TNFRSF9 (Q07011) variants and mutations
TNFRSF9 (also known as Q07011) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 9 protein. It provides potent costimulatory signals to activated T cells and natural-killer cells, enhancing survival, cytotoxicity, and memory formation. Agonizing this pathway is a major strategy in cancer immunotherapy and is also built into some CAR-T designs. This analysis covers 495 TNFRSF9 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes immunodeficiency 109 with lymphoproliferation, hair color, and chronic venous hypertension. Example TNFRSF9 variants include M1?, G2A, and G2E.
Variant analysis overview
- Gene: TNFRSF9
- Protein: Q07011
- UniProt accession: Q07011
- Organism: Homo sapiens
- Variants analyzed: 495
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 334 unspecified-consequence records; 2 stop retained variant; 69 synonymous variants; 72 missense variants; 3 in-frame deletions; 2 in-frame insertions; 3 stop-gained variants; 2 splice-region variants; 1 stop lost; 9 frameshift variants; 1 substitution
- Prediction scores: 402 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: immunodeficiency 109 with lymphoproliferation, hair color, chronic venous hypertension, hereditary disease, total joint arthroplasty, osteoarthritis, hip, osteoarthritis, knee, diffuse large B-cell lymphoma, breast cancer, melanoma, neoplasm, gastric cancer.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 post-translational modification sites.
- Structural context: 67 variants have structural context.
- PTM context: 2 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 TNFRSF9 variants
Examples include M1?, G2A, G2E, G2R, S4G, C5G, C5S, C5Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV66348
- G2A (p.Gly2Ala), gnomAD rs1486598946, REVEL 0.10, CADD 13.60
- G2E (p.Gly2Glu), gnomAD rs1486598946, REVEL 0.04, CADD 9.36
- G2R (p.Gly2Arg), cosmic curated COSV66349
- S4G (p.Ser4Gly), TOPMed rs921425538, gnomAD rs921425538, REVEL 0.02, CADD 0.06
- C5G (p.Cys5Gly), rs556537043, ClinGen CA569378, ClinVar RCV002007989, ClinVar RCV005025565, REVEL 0.16, CADD 13.20, Uncertain significance, Immunodeficiency 109 with lymphoproliferation; not provided
- C5S (p.Cys5Ser), TOPMed rs1364641614, REVEL 0.10, CADD 0.04
- C5Y (p.Cys5Tyr), TOPMed rs1364641614, REVEL 0.07, CADD 0.01
- Y6D (p.Tyr6Asp), Ensembl rs765320702, REVEL 0.26, CADD 21.20
- N7K (p.Asn7Lys), rs1252718070, ClinGen CA338161387, ClinVar RCV001877715, TOPMed rs1252718070, REVEL 0.05, CADD 4.45, Uncertain significance, not provided
- N7S (p.Asn7Ser), ExAC rs764389515, TOPMed rs764389515, gnomAD rs764389515, REVEL 0.06, CADD 0.83
- I8T (p.Ile8Thr), ESP rs369147413, ExAC rs369147413, TOPMed rs369147413, gnomAD rs369147413, REVEL 0.11, CADD 9.91, Uncertain significance, Inborn genetic diseases
- I8V (p.Ile8Val), gnomAD rs1216340888, REVEL 0.02, CADD 0.01
- V9E (p.Val9Glu), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66348, Variant assessed as somatic; moderate impact.
- V9L (p.Val9Leu), ExAC rs76908749, gnomAD rs76908749, REVEL 0.01, CADD 5.42
- A10T (p.Ala10Thr), Ensembl rs2151420743
- L12R (p.Leu12Arg), TOPMed rs1639877281, gnomAD rs1639877281, REVEL 0.14, CADD 20.10
- L12V (p.Leu12Val), cosmic curated COSV66349, 1000Genomes rs201133913, ExAC rs201133913, TOPMed rs201133913, REVEL 0.05, CADD 0.46, Uncertain significance, not provided
- V15D (p.Val15Asp), cosmic curated COSV66348
- N17S (p.Asn17Ser), ExAC rs778222026, gnomAD rs778222026, REVEL 0.05, CADD 6.99
- F18S (p.Phe18Ser), TOPMed rs1639877131, REVEL 0.11, CADD 13.70
- E19* (p.Glu19Ter), TOPMed rs1639877083
- E19D (p.Glu19Asp), cosmic curated COSV66349
- R20S (p.Arg20Ser), 1000Genomes rs148154405, ExAC rs148154405, TOPMed rs148154405, gnomAD rs148154405, REVEL 0.13, CADD 14.60, Uncertain significance, not provided
- T21R (p.Thr21Arg), gnomAD rs1639876964, REVEL 0.28, CADD 14.10
- R22K (p.Arg22Lys), ExAC rs779662678, gnomAD rs779662678, REVEL 0.03, CADD 4.15
- R22S (p.Arg22Ser), gnomAD rs1167155216, REVEL 0.01, CADD 1.19
- S23* (p.Ser23Ter), TOPMed rs1639876822, CADD 34.00
- Q25* (p.Gln25Ter), ESP rs377680992, ExAC rs377680992, TOPMed rs377680992, gnomAD rs377680992, CADD 34.00
- D26E (p.Asp26Glu), TOPMed rs914264787, gnomAD rs914264787, REVEL 0.12, CADD 1.31, Likely benign
- D26N (p.Asp26Asn), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10109, 1000Genomes rs2151420715, REVEL 0.13, CADD 11.50, Variant assessed as somatic; moderate impact.
- P27A (p.Pro27Ala), gnomAD rs1639876493, REVEL 0.07, CADD 0.07
- P27L (p.Pro27Leu), gnomAD rs1239734917, REVEL 0.10, CADD 3.43
- C28Y (p.Cys28Tyr), ExAC rs751662579, gnomAD rs751662579, REVEL 0.34, CADD 24.10
- N30D (p.Asn30Asp), cosmic curated COSV66349, REVEL 0.02, CADD 1.77
- C31Y (p.Cys31Tyr), cosmic curated COSV66349, TOPMed rs1639876325, REVEL 0.34, CADD 22.80
- P32S (p.Pro32Ser), ExAC rs763290442, TOPMed rs763290442, gnomAD rs763290442, REVEL 0.01, CADD 8.07
- A33P (p.Ala33Pro), ExAC rs753016292, gnomAD rs753016292, REVEL 0.03, CADD 14.70
- G34C (p.Gly34Cys), ExAC rs201012166, TOPMed rs201012166, gnomAD rs201012166, REVEL 0.67, CADD 32.00, Uncertain significance
- G34S (p.Gly34Ser), rs201012166, ClinGen CA569356, ClinVar RCV001316798, ExAC rs201012166, REVEL 0.67, CADD 32.00, Uncertain significance, not provided
- T35A (p.Thr35Ala), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10109, REVEL 0.18, CADD 25.50, Variant assessed as somatic; moderate impact.
- D38E (p.Asp38Glu), TOPMed rs1639859707, gnomAD rs1639859707, REVEL 0.01, CADD 4.72
- D38N (p.Asp38Asn), ExAC rs761651539, gnomAD rs761651539, REVEL 0.05, CADD 16.50
- N39D (p.Asn39Asp), rs1173865364, ClinGen CA338160905, ClinVar RCV001956904, ClinVar RCV005515268, REVEL 0.03, CADD 19.90, Uncertain significance, Inborn genetic diseases; not provided
- N40S (p.Asn40Ser), ESP rs149613995, TOPMed rs149613995, gnomAD rs149613995, REVEL 0.17, CADD 0.01
- R41K (p.Arg41Lys), ExAC rs774199690, TOPMed rs774199690, gnomAD rs774199690, REVEL 0.01, CADD 0.01
- N42K (p.Asn42Lys), Ensembl rs1639859401
- N42T (p.Asn42Thr), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66348, Variant assessed as somatic; moderate impact.
- Q43E (p.Gln43Glu), TOPMed rs1250207743, REVEL 0.25, CADD 8.85
- Q43R (p.Gln43Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I44F (p.Ile44Phe), ESP rs374857269, ExAC rs374857269, TOPMed rs374857269, gnomAD rs374857269
- I44L (p.Ile44Leu), ESP rs374857269, ExAC rs374857269, TOPMed rs374857269, gnomAD rs374857269, REVEL 0.15, CADD 9.89
- I44M (p.Ile44Met), Ensembl rs1639859242
- S46N (p.Ser46Asn), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66349, TOPMed rs1639859146, Variant assessed as somatic; moderate impact.
- P47L (p.Pro47Leu), rs762508142, ClinGen CA569331, cosmic curated COSV10469, ClinVar RCV002576728, REVEL 0.14, CADD 13.50, Conflicting interpretations, not provided; Inborn genetic diseases
- P47S (p.Pro47Ser), cosmic curated COSV66348
- P47T (p.Pro47Thr), TOPMed rs1182809399, REVEL 0.28, CADD 17.10
- P49L (p.Pro49Leu), cosmic curated COSV10532
- P49S (p.Pro49Ser), TOPMed rs1639859005
- N51S (p.Asn51Ser), Ensembl rs1639858968
- S52G (p.Ser52Gly), ExAC rs774925474, gnomAD rs774925474, REVEL 0.29, CADD 23.70
- S55R (p.Ser55Arg), rs150479025, ClinGen CA569327, ClinVar RCV002036526, 1000Genomes rs150479025, REVEL 0.24, CADD 4.28, Uncertain significance, not provided
- A56S (p.Ala56Ser), cosmic curated COSV99072
- A56T (p.Ala56Thr), rs9657963, ClinGen CA569325, cosmic curated COSV66348, ClinVar RCV000238983, REVEL 0.07, CADD 6.70, Benign/Likely benign, not specified; not provided
- A56V (p.Ala56Val), cosmic curated COSV66349
- G57D (p.Gly57Asp), TOPMed rs1639858469, REVEL 0.29, CADD 15.80
- G58A (p.Gly58Ala), cosmic curated COSV66348
- G58E (p.Gly58Glu), ExAC rs778207494, gnomAD rs778207494, REVEL 0.59, CADD 24.00
- G58R (p.Gly58Arg), rs1216442025, NCI-TCGA Cosmic COSV6634, cosmic curated COSV66349, gnomAD rs1216442025, REVEL 0.56, CADD 25.30, Variant assessed as somatic; moderate impact.
- Q59R (p.Gln59Arg), ExAC rs758956577, gnomAD rs758956577, REVEL 0.41, CADD 23.00
- R60K (p.Arg60Lys), NCI-TCGA TCGA novel, REVEL 0.03, CADD 0.04, Variant assessed as somatic; moderate impact.
- R60S (p.Arg60Ser), TOPMed rs1639858197
- C62F (p.Cys62Phe), ExAC rs755275894, TOPMed rs755275894, gnomAD rs755275894, REVEL 0.70, CADD 23.70, Uncertain significance, Inborn genetic diseases
- C62S (p.Cys62Ser), ExAC rs755275894, TOPMed rs755275894, gnomAD rs755275894
- I64V (p.Ile64Val), rs1639567488, gnomAD 1-7921995-T-C, CADD 0.65
- C65W (p.Cys65Trp), ExAC rs766596112, TOPMed rs766596112, gnomAD rs766596112, REVEL 0.75, CADD 24.70, Likely benign
- C65Y (p.Cys65Tyr), cosmic curated COSV66349
- R66G (p.Arg66Gly), 1000Genomes rs567725192, ExAC rs567725192, gnomAD rs567725192, REVEL 0.46, CADD 22.20
- R66K (p.Arg66Lys), rs751355710, ClinGen CA569316, ClinVar RCV002711298, ClinVar RCV004966061, REVEL 0.08, CADD 6.73, Uncertain significance, Inborn genetic diseases; not provided
- K69E (p.Lys69Glu), rs2151420195, ClinGen CA338160616, ClinVar RCV001974409, Ensembl rs2151420195, AlphaMissense 0.07, MetaLR 0.32, Uncertain significance, not provided
- K69R (p.Lys69Arg), TOPMed rs1639857514, REVEL 0.17, CADD 22.70
- G70C (p.Gly70Cys), rs1399281402, NCI-TCGA Cosmic COSV1010, NCI-TCGA Cosmic COSV6634, cosmic curated COSV66348, REVEL 0.68, CADD 35.00, Variant assessed as somatic; moderate impact.
- G70D (p.Gly70Asp), rs202220858, ClinGen CA569301, ClinVar RCV001944876, ClinVar RCV005278923, REVEL 0.62, CADD 27.90, Uncertain significance, not provided; Inborn genetic diseases
- G70S (p.Gly70Ser), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10109, NCI-TCGA Cosmic COSV6634, TOPMed rs1399281402, REVEL 0.48, CADD 35.00, Variant assessed as somatic; moderate impact.
- G70V (p.Gly70Val), gnomAD 1-7922009-C-A, CADD 2.73
- G70W (p.Gly70Trp), gnomAD 1-7922010-C-A, CADD 1.05
- G70G (p.Gly70Gly), gnomAD 1-7922017-T-C, CADD 12.00
- F72L (p.Phe72Leu), TOPMed rs1639852813, gnomAD rs1639852813, REVEL 0.14, CADD 24.40
- F72S (p.Phe72Ser), rs2151420079, ClinGen CA338160581, ClinVar RCV001950400, Ensembl rs2151420079, REVEL 0.14, CADD 24.80, Uncertain significance, not provided
- R73G (p.Arg73Gly), TOPMed rs1248932867, gnomAD rs1248932867, REVEL 0.38, CADD 22.60
- R73M (p.Arg73Met), ExAC rs780199738, gnomAD rs780199738, REVEL 0.27, CADD 19.30
- R75G (p.Arg75Gly), ExAC rs756302189, gnomAD rs756302189, REVEL 0.06, CADD 23.50
- K76R (p.Lys76Arg), gnomAD rs1475856415, REVEL 0.14, CADD 15.50, Uncertain significance, not provided
- E77K (p.Glu77Lys), cosmic curated COSV10532, REVEL 0.15, CADD 0.57
- C78W (p.Cys78Trp), gnomAD rs1180566950, REVEL 0.70, CADD 23.20
- S79R (p.Ser79Arg), gnomAD 1-7922014-G-T, CADD 1.07
- S80C (p.Ser80Cys), cosmic curated COSV66348
- S80F (p.Ser80Phe), gnomAD rs1483132806, REVEL 0.31, CADD 19.80
- S80Y (p.Ser80Tyr), gnomAD rs1483132806
- T81A (p.Thr81Ala), gnomAD rs1233774215, CADD 3.20
- T81I (p.Thr81Ile), gnomAD 1-7922003-G-A, CADD 0.02
- S82N (p.Ser82Asn), rs763838333, ClinGen CA569296, ClinVar RCV004473213, ClinVar RCV005065133, REVEL 0.24, CADD 22.70, Uncertain significance, Inborn genetic diseases; not provided
- S82R (p.Ser82Arg), Ensembl rs2151420055, REVEL 0.16, CADD 16.40
- S82S (p.Ser82Ser), rs1225042021, gnomAD 1-7921984-T-G, CADD 0.43
- S82* (p.Ser82Ter), gnomAD 1-7921985-G-T, CADD 3.02
- N83S (p.Asn83Ser), TOPMed rs1639852309, gnomAD rs1639852309, REVEL 0.40, CADD 22.10
- A84T (p.Ala84Thr), rs372213895, ESP rs372213895, ExAC rs372213895, TOPMed rs372213895, REVEL 0.26, CADD 4.58, Variant assessed as somatic; moderate impact.
- E85D (p.Glu85Asp), TOPMed rs1214393986, gnomAD rs1214393986, REVEL 0.60, CADD 22.60
- D87H (p.Asp87His), cosmic curated COSV10891
- D87D (p.Asp87Asp), gnomAD 1-7922005-A-G, CADD 3.17
- D87V (p.Asp87Val), rs1048248103, gnomAD 1-7922006-T-A, CADD 4.45
- T89I (p.Thr89Ile), rs2527271035, ClinGen CA338160462, ClinVar RCV002815738, Uncertain significance, not provided
- T89P (p.Thr89Pro), rs752678621, ClinGen CA569294, ClinVar RCV001982187, ClinVar RCV004970574, REVEL 0.03, CADD 0.59, Uncertain significance, Inborn genetic diseases; not provided
- P90A (p.Pro90Ala), 1000Genomes rs191895051, Uncertain significance, Inborn genetic diseases
- P90L (p.Pro90Leu), gnomAD rs1314775714, REVEL 0.05, CADD 15.60
- F92C (p.Phe92Cys), rs1639851898, ClinGen CA338160444, ClinVar RCV002930269, TOPMed rs1639851898, AlphaMissense 0.79, MetaLR 0.06, Uncertain significance, Inborn genetic diseases
- H93R (p.His93Arg), Ensembl rs2151420042
- C94G (p.Cys94Gly), TOPMed rs1639851859, REVEL 0.33, CADD 24.60
- C94S (p.Cys94Ser), gnomAD rs944620231, REVEL 0.34, CADD 23.80
- L95V (p.Leu95Val), TOPMed rs1272992544, gnomAD rs1272992544, REVEL 0.17, CADD 0.12
- L95Q (p.Leu95Gln), gnomAD 1-7921991-A-T, CADD 0.58
- L95M (p.Leu95Met), gnomAD 1-7921992-G-T, CADD 0.10
- G96A (p.Gly96Ala), Ensembl rs1639851645, Uncertain significance, Inborn genetic diseases
- G96R (p.Gly96Arg), rs759034075, ClinGen CA338160421, ClinVar RCV001951846, ClinVar RCV005505299, REVEL 0.11, CADD 21.90, Uncertain significance, not provided; Inborn genetic diseases
- A97E (p.Ala97Glu), 1000Genomes rs540659499, ExAC rs540659499, gnomAD rs540659499, REVEL 0.28, CADD 0.73
- A97T (p.Ala97Thr), ExAC rs776187488, gnomAD rs776187488, REVEL 0.14, CADD 2.88
- G98R (p.Gly98Arg), gnomAD rs1330172090, REVEL 0.03, CADD 8.72
- S100I (p.Ser100Ile), ExAC rs772618014, gnomAD rs772618014, REVEL 0.26, CADD 4.24
- S100N (p.Ser100Asn), ExAC rs772618014, gnomAD rs772618014, REVEL 0.19, CADD 0.14
- Q104* (p.Gln104Ter), rs2527270896, ClinGen CA338160364, ClinVar RCV002835008, CADD 32.00, Pathogenic
- Q104H (p.Gln104His), 1000Genomes rs558185715, ExAC rs558185715, gnomAD rs558185715, REVEL 0.03, CADD 0.30
- D105V (p.Asp105Val), ExAC rs775069840, gnomAD rs775069840, REVEL 0.38, CADD 22.70
- K107N (p.Lys107Asn), cosmic curated COSV10822
- Q108E (p.Gln108Glu), rs147680622, ClinGen CA569283, cosmic curated COSV66349, ClinVar RCV002033855, REVEL 0.21, CADD 7.43, Uncertain significance, not provided
- Q108K (p.Gln108Lys), ESP rs147680622, ExAC rs147680622, TOPMed rs147680622, gnomAD rs147680622, REVEL 0.23, CADD 9.58, Uncertain significance
- G109S (p.Gly109Ser), rs2527270851, ClinGen CA338160330, ClinVar RCV003152819, UniProt VAR 088225, Uncertain significance, in IMD109
- E111* (p.Glu111Ter), NCI-TCGA Cosmic COSV6634, cosmic curated COSV66349, Variant assessed as somatic; high impact.
- E111G (p.Glu111Gly), ExAC rs780116617, TOPMed rs780116617, gnomAD rs780116617, REVEL 0.33, CADD 17.60
- E111K (p.Glu111Lys), 1000Genomes rs546352765, gnomAD rs546352765, REVEL 0.50, CADD 23.90
- E111Q (p.Glu111Gln), NCI-TCGA Cosmic COSV6634, Variant assessed as somatic; moderate impact.
- L112M (p.Leu112Met), gnomAD rs1194429681, REVEL 0.33, CADD 3.71
- L112Q (p.Leu112Gln), gnomAD rs1489523268, REVEL 0.43, CADD 17.60
- L112V (p.Leu112Val), gnomAD rs1194429681
- T113K (p.Thr113Lys), cosmic curated COSV10749, TOPMed rs1321013578, gnomAD rs1321013578, REVEL 0.13, CADD 17.80
- T113P (p.Thr113Pro), ExAC rs769942709, TOPMed rs769942709, gnomAD rs769942709, REVEL 0.11, CADD 16.40
- T113R (p.Thr113Arg), TOPMed rs1321013578, gnomAD rs1321013578, REVEL 0.14, CADD 22.00
- K114E (p.Lys114Glu), TOPMed rs1242028681, gnomAD rs1242028681, REVEL 0.19, CADD 0.15
- K114N (p.Lys114Asn), gnomAD rs1374314541, REVEL 0.11, CADD 2.47
- K115N (p.Lys115Asn), rs9657965, ClinGen CA569279, ClinVar RCV001468948, ClinVar RCV004540392, REVEL 0.27, CADD 0.06, Likely benign, not provided
- K115T (p.Lys115Thr), cosmic curated COSV10442
- G116A (p.Gly116Ala), rs752004630, ClinGen CA338159494, ClinVar RCV002796806, REVEL 0.10, CADD 29.00, Uncertain significance, not provided
- G116C (p.Gly116Cys), TOPMed rs1639850356, REVEL 0.21, CADD 33.00
- G116D (p.Gly116Asp), ExAC rs752004630, gnomAD rs752004630, REVEL 0.17, CADD 33.00
- G116S (p.Gly116Ser), cosmic curated COSV66349, REVEL 0.14, CADD 32.00
- G116V (p.Gly116Val), gnomAD 1-7937756-C-A, REVEL 0.15, CADD 33.00
- C117F (p.Cys117Phe), Ensembl rs1639841684
- C117G (p.Cys117Gly), ESP rs371033313, ExAC rs371033313, TOPMed rs371033313, gnomAD rs371033313, REVEL 0.86, CADD 26.80
- C117R (p.Cys117Arg), ESP rs371033313, ExAC rs371033313, TOPMed rs371033313, gnomAD rs371033313, REVEL 0.84, CADD 26.30, Uncertain significance, Inborn genetic diseases; not provided
- K118N (p.Lys118Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K118R (p.Lys118Arg), gnomAD 1-7937750-T-C, REVEL 0.22, CADD 22.40
- D119H (p.Asp119His), rs763203873, ClinGen CA569247, ClinVar RCV003698301, ExAC rs763203873, REVEL 0.10, CADD 26.10, Uncertain significance, not provided
- D119G (p.Asp119Gly), gnomAD 1-7937747-T-C, REVEL 0.14, CADD 23.90
- D119N (p.Asp119Asn), gnomAD 1-7937748-C-T, REVEL 0.04, CADD 22.90
- D119R (p.Asp119Arg), rs755017160, gnomAD 1-7937748-C-CT, CADD 31.00
- C120S (p.Cys120Ser), cosmic curated COSV10749
- C120L (p.Cys120Leu), gnomAD 1-7937742-AAC-A, CADD 32.00
- C120C (p.Cys120Cys), gnomAD 1-7937743-A-G, CADD 4.95
- C121C (p.Cys121Cys), rs1639841541, gnomAD 1-7937740-G-A, CADD 4.79
- F122L (p.Phe122Leu), TOPMed rs1639841494, gnomAD rs1639841494, REVEL 0.03, CADD 12.20
- G123G (p.Gly123Gly), rs776103725, gnomAD 1-7937734-C-T, CADD 9.26
- T124A (p.Thr124Ala), TOPMed rs1639841413, REVEL 0.15, CADD 23.50
- T124T (p.Thr124Thr), gnomAD 1-7937731-T-G, CADD 7.58
- T124I (p.Thr124Ile), gnomAD 1-7937732-G-A, REVEL 0.15, CADD 24.50
- F125L (p.Phe125Leu), gnomAD 1-7937730-A-G, REVEL 0.22, CADD 26.70
- N126K (p.Asn126Lys), ExAC rs765656918, TOPMed rs765656918, gnomAD rs765656918, REVEL 0.41, CADD 7.94, Likely benign
- N126S (p.Asn126Ser), TOPMed rs1000115443
- N126N (p.Asn126Asn), rs765656918, gnomAD 1-7937725-G-A, CADD 0.60
- D127G (p.Asp127Gly), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10109, Variant assessed as somatic; moderate impact.
- D127N (p.Asp127Asn), rs759670379, NCI-TCGA Cosmic COSV6634, cosmic curated COSV66348, ExAC rs759670379, REVEL 0.06, CADD 17.10, Uncertain significance, Inborn genetic diseases
- D127D (p.Asp127Asp), gnomAD 1-7937722-A-G, CADD 2.68
Public TNFRSF9 analysis runs
- TNFRSF9 analysis run — TNFRSF9 (495 variants) — completed 2026-08-21