drives aggregation. Biallelic loss-of-function variants cause Glanzmann thrombasthenia, a severe inherited platelet-aggregation disorder. This analysis covers 1,569 ITGA2B variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes Glanzmann thrombasthenia 1, Glanzmann thrombasthenia, and autosomal dominant macrothrombocytopenia. Example ITGA2B variants include M1?, A2D, and R3G.
Variant analysis overview
- Gene: ITGA2B
- Protein: Integrin alpha-IIb
- UniProt accession: P08514
- Organism: Homo sapiens
- Variants analyzed: 1569
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,334 unspecified-consequence records; 1 stop lost; 73 synonymous variants; 120 missense variants; 6 in-frame deletions; 24 frameshift variants; 3 splice-region variants; 7 stop-gained variants; 1 in-frame insertions
- Prediction scores: 1,274 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Glanzmann thrombasthenia 1, Glanzmann thrombasthenia, autosomal dominant macrothrombocytopenia, cancer, myocardial infarction, acute coronary syndrome, Noonan syndrome, hypertrophic cardiomyopathy, Costello syndrome, Recurrent thrombophlebitis, Thrombocytopenia, intermediate coronary syndrome.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 20 binding sites; 8 post-translational modification sites.
- Structural context: 62 variants have structural context.
- 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, ClinGen, MaveDB, LitVar.
Notable ITGA2B variants
Examples include M1?, A2D, R3G, R3K, R3S, A4S, A4T, C6Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A2D (p.Ala2Asp), gnomAD rs1433509006, REVEL 0.60, MetaLR 0.76
- R3G (p.Arg3Gly), Ensembl rs2048679968, REVEL 0.35, MetaLR 0.62
- R3K (p.Arg3Lys), ExAC rs773301639, gnomAD rs773301639, REVEL 0.37, MetaLR 0.69
- R3S (p.Arg3Ser), ExAC rs772062991, gnomAD rs772062991
- A4S (p.Ala4Ser), rs537367984, NCI-TCGA Cosmic COSV9905, ExAC rs537367984, TOPMed rs537367984, REVEL 0.28, MetaLR 0.65, Uncertain significance
- A4T (p.Ala4Thr), rs537367984, ClinVar RCV004577689, ExAC rs537367984, TOPMed rs537367984, REVEL 0.23, MetaLR 0.67, Uncertain significance, Glanzmann thrombasthenia
- C6Y (p.Cys6Tyr), ExAC rs769136077, TOPMed rs769136077, gnomAD rs769136077, REVEL 0.19, MetaLR 0.65
- P7S (p.Pro7Ser), NCI-TCGA TCGA novel, MetaLR 0.61, MetaSVM -0.41, Variant assessed as somatic; moderate impact.
- P7T (p.Pro7Thr), gnomAD rs2048679771, REVEL 0.14, MetaLR 0.62
- L8P (p.Leu8Pro), TOPMed rs1415511148, gnomAD rs1415511148, REVEL 0.24, MetaLR 0.68
- Q9* (p.Gln9Ter), TOPMed rs936234094, gnomAD rs936234094, CADD 32.00
- A10D (p.Ala10Asp), ExAC rs749730990, TOPMed rs749730990, gnomAD rs749730990
- A10G (p.Ala10Gly), ExAC rs749730990, TOPMed rs749730990, gnomAD rs749730990, MetaLR 0.63, MetaSVM -0.33
- A10V (p.Ala10Val), rs749730990, ExAC rs749730990, TOPMed rs749730990, gnomAD rs749730990, REVEL 0.24, MetaLR 0.69, Variant assessed as somatic; moderate impact.
- L11I (p.Leu11Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L11P (p.Leu11Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L13F (p.Leu13Phe), ExAC rs780972212, gnomAD rs780972212, REVEL 0.18, MetaLR 0.59
- E15A (p.Glu15Ala), TOPMed rs1370091110, MetaLR 0.59, MetaSVM -0.34
- E15K (p.Glu15Lys), rs779592785, ClinGen CA8603557, NCI-TCGA Cosmic COSV5223, ClinVar RCV001128305, REVEL 0.37, MetaLR 0.64, Uncertain significance, Glanzmann thrombasthenia
- W16* (p.Trp16Ter), rs2143507207, ClinGen CA399807046, ClinVar RCV002511531, AlphaMissense 0.18, MetaLR 0.62, Likely pathogenic
- W16C (p.Trp16Cys), Ensembl rs2143507207, MetaLR 0.69, MetaSVM 0.40
- W16S (p.Trp16Ser), TOPMed rs755624202, gnomAD rs755624202, REVEL 0.41, MetaLR 0.67
- V17E (p.Val17Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V17M (p.Val17Met), TOPMed rs1285991850, REVEL 0.18, MetaLR 0.58, Uncertain significance, Glanzmann thrombasthenia
- L19R (p.Leu19Arg), Ensembl rs2143507142
- L19V (p.Leu19Val), Ensembl rs2143507158
- L20F (p.Leu20Phe), rs777290147, ExAC rs777290147, TOPMed rs777290147, gnomAD rs777290147, REVEL 0.23, MetaLR 0.59, Variant assessed as somatic; moderate impact.
- L20P (p.Leu20Pro), TOPMed rs2048679372
- L20R (p.Leu20Arg), rs2048679372, ClinGen CA399807023, ClinVar RCV002281028, ClinVar RCV002511150, AlphaMissense 0.08, MetaLR 0.85, Likely pathogenic, Glanzmann thrombasthenia
- L21V (p.Leu21Val), ExAC rs757861227, gnomAD rs757861227, REVEL 0.39, MetaLR 0.71
- L21W (p.Leu21Trp), gnomAD rs1213310591, REVEL 0.39, MetaLR 0.71
- P23H (p.Pro23His), rs201184269, ClinGen CA399807006, ClinVar RCV001290466, 1000Genomes rs201184269, AlphaMissense 0.11, MetaLR 0.82, Uncertain significance, Glanzmann thrombasthenia
- P23L (p.Pro23Leu), 1000Genomes rs201184269, ExAC rs201184269, TOPMed rs201184269, gnomAD rs201184269, REVEL 0.35, AlphaMissense 0.11, Uncertain significance
- P23R (p.Pro23Arg), rs201184269, ClinGen CA399807007, ClinVar RCV004550680, 1000Genomes rs201184269, AlphaMissense 0.11, MetaLR 0.82, Uncertain significance, ITGA2B-related disorder
- C24R (p.Cys24Arg), ExAC rs765144213, gnomAD rs765144213, REVEL 0.14, MetaLR 0.43
- C24Y (p.Cys24Tyr), ExAC rs754744441, TOPMed rs754744441, gnomAD rs754744441, REVEL 0.17, MetaLR 0.43
- A25P (p.Ala25Pro), gnomAD rs1353981237
- A25V (p.Ala25Val), ExAC rs753672121, gnomAD rs753672121, REVEL 0.17, MetaLR 0.61
- P28T (p.Pro28Thr), Ensembl rs1015042585, REVEL 0.20, MetaLR 0.64
- A29P (p.Ala29Pro), ExAC rs766193715, TOPMed rs766193715, gnomAD rs766193715, REVEL 0.55, MetaLR 0.67
- A29T (p.Ala29Thr), NCI-TCGA Cosmic COSV5223, Variant assessed as somatic; moderate impact.
- A29V (p.Ala29Val), rs760833641, ClinGen CA8603548, ClinVar RCV002980842, ClinVar RCV006612784, REVEL 0.20, MetaLR 0.51, Uncertain significance, Inborn genetic diseases; Glanzmann thrombasthenia
- W30* (p.Trp30Ter), gnomAD rs1418627739, CADD 36.00, Likely pathogenic
- W30G (p.Trp30Gly), TOPMed rs2048679004, MetaLR 0.55, MetaSVM -0.28
- W30S (p.Trp30Ser), gnomAD rs1131692013, REVEL 0.66, MetaLR 0.65, Likely pathogenic
- A31T (p.Ala31Thr), rs1005880342, ClinGen CA290958506, ClinVar RCV003879605, Ensembl rs1005880342, REVEL 0.68, MetaLR 0.82, Uncertain significance, Glanzmann thrombasthenia
- L32F (p.Leu32Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N33D (p.Asn33Asp), rs2510088109, ClinGen CA399806951, ClinVar RCV002511566, Pathogenic, Glanzmann thrombasthenia
- N33S (p.Asn33Ser), ExAC rs773316703, gnomAD rs773316703, REVEL 0.76, MetaLR 0.85
- L34M (p.Leu34Met), ExAC rs767563149, gnomAD rs767563149, REVEL 0.59, MetaLR 0.80, Uncertain significance, Glanzmann thrombasthenia
- L34Q (p.Leu34Gln), TOPMed rs2048678755, MetaLR 0.84, MetaSVM 0.88
- D35G (p.Asp35Gly), 1000Genomes rs549088938, ExAC rs549088938, gnomAD rs549088938, REVEL 0.74, MetaLR 0.82
- D35H (p.Asp35His), ExAC rs761862810, gnomAD rs761862810, REVEL 0.64, MetaLR 0.62
- P36Q (p.Pro36Gln), gnomAD rs1259889853, REVEL 0.33, MetaLR 0.46
- Q38R (p.Gln38Arg), TOPMed rs2048678620, Pathogenic
- L39F (p.Leu39Phe), ExAC rs775961648, gnomAD rs775961648, REVEL 0.14, MetaLR 0.34
- T40A (p.Thr40Ala), rs77120952, ClinGen CA8603540, ClinVar RCV001752051, ClinVar RCV002539921, REVEL 0.23, MetaLR 0.41, Uncertain significance, Glanzmann thrombasthenia
- T40I (p.Thr40Ile), rs5915, UniProt VAR 014176, 1000Genomes rs5915, ESP rs5915, REVEL 0.42, MetaLR 0.76, Uncertain significance, Glanzmann thrombasthenia
- F41I (p.Phe41Ile), TOPMed rs2048678390, gnomAD rs2048678390, REVEL 0.19, MetaLR 0.23
- F41L (p.Phe41Leu), TOPMed rs2048678390, gnomAD rs2048678390, REVEL 0.22, MetaLR 0.21
- F41S (p.Phe41Ser), TOPMed rs2048678361, gnomAD rs2048678361, REVEL 0.28, MetaLR 0.32
- A43V (p.Ala43Val), rs559994522, ClinGen CA8603537, ClinVar RCV004548927, 1000Genomes rs559994522, REVEL 0.31, MetaLR 0.35, Uncertain significance, ITGA2B-related disorder
- G44V (p.Gly44Val), rs2048678209, ClinGen CA399806881, ClinVar RCV001225268, Ensembl rs2048678209, AlphaMissense 0.58, MetaLR 0.86, Pathogenic, Glanzmann thrombasthenia
- P45H (p.Pro45His), NCI-TCGA Cosmic COSV5223, MetaLR 0.83, MetaSVM 0.83, Variant assessed as somatic; moderate impact.
- P45S (p.Pro45Ser), ExAC rs778789586, TOPMed rs778789586, gnomAD rs778789586, REVEL 0.47, MetaLR 0.59
- N46K (p.Asn46Lys), ExAC rs753794676, gnomAD rs753794676, REVEL 0.40, MetaLR 0.49
- N46S (p.Asn46Ser), rs754869105, ClinGen CA8603534, ClinVar RCV002684294, ClinVar RCV005099055, REVEL 0.21, MetaLR 0.36, Uncertain significance, Inborn genetic diseases; Glanzmann thrombasthenia
- G47D (p.Gly47Asp), ESP rs376817155, ExAC rs376817155, TOPMed rs376817155, gnomAD rs376817155, REVEL 0.42, MetaLR 0.56
- Q49* (p.Gln49Ter), ExAC rs755904345, gnomAD rs755904345, CADD 34.00
- Q49H (p.Gln49His), Ensembl rs2143506404
- Q49L (p.Gln49Leu), rs1598385177, ClinGen CA399806849, ClinVar RCV003606730, REVEL 0.34, MetaLR 0.27, Uncertain significance, Glanzmann thrombasthenia
- Q49P (p.Gln49Pro), Ensembl rs1598385177
- G51E (p.Gly51Glu), Ensembl rs769397678
- S53L (p.Ser53Leu), gnomAD rs2048677906, REVEL 0.65, MetaLR 0.80
- F56C (p.Phe56Cys), TOPMed rs901643372, REVEL 0.85, MetaLR 0.86
- H57Q (p.His57Gln), Ensembl rs2048677834, MetaLR 0.61, MetaSVM -0.03
- D59G (p.Asp59Gly), rs2143506303, ClinGen CA399806780, ClinVar RCV002267592, ClinVar RCV003333803, REVEL 0.33, MetaLR 0.35, Uncertain significance, Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1
- D59H (p.Asp59His), NCI-TCGA Cosmic COSV9928, Variant assessed as somatic; moderate impact.
- H61Q (p.His61Gln), Ensembl rs1598385165, MetaLR 0.04, MetaSVM -0.98
- G62E (p.Gly62Glu), rs2143506283, ClinGen CA399806756, ClinVar RCV001762776, Ensembl rs2143506283, AlphaMissense 0.17, MetaLR 0.43, Uncertain significance, not provided
- R63K (p.Arg63Lys), rs767688038, ClinGen CA8603528, ClinVar RCV002254825, ExAC rs767688038, REVEL 0.09, MetaLR 0.22, Likely pathogenic, Glanzmann thrombasthenia
- A65T (p.Ala65Thr), NCI-TCGA TCGA novel, REVEL 0.12, MetaLR 0.21, Variant assessed as somatic; moderate impact.
- A65V (p.Ala65Val), rs1009231553, Ensembl rs1009231553, REVEL 0.14, MetaLR 0.17, Variant assessed as somatic; moderate impact.
- I66T (p.Ile66Thr), TOPMed rs2048647315, MetaLR 0.64, MetaSVM 0.34
- V67A (p.Val67Ala), TOPMed rs1160717973, gnomAD rs1160717973, REVEL 0.76, MetaLR 0.81
- V67E (p.Val67Glu), TOPMed rs1160717973, gnomAD rs1160717973, REVEL 0.84, MetaLR 0.81
- V67M (p.Val67Met), rs2510085573, ClinGen CA399806525, ClinVar RCV003093236, REVEL 0.59, MetaLR 0.82, Uncertain significance, Glanzmann thrombasthenia
- V68M (p.Val68Met), rs2048647163, ClinGen CA399806517, ClinVar RCV001225234, Ensembl rs2048647163, REVEL 0.74, MetaLR 0.82, Uncertain significance, Glanzmann thrombasthenia
- G69D (p.Gly69Asp), Ensembl rs2048647129
- G69S (p.Gly69Ser), rs2510085563, ClinGen CA399806513, ClinVar RCV002281027, Uncertain significance, Glanzmann thrombasthenia 1
- A70V (p.Ala70Val), rs2510085551, ClinGen CA399806504, ClinVar RCV003870546, REVEL 0.80, MetaLR 0.88, Uncertain significance, Glanzmann thrombasthenia
- P71R (p.Pro71Arg), rs2510085546, ClinGen CA399806497, ClinVar RCV003234996, Likely pathogenic, Glanzmann thrombasthenia
- R72G (p.Arg72Gly), gnomAD rs1174805526, REVEL 0.49, MetaLR 0.51
- R72Q (p.Arg72Gln), TOPMed rs1435480247, gnomAD rs1435480247, REVEL 0.18, MetaLR 0.47
- R72W (p.Arg72Trp), gnomAD rs1174805526, REVEL 0.40, MetaLR 0.72, Uncertain significance, Glanzmann thrombasthenia
- T73I (p.Thr73Ile), gnomAD rs1260273450, REVEL 0.34, MetaLR 0.73
- G75S (p.Gly75Ser), gnomAD rs1486414522
- P76S (p.Pro76Ser), Ensembl rs2143491746, MetaLR 0.29, MetaSVM -0.88
- S77N (p.Ser77Asn), rs886053010, ClinGen CA10639820, ClinVar RCV000270766, Ensembl rs886053010, REVEL 0.15, MetaLR 0.22, Uncertain significance, Glanzmann thrombasthenia
- E79D (p.Glu79Asp), Ensembl rs1434720400, REVEL 0.16, MetaLR 0.46
- E79G (p.Glu79Gly), gnomAD rs1242289533, MetaLR 0.44, MetaSVM -0.53
- E80* (p.Glu80Ter), gnomAD rs1218397524
- T81M (p.Thr81Met), gnomAD rs1279072853, REVEL 0.27, MetaLR 0.41
- G82D (p.Gly82Asp), gnomAD rs1281597026, REVEL 0.80, MetaLR 0.89
- G83D (p.Gly83Asp), rs2048646352, ClinGen CA399806421, ClinVar RCV002574500, ClinVar RCV002581708, REVEL 0.68, MetaLR 0.70, Uncertain significance, Glanzmann thrombasthenia; Inborn genetic diseases
- F85L (p.Phe85Leu), NCI-TCGA Cosmic COSV5223, REVEL 0.65, MetaLR 0.80, Variant assessed as somatic; moderate impact.
- L86P (p.Leu86Pro), rs1052533574, ClinGen CA290956162, ClinVar RCV001225273, ClinVar RCV004782674, REVEL 0.86, MetaLR 0.74, Pathogenic, Glanzmann thrombasthenia
- C87* (p.Cys87Ter), Ensembl rs905132226
- P88A (p.Pro88Ala), gnomAD rs2048646178, REVEL 0.71, MetaLR 0.81
- W89* (p.Trp89Ter), rs2048646082, ClinGen CA399806384, ClinVar RCV001290479, ClinVar RCV002254212, Pathogenic
- W89R (p.Trp89Arg), Ensembl rs2143491399, MetaLR 0.85, MetaSVM 0.89
- R90K (p.Arg90Lys), ExAC rs751857224, TOPMed rs751857224, gnomAD rs751857224, REVEL 0.24, MetaLR 0.17
- A91T (p.Ala91Thr), gnomAD rs1362431939, REVEL 0.03, MetaLR 0.16
- A91V (p.Ala91Val), ExAC rs764211480, gnomAD rs764211480, REVEL 0.22, MetaLR 0.30
- E92* (p.Glu92Ter), NCI-TCGA Cosmic COSV5223, Variant assessed as somatic; high impact.
- E92G (p.Glu92Gly), ExAC rs763130236, gnomAD rs763130236, REVEL 0.13, MetaLR 0.42
- E92K (p.Glu92Lys), NCI-TCGA Cosmic COSV5223, Ensembl rs2143491299, REVEL 0.16, MetaLR 0.32, Uncertain significance, Glanzmann thrombasthenia
- G93D (p.Gly93Asp), TOPMed rs1046721325, gnomAD rs1046721325, REVEL 0.32, MetaLR 0.65, Uncertain significance, Inborn genetic diseases
- Q95H (p.Gln95His), TOPMed rs1170385270, gnomAD rs1170385270, REVEL 0.25, MetaLR 0.43, Uncertain significance, Inborn genetic diseases
- Q95R (p.Gln95Arg), ESP rs201860267, ExAC rs201860267, TOPMed rs201860267, gnomAD rs201860267, REVEL 0.21, MetaLR 0.37
- C96S (p.Cys96Ser), rs765904826, ClinGen CA8603504, ClinVar RCV003459892, ExAC rs765904826, REVEL 0.80, MetaLR 0.88, Uncertain significance, Glanzmann thrombasthenia
- P97H (p.Pro97His), Ensembl rs2048645751, MetaLR 0.23, MetaSVM -0.89
- R104G (p.Arg104Gly), ExAC rs759912238, gnomAD rs759912238, REVEL 0.22, MetaLR 0.38
- E106D (p.Glu106Asp), rs2510085264, ClinGen CA399806261, ClinVar RCV002839082, Uncertain significance, Glanzmann thrombasthenia
- E106K (p.Glu106Lys), rs775401384, ClinGen CA8603487, ClinVar RCV003501623, ClinVar RCV003992776, REVEL 0.29, MetaLR 0.47, Uncertain significance, Glanzmann thrombasthenia 1; Glanzmann thrombasthenia
- R108* (p.Arg108Ter), NCI-TCGA Cosmic COSV9928, CADD 34.00, Variant assessed as somatic; high impact.
- R108Q (p.Arg108Gln), gnomAD rs1425022869, REVEL 0.18, MetaLR 0.46
- V110L (p.Val110Leu), Ensembl rs62081211
- G111S (p.Gly111Ser), Ensembl rs2048644469
- G111V (p.Gly111Val), TOPMed rs1378357391, gnomAD rs1378357391, REVEL 0.39, MetaLR 0.67
- S112F (p.Ser112Phe), ExAC rs759911076, gnomAD rs759911076, REVEL 0.17, MetaLR 0.33
- Q113* (p.Gln113Ter), rs2510085242, ClinGen CA399806223, ClinVar RCV002281026, ClinVar RCV002511149, Pathogenic
- Q113H (p.Gln113His), 1000Genomes rs570618729, ExAC rs570618729, gnomAD rs570618729, REVEL 0.18, MetaLR 0.35
- T114I (p.Thr114Ile), Ensembl rs2048644314, REVEL 0.16, MetaLR 0.50
- T114P (p.Thr114Pro), NCI-TCGA Cosmic COSV5223, Variant assessed as somatic; moderate impact.
- Q116K (p.Gln116Lys), Ensembl rs2048644287, REVEL 0.14, MetaLR 0.33
- T117I (p.Thr117Ile), gnomAD rs1211543769, MetaLR 0.46, MetaSVM -0.55
- F118L (p.Phe118Leu), ExAC rs761165048, TOPMed rs761165048, gnomAD rs761165048, REVEL 0.59, MetaLR 0.59
- K119E (p.Lys119Glu), rs2048644153, ClinGen CA399806182, ClinVar RCV004405580, AlphaMissense 0.47, MetaLR 0.81, Uncertain significance, Inborn genetic diseases
- K119Q (p.Lys119Gln), TOPMed rs2048644153, gnomAD rs2048644153, REVEL 0.59, AlphaMissense 0.47
- A120G (p.Ala120Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A120V (p.Ala120Val), gnomAD rs1247307682, MetaLR 0.49, MetaSVM -0.10
- R121C (p.Arg121Cys), rs2510085210, ClinGen CA399806167, ClinVar RCV003606595, REVEL 0.40, MetaLR 0.39, Uncertain significance, Glanzmann thrombasthenia
- R121H (p.Arg121His), gnomAD rs866742833, REVEL 0.23, MetaLR 0.26, Uncertain significance, ITGA2B-related disorder
- G123R (p.Gly123Arg), TOPMed rs1306457655, gnomAD rs1306457655
- L124M (p.Leu124Met), NCI-TCGA Cosmic COSV5223, Variant assessed as somatic; moderate impact.
- G125R (p.Gly125Arg), gnomAD rs1379677986, REVEL 0.89, MetaLR 0.84
- A126E (p.Ala126Glu), gnomAD rs2048643896, REVEL 0.80, MetaLR 0.67
- A126S (p.Ala126Ser), TOPMed rs1324511576, gnomAD rs1324511576, REVEL 0.71, MetaLR 0.60
- S127A (p.Ser127Ala), ESP rs372626913
- S127L (p.Ser127Leu), TOPMed rs2048643792, MetaLR 0.39, MetaSVM -0.30
- V129I (p.Val129Ile), TOPMed rs1351877826, REVEL 0.16, MetaLR 0.25
- S130N (p.Ser130Asn), TOPMed rs1456578086, MetaLR 0.31, MetaSVM -0.28, Uncertain significance, Inborn genetic diseases
- D133E (p.Asp133Glu), rs2510085154, ClinGen CA399806084, ClinVar RCV003234998, REVEL 0.29, MetaLR 0.51, Pathogenic, Glanzmann thrombasthenia
- D133Y (p.Asp133Tyr), TOPMed rs1293367682
- V134I (p.Val134Ile), ESP rs370013826, ExAC rs370013826, TOPMed rs370013826, gnomAD rs370013826, REVEL 0.22, MetaLR 0.34
- V136L (p.Val136Leu), gnomAD rs1395743817, REVEL 0.23, MetaLR 0.16
- A137G (p.Ala137Gly), ExAC rs750825065, gnomAD rs750825065, REVEL 0.71, MetaLR 0.60
- A137T (p.Ala137Thr), TOPMed rs1046319092, gnomAD rs1046319092, REVEL 0.71, MetaLR 0.57
- C138* (p.Cys138Ter), rs2048642260, ClinGen CA399806043, ClinVar RCV001059843, Ensembl rs2048642260, CADD 35.00, Likely pathogenic
- C138G (p.Cys138Gly), NCI-TCGA TCGA novel, MetaLR 0.89, MetaSVM 0.80, Variant assessed as somatic; moderate impact.
- A139P (p.Ala139Pro), TOPMed rs1318135933, gnomAD rs1318135933, REVEL 0.80, MetaLR 0.64
- A139V (p.Ala139Val), rs2143489510, ClinGen CA399806036, ClinVar RCV001580238, UniProt VAR 030446, AlphaMissense 0.72, MetaLR 0.66, Likely pathogenic, Glanzmann thrombasthenia
- P140R (p.Pro140Arg), gnomAD rs1326259084, REVEL 0.93, MetaLR 0.86
- W141C (p.Trp141Cys), rs2143489430, ClinGen CA399806022, ClinVar RCV002254819, Ensembl rs2143489430, AlphaMissense 0.88, MetaLR 0.70, Likely pathogenic, Glanzmann thrombasthenia
- W141G (p.Trp141Gly), 1000Genomes rs559891307, ExAC rs559891307, TOPMed rs559891307, gnomAD rs559891307, REVEL 0.62, MetaLR 0.65
- H143P (p.His143Pro), gnomAD rs200006464, REVEL 0.83, MetaLR 0.75
- H143Y (p.His143Tyr), gnomAD rs1361881161
- W144* (p.Trp144Ter), rs2143489377, ClinGen CA399805999, ClinVar RCV001803423, Ensembl rs2143489377, CADD 38.00, Pathogenic
- N145K (p.Asn145Lys), rs1433566887, gnomAD rs1433566887, ClinGen CA399805991, ClinVar RCV001290501, REVEL 0.49, MetaLR 0.68, Uncertain significance, Glanzmann thrombasthenia
- L147V (p.Leu147Val), rs76066357, ClinGen CA351291, ClinVar RCV000244527, ClinVar RCV000860829, REVEL 0.05, MetaLR 0.17, Benign, Glanzmann thrombasthenia
- E148D (p.Glu148Asp), rs2048641862, ClinGen CA399805973, ClinVar RCV003825649, REVEL 0.11, MetaLR 0.51, Uncertain significance, Glanzmann thrombasthenia
- K149E (p.Lys149Glu), ExAC rs775222286, gnomAD rs775222286, REVEL 0.05, MetaLR 0.20
- K149N (p.Lys149Asn), TOPMed rs2048641804, REVEL 0.04, MetaLR 0.17
- T150A (p.Thr150Ala), gnomAD rs1474292593, REVEL 0.12, MetaLR 0.34
- T150N (p.Thr150Asn), NCI-TCGA Cosmic COSV9928, MetaLR 0.33, MetaSVM -0.87, Variant assessed as somatic; moderate impact.
- E152G (p.Glu152Gly), gnomAD rs1372331896, REVEL 0.41, MetaLR 0.68
- E152K (p.Glu152Lys), rs2510084904, ClinGen CA399805950, ClinVar RCV003606206, REVEL 0.41, MetaLR 0.77, Uncertain significance, Glanzmann thrombasthenia
- A153T (p.Ala153Thr), rs199641871, ClinGen CA8603459, ClinVar RCV000784902, ClinVar RCV002535708, REVEL 0.46, MetaLR 0.71, Uncertain significance, Glanzmann thrombasthenia
Public ITGA2B analysis runs
- ITGA2B analysis run — ITGA2B (1,569 variants) — completed 2026-08-19