STAT3 (P40763) variants and mutations
STAT3 (also known as P40763) is a human protein-coding gene encoding a signal transducer and activator of transcription 3 protein. It translates cytokine and growth-factor signals into transcriptional programs governing immune regulation, survival, proliferation, and tissue repair. Dominant-negative variants cause hyper-IgE syndrome, while activating germline variants cause early autoimmunity and lymphoproliferation and somatic activation contributes to cancer. This analysis covers 1,620 STAT3 variants and mutations. Of these, 36% have computational variant effect predictions. Disease context includes Autosomal dominant hyper-IgE syndrome, autoimmune disease, and hyper-IgE recurrent infection syndrome 1, autosomal dominant. Example STAT3 variants include A2S, A2T, and A2V.
Variant analysis overview
- Gene: STAT3
- Protein: P40763
- UniProt accession: P40763
- Organism: Homo sapiens
- Variants analyzed: 1620
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,479 unspecified-consequence records; 1 stop retained variant; 93 synonymous variants; 33 missense variants; 2 frameshift variants; 2 stop lost; 5 splice-region variants; 2 in-frame insertions; 1 in-frame deletions; 2 substitution
- Prediction scores: 578 variants have prediction scores (36% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Autosomal dominant hyper-IgE syndrome, autoimmune disease, hyper-IgE recurrent infection syndrome 1, autosomal dominant, hyper-IgE syndrome, hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, cancer, STAT3 gain of function, Crohn disease, diffuse large B-cell lymphoma, neurodegenerative disease, leukemia, immunodeficiency disease.
Protein structure and variant hotspots
- Protein features: 1 domains; 18 post-translational modification sites.
- Structural context: 426 variants have structural context.
- PTM context: 34 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 STAT3 variants
Examples include A2S, A2T, A2V, Q3H, W4*, N5S, N5Y, Q6E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2S (p.Ala2Ser), Ensembl rs2145014661
- A2T (p.Ala2Thr), Ensembl rs2145014661
- A2V (p.Ala2Val), cosmic curated COSV10635, Ensembl rs2145014630
- Q3H (p.Gln3His), ExAC rs749859511, TOPMed rs749859511, gnomAD rs749859511, Likely benign
- W4* (p.Trp4Ter), cosmic curated COSV52889
- N5S (p.Asn5Ser), rs1041081083, ClinGen CA290747772, ClinVar RCV002628146, ClinVar RCV004790380, REVEL 0.17, CADD 23.40, Conflicting interpretations, not provided; STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1
- N5Y (p.Asn5Tyr), gnomAD rs1386600261, REVEL 0.19, CADD 23.50
- Q6E (p.Gln6Glu), cosmic curated COSV52895
- Q8* (p.Gln8Ter), Ensembl rs2145014452
- Q9* (p.Gln9Ter), Ensembl rs2145014427
- L10F (p.Leu10Phe), Ensembl rs2145014369
- L10V (p.Leu10Val), NCI-TCGA Cosmic COSV9923, cosmic curated COSV99233, Variant assessed as somatic; moderate impact.
- R13Q (p.Arg13Gln), rs780720013, ClinGen CA8575728, cosmic curated COSV10959, ClinVar RCV000707027, REVEL 0.20, CADD 24.90, Conflicting interpretations, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- R13W (p.Arg13Trp), cosmic curated COSV52885, Ensembl rs2145014281, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- E16V (p.Glu16Val), Ensembl rs2145014169
- Q17* (p.Gln17Ter), Ensembl rs2145014094
- L18F (p.Leu18Phe), Ensembl rs2145014041
- L18H (p.Leu18His), cosmic curated COSV10439
- L18V (p.Leu18Val), cosmic curated COSV99232
- L21V (p.Leu21Val), rs1462777520, gnomAD rs1462777520, REVEL 0.35, CADD 24.60, Variant assessed as somatic; moderate impact.
- Y22C (p.Tyr22Cys), TOPMed rs2082794290
- Y22H (p.Tyr22His), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52886, Variant assessed as somatic; moderate impact.
- S23G (p.Ser23Gly), Ensembl rs2082794054
- D24G (p.Asp24Gly), Ensembl rs2145013794
- D24N (p.Asp24Asn), rs751281347, ClinGen CA8575726, ClinVar RCV000813071, ExAC rs751281347, REVEL 0.29, CADD 27.70, Likely benign, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- S25N (p.Ser25Asn), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52883, Variant assessed as somatic; moderate impact.
- P27L (p.Pro27Leu), TOPMed rs2082793635
- P27S (p.Pro27Ser), cosmic curated COSV52886, Ensembl rs2145013731
- M28I (p.Met28Ile), cosmic curated COSV52888, cosmic curated COSV10635
- M28K (p.Met28Lys), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52885, Variant assessed as somatic; moderate impact.
- M28V (p.Met28Val), rs2145013673, ClinGen CA399597721, cosmic curated COSV52892, ClinVar RCV001772469, REVEL 0.43, CADD 25.20, Conflicting interpretations, not provided; STAT3-related disorder
- E29K (p.Glu29Lys), Ensembl rs2145013638
- R31Q (p.Arg31Gln), rs2509544144, ClinGen CA399597686, ClinVar RCV003802314, REVEL 0.86, CADD 27.60, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- R31W (p.Arg31Trp), cosmic curated COSV52889, Ensembl rs2145013579
- Q32K (p.Gln32Lys), rs1803125, UniProt VAR 018683, Ensembl rs1803125, AlphaMissense 0.95, MetaLR 0.33
- F33I (p.Phe33Ile), NCI-TCGA Cosmic COSV5289, NCI-TCGA Cosmic COSV9923, cosmic curated COSV99232, Variant assessed as somatic; moderate impact.
- F33L (p.Phe33Leu), cosmic curated COSV52894
- F33V (p.Phe33Val), gnomAD rs1340218209, REVEL 0.28, CADD 25.10
- A35P (p.Ala35Pro), TOPMed rs748204289, Uncertain significance
- A35S (p.Ala35Ser), rs748204289, ClinGen CA290747730, ClinVar RCV000814155, TOPMed rs748204289, REVEL 0.38, CADD 23.70, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- A35T (p.Ala35Thr), TOPMed rs748204289, Uncertain significance
- A35V (p.Ala35Val), cosmic curated COSV52886, Ensembl rs2145013380
- P36S (p.Pro36Ser), Ensembl rs1292306960
- P36T (p.Pro36Thr), cosmic curated COSV10728
- W37* (p.Trp37Ter), cosmic curated COSV10586
- S40R (p.Ser40Arg), TOPMed rs2082792963
- A44T (p.Ala44Thr), cosmic curated COSV52884
- Y45* (p.Tyr45Ter), 1000Genomes rs766994331, ExAC rs766994331, TOPMed rs766994331, gnomAD rs766994331, CADD 35.00
- Y45C (p.Tyr45Cys), cosmic curated COSV52889
- Y45F (p.Tyr45Phe), cosmic curated COSV10509
- A46V (p.Ala46Val), cosmic curated COSV52885, Ensembl rs868859792, REVEL 0.18, CADD 24.90
- A47T (p.Ala47Thr), NCI-TCGA TCGA novel, Ensembl rs2144992861, Variant assessed as somatic; moderate impact.
- A47V (p.Ala47Val), Ensembl rs2144992828, REVEL 0.34, CADD 26.00
- S48I (p.Ser48Ile), ExAC rs766875947, TOPMed rs766875947, gnomAD rs766875947, REVEL 0.10, CADD 22.50, Likely benign, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- S48N (p.Ser48Asn), ExAC rs766875947, TOPMed rs766875947, gnomAD rs766875947, REVEL 0.12, CADD 17.50
- E50* (p.Glu50Ter), NCI-TCGA Cosmic COSV9923, cosmic curated COSV99232, Variant assessed as somatic; high impact.
- A53G (p.Ala53Gly), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52885, Variant assessed as somatic; moderate impact.
- A53T (p.Ala53Thr), Ensembl rs2144992693
- L55F (p.Leu55Phe), Ensembl rs2144992619
- L55V (p.Leu55Val), cosmic curated COSV52893
- V56A (p.Val56Ala), rs972597428, []
- H58Q (p.His58Gln), cosmic curated COSV10509
- H58Y (p.His58Tyr), cosmic curated COSV52884, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- E63* (p.Glu63Ter), Ensembl rs2144992453
- E63D (p.Glu63Asp), cosmic curated COSV52884
- I64T (p.Ile64Thr), rs2509529713, ClinGen CA399597030, ClinVar RCV003782966, ClinVar RCV004790602, REVEL 0.43, CADD 27.20, Uncertain significance, not provided; Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT
- D65E (p.Asp65Glu), rs2144992389, ClinGen CA399597018, ClinVar RCV001365625, Ensembl rs2144992389, AlphaMissense 0.97, MetaLR 0.21, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- D65G (p.Asp65Gly), cosmic curated COSV10959, ExAC rs775122881, gnomAD rs775122881
- D65V (p.Asp65Val), ExAC rs775122881, gnomAD rs775122881
- Q66E (p.Gln66Glu), ESP rs375760579, REVEL 0.21, CADD 22.40
- Q67* (p.Gln67Ter), Ensembl rs2144992329
- Y68H (p.Tyr68His), TOPMed rs1187104418, gnomAD rs1187104418, REVEL 0.26, CADD 24.30
- S69I (p.Ser69Ile), Ensembl rs2082710859
- R70C (p.Arg70Cys), rs2144992202, ClinGen CA399596967, cosmic curated COSV10727, ClinVar RCV003787164, REVEL 0.63, CADD 32.00, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- R70H (p.Arg70His), rs2144992163, ClinGen CA399596964, ClinVar RCV001910614, Ensembl rs2144992163, REVEL 0.35, CADD 28.70, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- R70L (p.Arg70Leu), Ensembl rs2144992163, Uncertain significance, in ADMIO1
- E74* (p.Glu74Ter), cosmic curated COSV52890
- E74D (p.Glu74Asp), cosmic curated COSV10458
- L78F (p.Leu78Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L78R (p.Leu78Arg), cosmic curated COSV52894
- Y79C (p.Tyr79Cys), gnomAD rs1281834571, REVEL 0.25, CADD 27.50
- Q80* (p.Gln80Ter), cosmic curated COSV52885, Ensembl rs2144992005
- Q80H (p.Gln80His), gnomAD rs2082710269, REVEL 0.31, CADD 24.30
- H81L (p.His81Leu), NCI-TCGA Cosmic COSV9923, cosmic curated COSV99232, Variant assessed as somatic; moderate impact.
- N82S (p.Asn82Ser), ExAC rs776494537, gnomAD rs776494537, REVEL 0.43, CADD 26.10
- R84* (p.Arg84Ter), rs2082709836, ClinGen CA399596838, NCI-TCGA Cosmic COSV5288, cosmic curated COSV52888, Uncertain significance
- R84L (p.Arg84Leu), cosmic curated COSV99233
- R84Q (p.Arg84Gln), cosmic curated COSV52888, Ensembl rs2144991827, Uncertain significance, not provided
- R85K (p.Arg85Lys), TOPMed rs1423582073
- L90F (p.Leu90Phe), cosmic curated COSV10727
- L90I (p.Leu90Ile), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52889, Variant assessed as somatic; moderate impact.
- Q91* (p.Gln91Ter), cosmic curated COSV52884
- Q91R (p.Gln91Arg), gnomAD rs1344374375, REVEL 0.24, CADD 33.00
- R93K (p.Arg93Lys), cosmic curated COSV52889
- Y94C (p.Tyr94Cys), rs2082663522, ClinGen CA399596681, ClinVar RCV001201701, Ensembl rs2082663522, REVEL 0.68, CADD 32.00, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- L95F (p.Leu95Phe), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52885, REVEL 0.12, CADD 24.80, Variant assessed as somatic; moderate impact.
- E96Q (p.Glu96Gln), cosmic curated COSV52889
- K97M (p.Lys97Met), Ensembl rs2144979330
- P98T (p.Pro98Thr), cosmic curated COSV10959, REVEL 0.89, CADD 27.80
- M99R (p.Met99Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- M99V (p.Met99Val), gnomAD rs1452139691
- E100K (p.Glu100Lys), cosmic curated COSV52894, REVEL 0.33, CADD 22.60
- I101N (p.Ile101Asn), Ensembl rs2144979251
- A102V (p.Ala102Val), cosmic curated COSV10728, Ensembl rs2144979192, REVEL 0.59, CADD 29.10
- R103L (p.Arg103Leu), rs1417279405, ClinGen CA399596585, ClinVar RCV002006308, TOPMed rs1417279405, AlphaMissense 0.68, MetaLR 0.80, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- R103Q (p.Arg103Gln), rs1417279405, ClinGen CA399596587, cosmic curated COSV10458, ClinVar RCV001875022, REVEL 0.38, AlphaMissense 0.68, Likely benign, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- R103W (p.Arg103Trp), rs1408283351, ClinGen CA399596589, ClinVar RCV000686341, TOPMed rs1408283351, REVEL 0.57, CADD 32.00, Likely pathogenic, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- I104T (p.Ile104Thr), rs2082662438, ClinGen CA399596575, ClinVar RCV001128401, Ensembl rs2082662438, REVEL 0.62, CADD 24.50, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- A106S (p.Ala106Ser), Ensembl rs2144978911
- R107Q (p.Arg107Gln), ExAC rs749626783, gnomAD rs749626783, REVEL 0.32, CADD 24.30, Uncertain significance, in ADMIO1
- R107W (p.Arg107Trp), rs2082662047, ClinGen CA399596557, NCI-TCGA Cosmic COSV5288, cosmic curated COSV52884, REVEL 0.52, CADD 24.90, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- C108Y (p.Cys108Tyr), ExAC rs780604324, gnomAD rs780604324, REVEL 0.72, CADD 24.20
- W110L (p.Trp110Leu), Ensembl rs2144978637, REVEL 0.33, CADD 24.30
- W110R (p.Trp110Arg), Ensembl rs2082661242, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related earl
- S113L (p.Ser113Leu), gnomAD rs1215714766, REVEL 0.15, CADD 22.90, Uncertain significance, not provided
- R114C (p.Arg114Cys), rs964892419, ClinGen CA290746475, cosmic curated COSV99233, ClinVar RCV001953167, REVEL 0.77, CADD 29.20, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- R114H (p.Arg114His), rs1344978308, ClinGen CA399596466, ClinVar RCV002022610, TOPMed rs1344978308, REVEL 0.70, CADD 27.70, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- L115F (p.Leu115Phe), gnomAD rs1360347337
- L115I (p.Leu115Ile), cosmic curated COSV99233
- L116P (p.Leu116Pro), cosmic curated COSV52893
- Q117* (p.Gln117Ter), Ensembl rs2144978310, CADD 38.00
- T118I (p.Thr118Ile), TOPMed rs1234764558, gnomAD rs1234764558, REVEL 0.33, CADD 25.70
- T118S (p.Thr118Ser), ExAC rs757305223, gnomAD rs757305223
- A119T (p.Ala119Thr), Ensembl rs2082659819, REVEL 0.69, CADD 27.80
- A119V (p.Ala119Val), rs2144978181, ClinGen CA399596412, ClinVar RCV002006453, Ensembl rs2144978181, REVEL 0.75, CADD 32.00, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- A120P (p.Ala120Pro), Ensembl rs2144978152
- A120T (p.Ala120Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A120V (p.Ala120Val), Ensembl rs2144978133, REVEL 0.13, CADD 23.20
- T121S (p.Thr121Ser), ExAC rs751614036, TOPMed rs751614036, gnomAD rs751614036, REVEL 0.07, CADD 19.10, Likely benign, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- A122P (p.Ala122Pro), gnomAD rs1440082733
- A122T (p.Ala122Thr), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52884, gnomAD rs1440082733, REVEL 0.30, CADD 21.20, Variant assessed as somatic; moderate impact.
- A122V (p.Ala122Val), rs774724351, ClinGen CA8575660, cosmic curated COSV52895, ClinVar RCV001048762, REVEL 0.28, CADD 22.80, Likely benign, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- A123G (p.Ala123Gly), gnomAD rs1475754644, Uncertain significance
- A123T (p.Ala123Thr), gnomAD rs1410411796, REVEL 0.22, CADD 21.90
- A123V (p.Ala123Val), rs1475754644, ClinGen CA399596352, ClinVar RCV001193228, ClinVar RCV005213500, REVEL 0.21, CADD 22.90, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Q124H (p.Gln124His), Ensembl rs2144977901
- Q125E (p.Gln125Glu), rs574370336, ClinGen CA8575646, ClinVar RCV000658779, ClinVar RCV001198591, REVEL 0.39, CADD 23.10, Conflicting interpretations, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Q125H (p.Gln125His), ExAC rs747081170, TOPMed rs747081170, gnomAD rs747081170, Uncertain significance
- G126A (p.Gly126Ala), ExAC rs777883261, gnomAD rs777883261, REVEL 0.43, CADD 21.70, Uncertain significance
- G126E (p.Gly126Glu), rs777883261, ClinGen CA8575644, cosmic curated COSV52883, ClinVar RCV001350580, REVEL 0.41, CADD 22.50, Likely benign, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- G126R (p.Gly126Arg), Ensembl rs2082350806
- G127A (p.Gly127Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G127C (p.Gly127Cys), cosmic curated COSV52888
- G127D (p.Gly127Asp), Ensembl rs2144896420, REVEL 0.49, CADD 22.20
- Q128P (p.Gln128Pro), rs2509457222, ClinGen CA399595241, ClinVar RCV002948977, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- A129T (p.Ala129Thr), rs1222451818, ClinGen CA399595232, ClinVar RCV000804971, TOPMed rs1222451818, REVEL 0.32, CADD 22.60, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- A129V (p.Ala129Val), Ensembl rs2144896329
- N130S (p.Asn130Ser), gnomAD rs1195908534, REVEL 0.16, CADD 16.80
- N130T (p.Asn130Thr), gnomAD rs1195908534
- H131P (p.His131Pro), Ensembl rs1598426516
- H131Q (p.His131Gln), rs1490665182, ClinGen CA399595202, ClinVar RCV003326964, Uncertain significance, not provided
- H131Y (p.His131Tyr), Ensembl rs2144896240
- P132S (p.Pro132Ser), cosmic curated COSV52885, Ensembl rs2082349882
- T133P (p.Thr133Pro), TOPMed rs1442943787, gnomAD rs1442943787, REVEL 0.45, CADD 22.50
- A134S (p.Ala134Ser), TOPMed rs2082349423, Uncertain significance
- A134T (p.Ala134Thr), rs2082349423, ClinGen CA399595181, ClinVar RCV003080420, TOPMed rs2082349423, REVEL 0.41, CADD 22.50, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- A134V (p.Ala134Val), Ensembl rs2144896028
- V136L (p.Val136Leu), rs1008624238, TOPMed rs1008624238, gnomAD rs1008624238, ClinGen CA399595159, REVEL 0.18, CADD 22.10, Uncertain significance, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- V136M (p.Val136Met), rs1008624238, TOPMed rs1008624238, gnomAD rs1008624238, REVEL 0.13, CADD 20.70, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- V137A (p.Val137Ala), Ensembl rs2082348978
- T138M (p.Thr138Met), cosmic curated COSV52892, Ensembl rs2144895871, REVEL 0.22, CADD 24.10
- K140N (p.Lys140Asn), rs755877110, ClinGen CA399595108, ClinVar RCV002843737, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Q142* (p.Gln142Ter), Ensembl rs2144895751
- M143I (p.Met143Ile), rs17878478, UniProt VAR 018679, ESP rs17878478, ExAC rs17878478, REVEL 0.09, CADD 21.30, Likely benign, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- L144V (p.Leu144Val), ExAC rs761693018, TOPMed rs761693018, gnomAD rs761693018, REVEL 0.22, CADD 21.00
- H147P (p.His147Pro), Ensembl rs1598426415
- H147Y (p.His147Tyr), Ensembl rs1477283446, REVEL 0.16, CADD 23.70
- L148R (p.Leu148Arg), cosmic curated COSV52885
- Q149* (p.Gln149Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- D150Y (p.Asp150Tyr), Ensembl rs2082347505
- V151D (p.Val151Asp), cosmic curated COSV52891
- R152G (p.Arg152Gly), gnomAD rs869312890, Pathogenic, in ADMIO1
- R152L (p.Arg152Leu), Ensembl rs1567723290
- R152Q (p.Arg152Gln), Ensembl rs1567723290
- R152W (p.Arg152Trp), rs869312890, ClinGen CA357942, NCI-TCGA Cosmic COSV5288, cosmic curated COSV52886, REVEL 0.77, CADD 25.00, Pathogenic, STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- K153N (p.Lys153Asn), cosmic curated COSV52895, Ensembl rs2144895357, REVEL 0.08, CADD 19.60
- R154G (p.Arg154Gly), rs2082347176, ClinGen CA399594965, ClinVar RCV001242795, Ensembl rs2082347176, REVEL 0.27, CADD 22.50, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- V155M (p.Val155Met), NCI-TCGA Cosmic COSV5288, cosmic curated COSV52889, Variant assessed as somatic; moderate impact.
- Q156* (p.Gln156Ter), Ensembl rs2144895237
- D157N (p.Asp157Asn), rs2509448109, ClinGen CA399594892, ClinVar RCV002301443, Uncertain significance, Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
Public STAT3 analysis runs
- STAT3 analysis run — STAT3 (1,620 variants) — completed 2026-08-18