TNFRSF13B (O14836) variants and mutations
TNFRSF13B (also known as O14836) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 13B protein. It responds to BAFF and APRIL and regulates B-cell survival, antibody production, and immunoglobulin class switching. Pathogenic variants are enriched in common variable immunodeficiency and can contribute to antibody deficiency, although penetrance is incomplete for many heterozygous alleles. This analysis covers 699 TNFRSF13B variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes immunodeficiency, common variable, 2, immunoglobulin A deficiency 2, and common variable immunodeficiency. Example TNFRSF13B variants include M1I, S2G, and S2N.
Variant analysis overview
- Gene: TNFRSF13B
- Protein: O14836
- UniProt accession: O14836
- Organism: Homo sapiens
- Variants analyzed: 699
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 471 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 97 synonymous variants; 82 missense variants; 32 frameshift variants; 5 stop-gained variants; 3 in-frame deletions; 1 protein altering variant; 2 splice-region variants; 1 in-frame insertions; 5 substitution
- Prediction scores: 591 variants have prediction scores (85% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: immunodeficiency, common variable, 2, immunoglobulin A deficiency 2, common variable immunodeficiency, plasma cell myeloma, monoclonal gammopathy, immunodeficiency, common variable, 1, recurrent infections associated with rare immunoglobulin isotypes deficiency, Paraproteinemia, amino acid metabolism disease, plasma protein metabolism disease, lymphatic system disorder, tonsillitis.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 post-translational modification sites.
- Structural context: 53 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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable TNFRSF13B variants
Examples include M1I, S2G, S2N, G3A, G3C, G3D, G3S, G3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs772864862, ClinGen CA8414175, ClinVar RCV001954212, MetaLR 0.80, MetaSVM 0.68, Uncertain significance, Immunodeficiency, common variable, 2
- S2G (p.Ser2Gly), ExAC rs769586971, gnomAD rs769586971, REVEL 0.28, CADD 20.30
- S2N (p.Ser2Asn), rs2087749412, ClinGen CA398520684, ClinVar RCV001339317, Ensembl rs2087749412, REVEL 0.30, CADD 14.20, Uncertain significance, Immunodeficiency, common variable, 2
- G3A (p.Gly3Ala), 1000Genomes rs201599964, ExAC rs201599964, TOPMed rs201599964, gnomAD rs201599964
- G3C (p.Gly3Cys), NCI-TCGA Cosmic COSV9989, cosmic curated COSV99891, Variant assessed as somatic; moderate impact.
- G3D (p.Gly3Asp), 1000Genomes rs201599964, ExAC rs201599964, TOPMed rs201599964, gnomAD rs201599964, REVEL 0.24, CADD 16.80
- G3S (p.Gly3Ser), gnomAD rs910642254
- G3V (p.Gly3Val), 1000Genomes rs201599964, ExAC rs201599964, TOPMed rs201599964, gnomAD rs201599964, REVEL 0.25, CADD 21.80
- L4P (p.Leu4Pro), rs2087749301, ClinGen CA398520674, ClinVar RCV001193830, ClinVar RCV005286325, REVEL 0.40, CADD 23.70, Uncertain significance, Inborn genetic diseases; not specified
- R6Q (p.Arg6Gln), rs747078163, ClinGen CA8414169, cosmic curated COSV55430, ClinVar RCV000648143, REVEL 0.25, CADD 7.12, Uncertain significance, Immunodeficiency, common variable, 2
- R6W (p.Arg6Trp), rs768911609, ClinGen CA8414170, ClinVar RCV001070612, ExAC rs768911609, REVEL 0.32, CADD 21.60, Uncertain significance, Immunodeficiency, common variable, 2
- S7R (p.Ser7Arg), rs780461208, ClinGen CA8414168, ClinVar RCV001324721, ExAC rs780461208, REVEL 0.18, CADD 9.74, Uncertain significance, Immunodeficiency, common variable, 2
- R8K (p.Arg8Lys), rs1400728221, ClinGen CA398520653, ClinVar RCV002939507, gnomAD rs1400728221, REVEL 0.16, CADD 6.29, Uncertain significance, Inborn genetic diseases
- R9* (p.Arg9Ter), rs1383649750, ClinGen CA398520647, ClinVar RCV001945527, gnomAD rs1383649750, CADD 34.00, Pathogenic
- R9L (p.Arg9Leu), ExAC rs772399974, TOPMed rs772399974, gnomAD rs772399974, REVEL 0.35, CADD 8.17, Uncertain significance
- R9Q (p.Arg9Gln), rs772399974, ClinGen CA8414167, cosmic curated COSV10723, ClinVar RCV001302820, REVEL 0.16, CADD 2.02, Uncertain significance, Immunodeficiency, common variable, 2; Inborn genetic diseases
- G10D (p.Gly10Asp), ExAC rs746052120, TOPMed rs746052120, gnomAD rs746052120, REVEL 0.34, CADD 14.00
- R12L (p.Arg12Leu), ExAC rs754315707, TOPMed rs754315707, gnomAD rs754315707, REVEL 0.20, CADD 12.60, Uncertain significance
- R12Q (p.Arg12Gln), rs754315707, ClinGen CA8414163, ClinVar RCV001885615, ClinVar RCV004040673, REVEL 0.28, CADD 13.50, Uncertain significance, Inborn genetic diseases; Immunodeficiency, common variable, 2
- R12W (p.Arg12Trp), rs779924436, ClinGen CA8414164, ClinVar RCV001871204, ClinVar RCV002077340, REVEL 0.28, CADD 11.70, Uncertain significance, Inborn genetic diseases; Immunodeficiency, common variable, 2; Immunoglobulin A
- S13G (p.Ser13Gly), TOPMed rs1452918381, REVEL 0.20, CADD 13.20
- S13N (p.Ser13Asn), ExAC rs778241634, gnomAD rs778241634, REVEL 0.15, CADD 2.93
- R14C (p.Arg14Cys), rs370503383, ClinGen CA8414159, cosmic curated COSV55428, ClinVar RCV001304885, REVEL 0.28, CADD 16.90, Uncertain significance, Immunodeficiency, common variable, 2
- R14G (p.Arg14Gly), rs370503383, ClinGen CA8414160, ClinVar RCV003088360, ClinVar RCV004963431, REVEL 0.18, CADD 9.90, Uncertain significance, Immunodeficiency, common variable, 2; Inborn genetic diseases
- R14H (p.Arg14His), rs200309474, ClinGen CA8414157, ClinVar RCV001212835, ClinVar RCV001811468, REVEL 0.40, CADD 6.66, Conflicting interpretations, not provided; not specified; Immunodeficiency, common variable, 2
- R14L (p.Arg14Leu), rs200309474, ClinGen CA8414158, ClinVar RCV001220398, ClinVar RCV001751422, REVEL 0.30, CADD 5.34, Uncertain significance, Immunodeficiency, common variable, 2; not provided
- V15E (p.Val15Glu), gnomAD rs1282747397, REVEL 0.23, CADD 0.72
- Q17* (p.Gln17Ter), rs764951604, NCI-TCGA Cosmic COSV5542, cosmic curated COSV55428, ExAC rs764951604, CADD 35.00, Variant assessed as somatic; high impact.
- Q17E (p.Gln17Glu), ExAC rs764951604, gnomAD rs764951604, REVEL 0.18, CADD 3.52
- E18G (p.Glu18Gly), rs1597672265, ClinGen CA398520596, cosmic curated COSV10506, ClinVar RCV000788280, REVEL 0.28, CADD 21.30, Uncertain significance, Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not provide
- E19K (p.Glu19Lys), rs1232982545, ClinGen CA398520590, cosmic curated COSV10723, ClinVar RCV003088649, REVEL 0.18, CADD 11.70, Uncertain significance, Immunodeficiency, common variable, 2
- R20C (p.Arg20Cys), rs200013015, ClinGen CA8414154, ClinVar RCV000700484, ClinVar RCV001171924, REVEL 0.29, CADD 13.10, Uncertain significance, Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not specifi
- R20H (p.Arg20His), rs768682333, ClinGen CA8414153, NCI-TCGA Cosmic COSV5542, cosmic curated COSV55426, REVEL 0.25, CADD 8.40, Uncertain significance, Immunodeficiency, common variable, 2
- R20S (p.Arg20Ser), 1000Genomes rs200013015, ESP rs200013015, ExAC rs200013015, TOPMed rs200013015, REVEL 0.17, CADD 3.95, Uncertain significance
- P22L (p.Pro22Leu), TOPMed rs1000091022
- P22S (p.Pro22Ser), TOPMed rs1221013886, REVEL 0.45, CADD 22.30
- Q23R (p.Gln23Arg), gnomAD rs1409221013, REVEL 0.40, CADD 24.10
- G24C (p.Gly24Cys), NCI-TCGA Cosmic COSV9989, cosmic curated COSV99891, Variant assessed as somatic; moderate impact.
- G24D (p.Gly24Asp), gnomAD rs1156339689, REVEL 0.40, CADD 16.10
- G24S (p.Gly24Ser), ExAC rs774505373, TOPMed rs774505373, gnomAD rs774505373, REVEL 0.49, CADD 22.30
- L25P (p.Leu25Pro), ExAC rs534147180, gnomAD rs534147180, REVEL 0.24, CADD 15.70, Uncertain significance, Inborn genetic diseases
- W26* (p.Trp26Ter), gnomAD rs1193135301, CADD 36.00
- W26R (p.Trp26Arg), rs773591883, ClinGen CA8414125, ClinVar RCV000698824, ExAC rs773591883, REVEL 0.21, CADD 13.00, Uncertain significance, Immunodeficiency, common variable, 2
- T27R (p.Thr27Arg), ExAC rs770108193, gnomAD rs770108193, REVEL 0.21, CADD 1.26, Uncertain significance, Inborn genetic diseases
- T27T (p.Thr27Thr), rs8072293, Benign
- G28E (p.Gly28Glu), rs1364325591, ClinGen CA398520524, ClinVar RCV001373102, TOPMed rs1364325591, REVEL 0.25, CADD 13.10, Uncertain significance, Immunodeficiency, common variable, 2
- G28R (p.Gly28Arg), gnomAD rs1205656896, REVEL 0.24, CADD 9.16
- V29L (p.Val29Leu), TOPMed rs1409789148, gnomAD rs1409789148, REVEL 0.19, CADD 1.53
- V29M (p.Val29Met), cosmic curated COSV55428, TOPMed rs1409789148, gnomAD rs1409789148, REVEL 0.20, CADD 2.53
- A30S (p.Ala30Ser), TOPMed rs1400914097, gnomAD rs1400914097, REVEL 0.40, CADD 17.70
- A30V (p.Ala30Val), gnomAD rs1271970429, REVEL 0.54, CADD 23.80
- M31I (p.Met31Ile), NCI-TCGA Cosmic COSV5542, cosmic curated COSV55429, ExAC rs745349768, gnomAD rs745349768, REVEL 0.56, CADD 23.10, Variant assessed as somatic; moderate impact.
- M31K (p.Met31Lys), ExAC rs757910034, gnomAD rs757910034, REVEL 0.73, CADD 23.70
- M31R (p.Met31Arg), ExAC rs757910034, gnomAD rs757910034, REVEL 0.71, CADD 23.90
- M31T (p.Met31Thr), ExAC rs757910034, gnomAD rs757910034, REVEL 0.69, CADD 23.30
- M31V (p.Met31Val), rs368391092, ClinGen CA8414121, ClinVar RCV002918565, ClinVar RCV004750218, REVEL 0.62, CADD 22.90, Uncertain significance, Immunodeficiency, common variable, 2
- R32K (p.Arg32Lys), gnomAD rs1187057439
- R32S (p.Arg32Ser), rs2508218579, ClinGen CA398520497, ClinVar RCV002885875, Uncertain significance, Immunodeficiency, common variable, 2
- S33F (p.Ser33Phe), NCI-TCGA Cosmic COSV5542, cosmic curated COSV55426, Variant assessed as somatic; moderate impact.
- C34* (p.Cys34Ter), rs756955033, ClinGen CA398520485, ClinVar RCV001809180, ExAC rs756955033, Likely pathogenic
- C34F (p.Cys34Phe), ExAC rs778477333, gnomAD rs778477333, REVEL 0.74, CADD 24.20
- C34Y (p.Cys34Tyr), NCI-TCGA TCGA novel, REVEL 0.74, CADD 24.00, Variant assessed as somatic; moderate impact.
- P35T (p.Pro35Thr), rs753500225, ExAC rs753500225, gnomAD rs753500225, REVEL 0.43, CADD 20.40, Variant assessed as somatic; moderate impact.
- E36K (p.Glu36Lys), rs143099385, ClinGen CA8414114, cosmic curated COSV10455, ClinVar RCV003506584, REVEL 0.29, CADD 16.40, Uncertain significance, Immunodeficiency, common variable, 2
- E37G (p.Glu37Gly), 1000Genomes rs2143662592, REVEL 0.61, CADD 27.60
- E37Q (p.Glu37Gln), rs752740455, ClinGen CA8414112, ClinVar RCV003855144, ExAC rs752740455, REVEL 0.38, CADD 24.00, Uncertain significance, Immunodeficiency, common variable, 2
- Q38* (p.Gln38Ter), 1000Genomes rs147891155
- Y39C (p.Tyr39Cys), gnomAD rs1395976297, REVEL 0.71, CADD 25.00
- W40* (p.Trp40Ter), ExAC rs759576194, gnomAD rs759576194, CADD 36.00
- W40R (p.Trp40Arg), rs72553874, ClinGen CA8414111, ClinVar RCV000989758, ClinVar RCV003151825, REVEL 0.85, CADD 25.20, Uncertain significance, Immunodeficiency, common variable, 2; not provided; Immunoglobulin A deficiency
- D41G (p.Asp41Gly), rs763197017, ClinGen CA8414107, ClinVar RCV001361513, ClinVar RCV004770099, REVEL 0.82, CADD 24.40, Uncertain significance, not provided; not specified; Immunodeficiency, common variable, 2
- D41H (p.Asp41His), rs67951770, ClinGen CA8414109, ClinVar RCV001957681, ClinVar RCV003892984, REVEL 0.83, CADD 23.60, Uncertain significance, not provided; Immunodeficiency, common variable, 2
- D41N (p.Asp41Asn), rs67951770, ClinGen CA8414108, ClinVar RCV002046540, 1000Genomes rs67951770, REVEL 0.65, CADD 23.50, Uncertain significance, Immunodeficiency, common variable, 2
- P42H (p.Pro42His), ExAC rs770198071, gnomAD rs770198071, REVEL 0.27, CADD 14.50
- P42L (p.Pro42Leu), rs770198071, NCI-TCGA Cosmic COSV9989, cosmic curated COSV99891, ExAC rs770198071, REVEL 0.26, CADD 9.14, Variant assessed as somatic; moderate impact.
- P42S (p.Pro42Ser), NCI-TCGA Cosmic COSV5542, cosmic curated COSV55427, Variant assessed as somatic; moderate impact.
- P42T (p.Pro42Thr), 1000Genomes rs531640813, ExAC rs531640813, TOPMed rs531640813, gnomAD rs531640813, REVEL 0.35, CADD 1.32
- L44P (p.Leu44Pro), rs1485786201, ClinGen CA398520424, ClinVar RCV002667237, ClinVar RCV005288791, REVEL 0.54, CADD 22.80, Uncertain significance, Immunodeficiency, common variable, 2; Inborn genetic diseases
- G45A (p.Gly45Ala), ExAC rs777041889, gnomAD rs777041889, REVEL 0.24, CADD 1.64
- G45C (p.Gly45Cys), NCI-TCGA Cosmic COSV5542, cosmic curated COSV55427, Variant assessed as somatic; moderate impact.
- T46A (p.Thr46Ala), cosmic curated COSV55426, gnomAD rs1446669063, REVEL 0.14, CADD 0.93
- T46I (p.Thr46Ile), Ensembl rs2087596042
- C47* (p.Cys47Ter), TOPMed rs1002042381, gnomAD rs1002042381, CADD 32.00, Uncertain significance
- C47R (p.Cys47Arg), ExAC rs769182186, TOPMed rs769182186, gnomAD rs769182186, REVEL 0.81, CADD 23.70
- C47S (p.Cys47Ser), ExAC rs769182186, TOPMed rs769182186, gnomAD rs769182186, REVEL 0.81, CADD 23.10
- M48V (p.Met48Val), Ensembl rs2087595924, REVEL 0.22, CADD 0.01, Uncertain significance, Inborn genetic diseases
- S49F (p.Ser49Phe), rs1013908503, ClinGen CA288291027, ClinVar RCV002770126, ClinVar RCV004064662, REVEL 0.70, CADD 22.60, Uncertain significance, Immunodeficiency, common variable, 2; Inborn genetic diseases
- S49P (p.Ser49Pro), rs374547688, ClinGen CA8414100, ClinVar RCV000768342, ClinVar RCV001066871, REVEL 0.42, CADD 13.90, Conflicting interpretations, Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2
- C50G (p.Cys50Gly), ExAC rs778514858, TOPMed rs778514858, gnomAD rs778514858
- C50R (p.Cys50Arg), ExAC rs778514858, TOPMed rs778514858, gnomAD rs778514858, REVEL 0.88, CADD 23.70
- C50S (p.Cys50Ser), rs1348604020, ClinGen CA398520389, ClinVar RCV003082507, TOPMed rs1348604020, REVEL 0.85, CADD 23.40, Uncertain significance, Immunodeficiency, common variable, 2
- C50Y (p.Cys50Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T52I (p.Thr52Ile), rs1294881198, ClinGen CA398520372, ClinVar RCV001228433, gnomAD rs1294881198, REVEL 0.24, CADD 6.94, Uncertain significance, Immunodeficiency, common variable, 2
- H56N (p.His56Asn), UniProt VAR 064758, Uncertain significance
- H56Y (p.His56Tyr), gnomAD rs2087595725, REVEL 0.23, CADD 3.41
- Q57H (p.Gln57His), rs149084717, ClinGen CA8414097, ClinVar RCV001053659, ClinVar RCV001531259, REVEL 0.22, CADD 20.70, Conflicting interpretations, TNFRSF13B-related disorder; not provided; Immunodeficiency, common variable, 2
- Q57L (p.Gln57Leu), TOPMed rs1330654104, REVEL 0.31, CADD 18.10
- R60C (p.Arg60Cys), rs777555444, ClinGen CA8414096, ClinVar RCV000822832, ClinVar RCV004693396, REVEL 0.33, CADD 23.10, Uncertain significance, Immunodeficiency, common variable, 2; not provided
- R60H (p.Arg60His), rs373134429, ClinGen CA8414095, cosmic curated COSV55429, NCI-TCGA Cosmic COSV9989, REVEL 0.14, CADD 11.80, Uncertain significance, Immunodeficiency, common variable, 2; Inborn genetic diseases
- R60L (p.Arg60Leu), NCI-TCGA Cosmic COSV9989, cosmic curated COSV99891, Variant assessed as somatic; moderate impact.
- R60P (p.Arg60Pro), ESP rs373134429, ExAC rs373134429, TOPMed rs373134429, gnomAD rs373134429, REVEL 0.49, CADD 21.50, Uncertain significance
- R60S (p.Arg60Ser), ExAC rs777555444, TOPMed rs777555444, gnomAD rs777555444, REVEL 0.23, CADD 17.00, Uncertain significance, Inborn genetic diseases
- T61I (p.Thr61Ile), rs752511316, ClinGen CA8414094, cosmic curated COSV55430, ClinVar RCV001764835, REVEL 0.30, CADD 16.40, Uncertain significance, Immunodeficiency, common variable, 2; not provided
- C62Y (p.Cys62Tyr), TOPMed rs1410473109, gnomAD rs1410473109, REVEL 0.74, CADD 24.10
- A63T (p.Ala63Thr), NCI-TCGA Cosmic COSV5542, cosmic curated COSV55426, REVEL 0.26, CADD 7.75, Variant assessed as somatic; moderate impact.
- A63V (p.Ala63Val), Ensembl rs2143662367
- A64G (p.Ala64Gly), ESP rs145002378, ExAC rs145002378, TOPMed rs145002378, gnomAD rs145002378, REVEL 0.25, CADD 19.70
- A64T (p.Ala64Thr), Ensembl rs1567653278
- C66* (p.Cys66Ter), rs144718007, ClinGen CA8414090, ClinVar RCV001043041, ClinVar RCV001254048, CADD 36.00, Pathogenic
- C66S (p.Cys66Ser), ExAC rs751382736, TOPMed rs751382736, gnomAD rs751382736, REVEL 0.78, CADD 24.30, Uncertain significance, Inborn genetic diseases
- R67M (p.Arg67Met), gnomAD rs1363140258, REVEL 0.36, CADD 24.20
- R67S (p.Arg67Ser), rs886052653, ClinGen CA10639005, ClinVar RCV002521095, TOPMed rs886052653, REVEL 0.29, CADD 22.20, Uncertain significance, Inborn genetic diseases
- L69F (p.Leu69Phe), 1000Genomes rs562284274, ExAC rs562284274, gnomAD rs562284274, REVEL 0.47, CADD 22.40
- S70C (p.Ser70Cys), gnomAD rs1390711436, REVEL 0.40, CADD 23.00
- S70G (p.Ser70Gly), gnomAD rs1390711436, REVEL 0.29, CADD 16.10
- R72C (p.Arg72Cys), rs375514495, ClinGen CA8414068, cosmic curated COSV55430, ClinVar RCV001043027, REVEL 0.47, CADD 24.00, Uncertain significance, Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not provide
- R72H (p.Arg72His), rs55916807, ClinGen CA8414067, ClinVar RCV000441515, ClinVar RCV000762233, REVEL 0.50, AlphaMissense 0.18, Likely benign, Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not specifi
- R72L (p.Arg72Leu), rs55916807, ClinGen CA398520228, ClinVar RCV002015560, 1000Genomes rs55916807, AlphaMissense 0.18, MetaLR 0.68, Uncertain significance, Immunodeficiency, common variable, 2
- E74D (p.Glu74Asp), TOPMed rs1167588510, gnomAD rs1167588510, REVEL 0.42, CADD 18.80
- E74K (p.Glu74Lys), rs764542734, cosmic curated COSV10506, ExAC rs764542734, TOPMed rs764542734, REVEL 0.56, CADD 24.00, Variant assessed as somatic; moderate impact.
- E74V (p.Glu74Val), Ensembl rs1567652328
- Q75E (p.Gln75Glu), gnomAD rs1447079785, REVEL 0.36, CADD 14.50
- G76C (p.Gly76Cys), rs146436713, ClinGen CA8414065, ClinVar RCV001984561, 1000Genomes rs146436713, REVEL 0.72, CADD 24.80, Uncertain significance, Immunodeficiency, common variable, 2
- G76D (p.Gly76Asp), rs772701872, ClinGen CA8414063, ClinVar RCV000794862, ClinVar RCV002536987, REVEL 0.67, CADD 23.00, Uncertain significance, Inborn genetic diseases; Immunodeficiency, common variable, 2
- G76S (p.Gly76Ser), rs146436713, ClinGen CA8414064, cosmic curated COSV55426, ClinVar RCV000909193, REVEL 0.66, CADD 24.40, Likely benign, Immunodeficiency, common variable, 2
- K77N (p.Lys77Asn), 1000Genomes rs371317735, ESP rs371317735, ExAC rs371317735, TOPMed rs371317735, Likely benign
- F78S (p.Phe78Ser), gnomAD rs1197261395, REVEL 0.51, CADD 22.50
- Y79* (p.Tyr79Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Y79C (p.Tyr79Cys), rs72553876, ClinGen CA8414061, ClinVar RCV000327211, ClinVar RCV000648139, REVEL 0.84, CADD 25.40, Conflicting interpretations, not specified; not provided; Immunodeficiency, common variable, 2
- Y79H (p.Tyr79His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D80G (p.Asp80Gly), 1000Genomes rs546335485, REVEL 0.82, CADD 25.40
- D80N (p.Asp80Asn), Ensembl rs2143656824
- H81N (p.His81Asn), rs769360883, ClinGen CA8414060, ClinVar RCV001990251, ExAC rs769360883, REVEL 0.26, CADD 15.70, Uncertain significance, Immunodeficiency, common variable, 2
- L82F (p.Leu82Phe), Ensembl rs2143656801
- R84K (p.Arg84Lys), ExAC rs747863360, TOPMed rs747863360, gnomAD rs747863360, REVEL 0.20, CADD 7.82, Uncertain significance
- R84S (p.Arg84Ser), rs2087569105, ClinGen CA398520148, ClinVar RCV003129066, Ensembl rs2087569105, REVEL 0.41, CADD 14.10, Uncertain significance, not provided
- R84T (p.Arg84Thr), rs747863360, ClinGen CA8414059, ClinVar RCV001352061, ClinVar RCV004692621, REVEL 0.49, CADD 15.70, Uncertain significance, not provided; Immunodeficiency, common variable, 2
- D85G (p.Asp85Gly), TOPMed rs1170456533, gnomAD rs1170456533, REVEL 0.23, CADD 11.50
- D85N (p.Asp85Asn), cosmic curated COSV55429, ExAC rs780655897, gnomAD rs780655897, REVEL 0.15, CADD 9.13
- C86S (p.Cys86Ser), rs1597661284, ClinGen CA398520134, ClinVar RCV000996501, Ensembl rs1597661284, AlphaMissense 0.95, MetaLR 0.92, Uncertain significance, not provided
- I87N (p.Ile87Asn), rs72553877, ClinGen CA8414057, ClinVar RCV000756794, ClinVar RCV000800201, REVEL 0.62, CADD 24.60, Conflicting interpretations, Common variable immunodeficiency; not provided; Immunodeficiency, common variabl
- S88G (p.Ser88Gly), gnomAD rs2087568984, REVEL 0.70, CADD 24.20, Uncertain significance, not provided
- S88N (p.Ser88Asn), rs759002769, ClinGen CA288288106, ClinVar RCV002006034, Ensembl rs759002769, REVEL 0.51, CADD 22.30, Uncertain significance, Immunodeficiency, common variable, 2
- C89Y (p.Cys89Tyr), rs746779126, ClinGen CA8414056, ClinVar RCV002263080, ClinVar RCV003101483, REVEL 0.80, CADD 24.30, Uncertain significance, not provided; Immunodeficiency, common variable, 2
- A90V (p.Ala90Val), ExAC rs780026926
- S91P (p.Ser91Pro), gnomAD rs1331029912, REVEL 0.29, CADD 15.10
- I92N (p.Ile92Asn), rs368250378, ClinGen CA8414054, ClinVar RCV001957932, ESP rs368250378, REVEL 0.48, CADD 24.80, Uncertain significance, Immunodeficiency, common variable, 2
- I92V (p.Ile92Val), gnomAD rs1322152086, REVEL 0.16, CADD 16.30
- G94E (p.Gly94Glu), NCI-TCGA Cosmic COSV5542, cosmic curated COSV55426, Variant assessed as somatic; moderate impact.
- G94R (p.Gly94Arg), 1000Genomes rs200612226, TOPMed rs200612226, gnomAD rs200612226, REVEL 0.51, CADD 25.70
- Q95* (p.Gln95Ter), ExAC rs549493928, TOPMed rs549493928, gnomAD rs549493928, CADD 39.00, Uncertain significance
- Q95E (p.Gln95Glu), rs549493928, ClinGen CA8414053, ClinVar RCV001365796, ClinVar RCV002476669, REVEL 0.43, CADD 22.70, Uncertain significance, Immunodeficiency, common variable, 2; not provided
- Q95K (p.Gln95Lys), ExAC rs549493928, TOPMed rs549493928, gnomAD rs549493928, REVEL 0.46, CADD 22.90, Uncertain significance
- H96P (p.His96Pro), NCI-TCGA Cosmic COSV5542, cosmic curated COSV55428, Variant assessed as somatic; moderate impact.
- H96Q (p.His96Gln), ExAC rs778997868, gnomAD rs778997868, REVEL 0.73, CADD 22.90, Uncertain significance
- H96Y (p.His96Tyr), TOPMed rs1306985017, gnomAD rs1306985017, REVEL 0.73, CADD 24.70
- P97R (p.Pro97Arg), rs754139414, ClinGen CA8414050, ClinVar RCV000648140, ClinVar RCV000996500, REVEL 0.76, CADD 25.00, Uncertain significance, not provided; Immunodeficiency, common variable, 2
- P97S (p.Pro97Ser), ExAC rs757279559, gnomAD rs757279559, REVEL 0.68, CADD 24.00
- Q99K (p.Gln99Lys), TOPMed rs2087568550, REVEL 0.50, CADD 23.70, Uncertain significance, Inborn genetic diseases
- Q99P (p.Gln99Pro), gnomAD rs1375800035, REVEL 0.50, CADD 15.30
- C100R (p.Cys100Arg), TOPMed rs1364344942, REVEL 0.74, CADD 24.30
- C100Y (p.Cys100Tyr), 1000Genomes rs75885572, ExAC rs75885572, REVEL 0.58, CADD 23.50
- A101E (p.Ala101Glu), TOPMed rs1310977376, gnomAD rs1310977376, REVEL 0.26, CADD 13.20
- A101S (p.Ala101Ser), TOPMed rs2087568342, REVEL 0.22, CADD 5.55
- A101T (p.Ala101Thr), TOPMed rs2087568342
- A101V (p.Ala101Val), TOPMed rs1310977376, gnomAD rs1310977376
- Y102* (p.Tyr102Ter), rs774955611, ClinGen CA8414043, ClinVar RCV002765802, ExAC rs774955611, CADD 34.00, Pathogenic
- Y102C (p.Tyr102Cys), rs2508206711, ClinGen CA2695201252, ClinVar RCV003391570, REVEL 0.41, CADD 22.80, Uncertain significance, Inborn genetic diseases
- Y102H (p.Tyr102His), rs767933010, ClinGen CA398520034, ClinVar RCV001305651, ExAC rs767933010, REVEL 0.27, CADD 4.05, Uncertain significance, Immunodeficiency, common variable, 2
- Y102N (p.Tyr102Asn), ExAC rs767933010, TOPMed rs767933010, gnomAD rs767933010, REVEL 0.42, CADD 15.90, Uncertain significance
- Y102X, rs774955611, []
- F103L (p.Phe103Leu), rs1201043139, ClinGen CA398520023, ClinVar RCV002589466, gnomAD rs1201043139, REVEL 0.52, CADD 23.40, Uncertain significance, Immunodeficiency, common variable, 2
- F103S (p.Phe103Ser), ExAC rs764858993, gnomAD rs764858993, REVEL 0.70, CADD 25.10
- C104R (p.Cys104Arg), rs34557412, ClinGen CA117387, cosmic curated COSV55430, ClinVar RCV000005623, REVEL 0.92, CADD 25.80, Conflicting classifications of pathogenicity; ri, TNFRSF13B-related disorder; Immune deficiency, familial variable; Common variabl
- C104W (p.Cys104Trp), TOPMed rs1486612247, gnomAD rs1486612247, REVEL 0.83, CADD 23.80
- C104Y (p.Cys104Tyr), rs72553879, ClinGen CA8414040, ClinVar RCV000799248, ClinVar RCV002283512, REVEL 0.88, CADD 24.70, Pathogenic/Likely pathogenic, TNFRSF13B-related disorder; Immunodeficiency, common variable, 2; not provided
- E105K (p.Glu105Lys), cosmic curated COSV10723, ExAC rs768185098, TOPMed rs768185098, gnomAD rs768185098, REVEL 0.57, CADD 25.00
- N106S (p.Asn106Ser), rs2087567988, ClinGen CA398520005, ClinVar RCV001068116, Ensembl rs2087567988, AlphaMissense 0.16, MetaLR 0.53, Uncertain significance, Immunodeficiency, common variable, 2
- K107R (p.Lys107Arg), TOPMed rs2087567969
- L108F (p.Leu108Phe), gnomAD rs1214363861, REVEL 0.18, CADD 1.64
Public TNFRSF13B analysis runs
- TNFRSF13B analysis run — TNFRSF13B (699 variants) — completed 2026-08-22