STAT2 (P52630) variants and mutations
STAT2 (also known as P52630) is a human protein-coding gene encoding a signal transducer and activator of transcription 2 protein. It partners with STAT1 and IRF9 to execute type I interferon antiviral transcriptional programs. Biallelic loss-of-function variants can cause severe viral susceptibility, while gain-of-function variants can produce chronic interferon-driven inflammatory disease. This analysis covers 1,035 STAT2 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, pseudo-TORCH syndrome 3, and COVID-19. Example STAT2 variants include M1?, A2T, and A2V.
Variant analysis overview
- Gene: STAT2
- Protein: P52630
- UniProt accession: P52630
- Organism: Homo sapiens
- Variants analyzed: 1035
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 781 unspecified-consequence records; 109 missense variants; 123 synonymous variants; 11 frameshift variants; 4 in-frame deletions; 5 stop-gained variants; 2 splice-region variants
- Prediction scores: 794 variants have prediction scores (77% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, pseudo-TORCH syndrome 3, COVID-19, dengue disease, hereditary disease, neoplasm, psoriasis, systemic lupus erythematosus, Zika virus infectious disease, infection, ovarian carcinoma, ovarian cancer.
Protein structure and variant hotspots
- Protein features: 1 domains; 6 post-translational modification sites.
- Structural context: 186 variants have structural context.
- PTM context: 8 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 STAT2 variants
Examples include M1?, A2T, A2V, W4*, L10H, S12G, Q15*, D16A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5847, cosmic curated COSV58474, Variant assessed as somatic; high impact.
- A2T (p.Ala2Thr), Ensembl rs1879543672, REVEL 0.17, CADD 23.20
- A2V (p.Ala2Val), rs200501174, ClinGen CA6630972, NCI-TCGA Cosmic COSV5847, cosmic curated COSV58476, REVEL 0.32, CADD 26.60, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- W4* (p.Trp4Ter), TOPMed rs1879541635
- L10H (p.Leu10His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S12G (p.Ser12Gly), rs1565660719, ClinGen CA385264280, ClinVar RCV000768098, ClinVar RCV002533935, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Q15* (p.Gln15Ter), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58475, Variant assessed as somatic; high impact.
- D16A (p.Asp16Ala), ExAC rs761370532, TOPMed rs761370532, gnomAD rs761370532, REVEL 0.13, CADD 24.30, Uncertain significance
- D16G (p.Asp16Gly), rs761370532, ClinGen CA6630967, ClinVar RCV001070160, ExAC rs761370532, REVEL 0.16, CADD 25.10, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- D16V (p.Asp16Val), ExAC rs761370532, TOPMed rs761370532, gnomAD rs761370532, REVEL 0.22, CADD 28.60, Uncertain significance
- D16Y (p.Asp16Tyr), Ensembl rs986985108
- Q17H (p.Gln17His), gnomAD rs1879538975, REVEL 0.27, CADD 23.90
- L18M (p.Leu18Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H19L (p.His19Leu), ESP rs374722858, ExAC rs374722858, TOPMed rs374722858, gnomAD rs374722858, REVEL 0.21, CADD 24.10
- H19R (p.His19Arg), ESP rs374722858, ExAC rs374722858, TOPMed rs374722858, gnomAD rs374722858, REVEL 0.18, CADD 25.10
- H19Y (p.His19Tyr), gnomAD rs1879538413, REVEL 0.04, CADD 19.70
- Q20R (p.Gln20Arg), TOPMed rs1323204124, gnomAD rs1323204124, REVEL 0.13, CADD 18.90
- L21H (p.Leu21His), TOPMed rs1245963214, gnomAD rs1245963214, REVEL 0.67, CADD 27.10
- L21V (p.Leu21Val), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, Variant assessed as somatic; moderate impact.
- Y22H (p.Tyr22His), Ensembl rs2136091950
- H24L (p.His24Leu), Ensembl rs1592491377, REVEL 0.05, CADD 8.12
- P28L (p.Pro28Leu), rs2547270636, NCI-TCGA Cosmic COSV5847, cosmic curated COSV58475, ClinGen CA385264167, REVEL 0.73, CADD 25.90, Uncertain significance, not provided
- V29E (p.Val29Glu), ExAC rs779641230, gnomAD rs779641230, REVEL 0.35, CADD 25.80
- R32* (p.Arg32Ter), rs769566394, NCI-TCGA Cosmic COSV5847, cosmic curated COSV58474, ExAC rs769566394, CADD 36.00, Variant assessed as somatic; high impact.
- R32G (p.Arg32Gly), ExAC rs769566394, gnomAD rs769566394, REVEL 0.85, CADD 26.10
- R32L (p.Arg32Leu), Ensembl rs1879532568
- R32Q (p.Arg32Gln), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, REVEL 0.83, CADD 27.50, Variant assessed as somatic; moderate impact.
- Y34* (p.Tyr34Ter), TOPMed rs1879531000, gnomAD rs1879531000
- Y34C (p.Tyr34Cys), gnomAD rs1879531643, REVEL 0.20, CADD 18.70
- Y34F (p.Tyr34Phe), NCI-TCGA TCGA novel, REVEL 0.08, CADD 20.20, Variant assessed as somatic; moderate impact.
- L35V (p.Leu35Val), ExAC rs745665410, gnomAD rs745665410
- A36T (p.Ala36Thr), rs1879530120, ClinGen CA385264118, ClinVar RCV001208734, Ensembl rs1879530120, REVEL 0.58, CADD 24.60, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- V37F (p.Val37Phe), rs144812882, ClinGen CA6630959, ClinVar RCV000690233, 1000Genomes rs144812882, REVEL 0.12, CADD 11.30, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- V37I (p.Val37Ile), 1000Genomes rs144812882, ESP rs144812882, ExAC rs144812882, TOPMed rs144812882, REVEL 0.11, CADD 10.20, Uncertain significance
- V37L (p.Val37Leu), rs144812882, ClinGen CA385264111, ClinVar RCV001986113, NCI-TCGA TCGA novel, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- W38* (p.Trp38Ter), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58477, Variant assessed as somatic; high impact.
- I39S (p.Ile39Ser), rs757152982, ClinGen CA385264094, ClinVar RCV002927633, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- I39T (p.Ile39Thr), rs757152982, ClinGen CA6630958, ClinVar RCV000545981, ClinVar RCV005492843, REVEL 0.77, CADD 27.20, Uncertain significance, Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell
- Q42* (p.Gln42Ter), rs1258502384, ClinGen CA385264076, ClinVar RCV001993355, TOPMed rs1258502384, Pathogenic
- Q42E (p.Gln42Glu), TOPMed rs1258502384, gnomAD rs1258502384, REVEL 0.30, CADD 25.20, Pathogenic
- Q42K (p.Gln42Lys), rs1258502384, ClinGen CA385264075, ClinVar RCV001220034, TOPMed rs1258502384, REVEL 0.28, CADD 25.60, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- N43K (p.Asn43Lys), TOPMed rs1182244325, gnomAD rs1182244325, REVEL 0.21, CADD 29.10
- Q45H (p.Gln45His), rs1879498369, ClinGen CA385264032, ClinVar RCV001247040, Ensembl rs1879498369, REVEL 0.07, CADD 18.90, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- A47V (p.Ala47Val), ExAC rs758442457, gnomAD rs758442457, REVEL 0.22, CADD 24.60
- G50R (p.Gly50Arg), TOPMed rs891522062
- G50V (p.Gly50Val), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, Variant assessed as somatic; moderate impact.
- S51N (p.Ser51Asn), gnomAD rs1323428827, REVEL 0.04, CADD 0.07
- D52N (p.Asp52Asn), gnomAD rs1290391826
- D52V (p.Asp52Val), gnomAD rs1879495198, REVEL 0.35, CADD 25.40
- K55* (p.Lys55Ter), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58476, Variant assessed as somatic; high impact.
- A56P (p.Ala56Pro), TOPMed rs1879494226
- T57A (p.Thr57Ala), TOPMed rs1409348158
- T57I (p.Thr57Ile), ExAC rs755128109, gnomAD rs755128109, REVEL 0.01, CADD 7.32
- M58T (p.Met58Thr), TOPMed rs1879492478
- F60L (p.Phe60Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L64S (p.Leu64Ser), gnomAD rs1367392125
- Q66H (p.Gln66His), rs2066816, UniProt VAR 014896, Ensembl rs2066816
- Y69N (p.Tyr69Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E70K (p.Glu70Lys), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58476, Variant assessed as somatic; moderate impact.
- C71G (p.Cys71Gly), TOPMed rs1879488345, REVEL 0.09, CADD 17.00
- C71R (p.Cys71Arg), TOPMed rs1879488345
- C71Y (p.Cys71Tyr), ExAC rs750894216, gnomAD rs750894216, REVEL 0.12, CADD 7.98
- G72S (p.Gly72Ser), gnomAD rs1318186936, REVEL 0.03, CADD 10.30
- R73C (p.Arg73Cys), rs768151761, ClinGen CA6630929, cosmic curated COSV58474, ClinVar RCV002582051, REVEL 0.36, CADD 26.00, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- R73H (p.Arg73His), rs375433807, ClinGen CA6630928, ClinVar RCV003084572, ClinVar RCV006381830, REVEL 0.11, CADD 18.60, Uncertain significance, Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell
- R73L (p.Arg73Leu), cosmic curated COSV99041, ESP rs375433807, ExAC rs375433807, TOPMed rs375433807, REVEL 0.32, CADD 23.50, Uncertain significance
- S75N (p.Ser75Asn), Ensembl rs908642020
- Q76P (p.Gln76Pro), TOPMed rs1879485090, gnomAD rs1879485090, REVEL 0.10, CADD 18.20
- P78L (p.Pro78Leu), cosmic curated COSV10738, ExAC rs774830295, TOPMed rs774830295, gnomAD rs774830295, REVEL 0.21, CADD 21.70
- P78R (p.Pro78Arg), ExAC rs774830295, TOPMed rs774830295, gnomAD rs774830295, REVEL 0.21, CADD 20.40
- P78T (p.Pro78Thr), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, Variant assessed as somatic; moderate impact.
- E79Q (p.Glu79Gln), rs764849880, ClinGen CA6630926, ClinVar RCV003104208, ExAC rs764849880, REVEL 0.09, CADD 4.17, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- S80C (p.Ser80Cys), ExAC rs759097133, TOPMed rs759097133, gnomAD rs759097133, REVEL 0.04, CADD 0.04, Likely benign, Inborn genetic diseases
- L81S (p.Leu81Ser), TOPMed rs1879481891
- Q84K (p.Gln84Lys), rs150901100, ClinGen CA6630924, ClinVar RCV000788163, ClinVar RCV000802910, REVEL 0.15, CADD 13.50, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- N86Y (p.Asn86Tyr), rs2547269620, ClinGen CA385263754, ClinVar RCV002927561, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- L87F (p.Leu87Phe), rs2547269607, ClinGen CA385263743, ClinVar RCV002297535, REVEL 0.11, CADD 14.30, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- R88Q (p.Arg88Gln), ESP rs138926222, ExAC rs138926222, TOPMed rs138926222, gnomAD rs138926222, REVEL 0.24, CADD 26.10
- R88W (p.Arg88Trp), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58477, REVEL 0.45, CADD 25.80, Variant assessed as somatic; moderate impact.
- F90S (p.Phe90Ser), rs189335310, ClinGen CA237655767, cosmic curated COSV10002, ClinVar RCV002009414, REVEL 0.19, CADD 24.40, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- R92P (p.Arg92Pro), ESP rs146096134, ExAC rs146096134, TOPMed rs146096134, gnomAD rs146096134, Likely benign
- R92Q (p.Arg92Gln), rs146096134, ClinGen CA6630921, ClinVar RCV001366926, ClinVar RCV004036990, REVEL 0.05, CADD 20.20, Conflicting interpretations, Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell
- R92W (p.Arg92Trp), rs746815427, ClinGen CA6630922, cosmic curated COSV58474, ClinVar RCV001257209, REVEL 0.26, CADD 25.90, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- D93N (p.Asp93Asn), TOPMed rs1879478318
- I94T (p.Ile94Thr), rs1340098251, ClinGen CA385263699, ClinVar RCV003049157, gnomAD rs1340098251, REVEL 0.24, CADD 25.60, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Q95* (p.Gln95Ter), cosmic curated COSV10519, TOPMed rs1879476945
- F97I (p.Phe97Ile), rs575284381, ClinGen CA6630905, ClinVar RCV004465505, 1000Genomes rs575284381, REVEL 0.06, CADD 17.60, Uncertain significance, Inborn genetic diseases
- F97S (p.Phe97Ser), ESP rs142832877, ExAC rs142832877, TOPMed rs142832877, gnomAD rs142832877, REVEL 0.27, CADD 20.60
- S98F (p.Ser98Phe), rs1294214696, ClinGen CA385263660, ClinVar RCV002006939, gnomAD rs1294214696, REVEL 0.03, CADD 15.70, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- S98Y (p.Ser98Tyr), gnomAD rs1294214696, REVEL 0.06, CADD 13.90, Uncertain significance
- Q99* (p.Gln99Ter), Ensembl rs2136088691, CADD 32.00
- Q99H (p.Gln99His), rs367793690, ClinGen CA6630902, ClinVar RCV001233807, ESP rs367793690, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- D100G (p.Asp100Gly), ExAC rs774417394, TOPMed rs774417394, gnomAD rs774417394, REVEL 0.02, CADD 7.93
- D100V (p.Asp100Val), ExAC rs774417394, TOPMed rs774417394, gnomAD rs774417394, REVEL 0.04, CADD 17.30
- P101S (p.Pro101Ser), rs768555442, ClinGen CA6630900, cosmic curated COSV10519, ClinVar RCV002899611, REVEL 0.19, CADD 14.70, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Q103P (p.Gln103Pro), TOPMed rs1377345418, gnomAD rs1377345418, REVEL 0.29, CADD 22.90
- L104W (p.Leu104Trp), TOPMed rs1879414885
- M107I (p.Met107Ile), 1000Genomes rs563355373, ExAC rs563355373, gnomAD rs563355373, REVEL 0.05, CADD 15.90
- F109L (p.Phe109Leu), gnomAD rs1879413907, REVEL 0.10, CADD 23.40
- N110H (p.Asn110His), Ensembl rs1879413431
- N110K (p.Asn110Lys), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, TOPMed rs1334089083, gnomAD rs1334089083, REVEL 0.21, CADD 17.40, Variant assessed as somatic; moderate impact.
- L111F (p.Leu111Phe), rs199890161, ClinGen CA6630897, ClinVar RCV000698784, 1000Genomes rs199890161, REVEL 0.07, CADD 23.40, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- L111I (p.Leu111Ile), rs199890161, ClinGen CA385263574, ClinVar RCV002911977, REVEL 0.10, CADD 23.10, Uncertain significance, Inborn genetic diseases
- L112F (p.Leu112Phe), gnomAD rs1879410797, REVEL 0.71, CADD 27.40
- E114K (p.Glu114Lys), rs1592490011, ClinGen CA385263557, ClinVar RCV001049114, TOPMed rs1592490011, MutPred 0.47, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- R117I (p.Arg117Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L119S (p.Leu119Ser), gnomAD rs1427792622, REVEL 0.48, CADD 26.40
- I120L (p.Ile120Leu), TOPMed rs1391968116, gnomAD rs1391968116, REVEL 0.09, CADD 17.70
- I120V (p.Ile120Val), TOPMed rs1391968116, gnomAD rs1391968116, REVEL 0.09, CADD 16.40
- Q121* (p.Gln121Ter), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58475, Variant assessed as somatic; high impact.
- R124K (p.Arg124Lys), ExAC rs781396589, gnomAD rs781396589, REVEL 0.09, CADD 14.80
- A125P (p.Ala125Pro), rs1245063187, ClinGen CA385263477, ClinVar RCV002902504, TOPMed rs1245063187, REVEL 0.62, CADD 23.60, Uncertain significance, Inborn genetic diseases
- Q126H (p.Gln126His), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58475, Variant assessed as somatic; moderate impact.
- Q126P (p.Gln126Pro), TOPMed rs1879405529, gnomAD rs1879405529, REVEL 0.49, CADD 24.50
- L127S (p.Leu127Ser), Ensembl rs2136088295
- E128G (p.Glu128Gly), 1000Genomes rs537645066, ExAC rs537645066, gnomAD rs537645066, REVEL 0.13, CADD 17.20
- Q129E (p.Gln129Glu), ExAC rs776916090, TOPMed rs776916090, gnomAD rs776916090, REVEL 0.42, CADD 17.20
- Q129R (p.Gln129Arg), gnomAD rs1267651384, REVEL 0.34, CADD 18.30
- L134F (p.Leu134Phe), rs1264238680, ClinGen CA385263403, cosmic curated COSV10644, ClinVar RCV000537418, MutPred 0.41, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- E135* (p.Glu135Ter), rs753806117, ClinGen CA385263398, ClinVar RCV002616437, ExAC rs753806117, CADD 25.80, Pathogenic
- E135G (p.Glu135Gly), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58474, Variant assessed as somatic; moderate impact.
- E135K (p.Glu135Lys), rs753806117, ClinGen CA6630875, ClinVar RCV001230385, ExAC rs753806117, REVEL 0.11, CADD 5.90, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- P137A (p.Pro137Ala), rs2136087361, ClinGen CA385263385, ClinVar RCV001924295, Ensembl rs2136087361, MutPred 0.38, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- P137H (p.Pro137His), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58474, Variant assessed as somatic; moderate impact.
- P137L (p.Pro137Leu), NCI-TCGA Cosmic COSV5847, TOPMed rs1879364569, gnomAD rs1879364569, REVEL 0.11, CADD 15.70, Variant assessed as somatic; moderate impact.
- V138L (p.Val138Leu), ExAC rs778099021, gnomAD rs778099021, REVEL 0.14, CADD 9.00
- S140C (p.Ser140Cys), ExAC rs758869093, TOPMed rs758869093, gnomAD rs758869093, Uncertain significance
- S140G (p.Ser140Gly), rs758869093, ClinGen CA6630873, ClinVar RCV001210593, ExAC rs758869093, REVEL 0.12, CADD 20.30, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- S140N (p.Ser140Asn), TOPMed rs978513029, gnomAD rs978513029, REVEL 0.03, CADD 12.80
- S140R (p.Ser140Arg), ExAC rs758869093, TOPMed rs758869093, gnomAD rs758869093, REVEL 0.15, CADD 22.60, Uncertain significance
- H143N (p.His143Asn), rs2136087270, ClinGen CA385263345, ClinVar RCV002046686, Ensembl rs2136087270, MutPred 0.43, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- H143Q (p.His143Gln), rs372975661, ClinGen CA6630871, ClinVar RCV001223533, ESP rs372975661, REVEL 0.06, CADD 12.40, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- H143R (p.His143Arg), TOPMed rs1388461421, gnomAD rs1388461421, REVEL 0.04, CADD 9.36
- I145T (p.Ile145Thr), rs2547267962, ClinGen CA385263326, ClinVar RCV003068549, REVEL 0.34, CADD 22.20, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- R148Q (p.Arg148Gln), rs1879360038, ClinGen CA385263307, cosmic curated COSV58474, ClinVar RCV001156646, REVEL 0.25, CADD 26.40, Conflicting interpretations, Pseudo-TORCH syndrome 3; Primary immunodeficiency with post-measles-mumps-rubell
- R148W (p.Arg148Trp), rs1458224681, ClinGen CA385263308, cosmic curated COSV58477, ClinVar RCV001249565, REVEL 0.27, CADD 25.00, Pathogenic, Pseudo-TORCH syndrome 3
- L150M (p.Leu150Met), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10002, Variant assessed as somatic; moderate impact.
- L152V (p.Leu152Val), NCI-TCGA TCGA novel, REVEL 0.36, CADD 23.50, Variant assessed as somatic; moderate impact.
- R153K (p.Arg153Lys), ExAC rs755691354, TOPMed rs755691354, gnomAD rs755691354, REVEL 0.05, CADD 0.43
- M155I (p.Met155Ile), TOPMed rs1879357494, gnomAD rs1879357494, REVEL 0.02, CADD 17.60
- M155T (p.Met155Thr), rs767217369, NCI-TCGA Cosmic COSV5847, cosmic curated COSV58475, ExAC rs767217369, REVEL 0.03, CADD 7.72, Variant assessed as somatic; moderate impact.
- M155V (p.Met155Val), rs1473365042, ClinGen CA385263264, ClinVar RCV002571638, gnomAD rs1473365042, REVEL 0.05, CADD 13.70, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- M156I (p.Met156Ile), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58477, Ensembl rs1592489402, Variant assessed as somatic; moderate impact.
- M156T (p.Met156Thr), gnomAD rs1197519321, REVEL 0.14, CADD 22.80
- L159Q (p.Leu159Gln), Ensembl rs1879339474
- L159V (p.Leu159Val), TOPMed rs1200821507, REVEL 0.06, CADD 16.70
- V160I (p.Val160Ile), gnomAD rs1879339023, REVEL 0.24, CADD 22.10
- I163V (p.Ile163Val), rs756904021, ClinGen CA6630850, ClinVar RCV002889470, ExAC rs756904021, REVEL 0.03, CADD 1.12, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- L166R (p.Leu166Arg), ExAC rs763974330, gnomAD rs763974330, REVEL 0.81, CADD 26.00
- K167E (p.Lys167Glu), gnomAD rs1278228607, REVEL 0.05, CADD 18.90
- Q169* (p.Gln169Ter), ExAC rs752623685, TOPMed rs752623685, gnomAD rs752623685, CADD 36.00
- V172I (p.Val172Ile), rs945706789, ClinGen CA237655057, ClinVar RCV002640721, TOPMed rs945706789, REVEL 0.10, CADD 16.20, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- F173L (p.Phe173Leu), TOPMed rs1879334196
- Y177H (p.Tyr177His), ExAC rs759490169, TOPMed rs759490169, gnomAD rs759490169, REVEL 0.42, CADD 23.10
- K178* (p.Lys178Ter), ExAC rs766415320, gnomAD rs766415320
- K178E (p.Lys178Glu), ExAC rs766415320, gnomAD rs766415320, REVEL 0.22, CADD 20.80
- I179T (p.Ile179Thr), gnomAD rs1879331528, REVEL 0.10, CADD 0.66
- Q180E (p.Gln180Glu), rs1592489044, ClinGen CA385263074, ClinVar RCV000807124, Ensembl rs1592489044, MutPred 0.64, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- A181V (p.Ala181Val), rs760935390, ClinGen CA6630841, ClinVar RCV003079358, ExAC rs760935390, REVEL 0.03, CADD 0.16, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- T185A (p.Thr185Ala), TOPMed rs1242261257, REVEL 0.09, CADD 14.90
- T185I (p.Thr185Ile), TOPMed rs1482155277, gnomAD rs1482155277, REVEL 0.06, CADD 21.30
- P186L (p.Pro186Leu), Ensembl rs1879265932
- P186S (p.Pro186Ser), rs545381204, ClinGen CA237654809, ClinVar RCV002571759, Ensembl rs545381204, REVEL 0.04, CADD 0.00, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- S187F (p.Ser187Phe), ExAC rs750586683, TOPMed rs750586683, gnomAD rs750586683, REVEL 0.27, CADD 19.20
- D189E (p.Asp189Glu), rs1879265080, ClinGen CA385263001, ClinVar RCV001352223, TOPMed rs1879265080, REVEL 0.08, CADD 17.20, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- P190A (p.Pro190Ala), gnomAD rs1879264656, REVEL 0.15, CADD 2.87
- Q192E (p.Gln192Glu), rs1254058764, ClinGen CA385262984, ClinVar RCV001910954, TOPMed rs1254058764, REVEL 0.11, CADD 11.50, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- T193I (p.Thr193Ile), TOPMed rs1427401724, gnomAD rs1427401724, REVEL 0.21, CADD 0.00
- T193S (p.Thr193Ser), Ensembl rs1879263815
- K194R (p.Lys194Arg), Ensembl rs896083809
- E195Q (p.Glu195Gln), Ensembl rs1879262615
- K197E (p.Lys197Glu), Ensembl rs1879262178
- K197T (p.Lys197Thr), rs762129965, ClinGen CA6630820, cosmic curated COSV58475, ClinVar RCV003755148, REVEL 0.14, CADD 16.80, Uncertain significance, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- L199M (p.Leu199Met), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58474, Variant assessed as somatic; moderate impact.
- Q200* (p.Gln200Ter), rs386352367, ClinGen CA232255, ClinVar RCV000122521, Ensembl rs386352367, Uncertain significance
- Q200R (p.Gln200Arg), NCI-TCGA Cosmic COSV5847, cosmic curated COSV58477, Variant assessed as somatic; moderate impact.
- T202I (p.Thr202Ile), ExAC rs768953916, REVEL 0.18, CADD 25.00
- T202S (p.Thr202Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L203V (p.Leu203Val), Ensembl rs2136084541
- N204D (p.Asn204Asp), ExAC rs763506452, gnomAD rs763506452, REVEL 0.36, CADD 25.80
Public STAT2 analysis runs
- STAT2 analysis run — STAT2 (1,035 variants) — completed 2026-08-20