RAG2 (P55895) variants and mutations
RAG2 (also known as P55895) is a human protein-coding gene encoding a v(D)J recombination-activating protein 2 protein. Together with RAG1, it restricts and activates V(D)J recombination during lymphocyte development so immunoglobulin and T-cell receptor genes can be assembled. Biallelic loss-of-function variants cause severe combined immunodeficiency or hypomorphic immune-dysregulation syndromes. This analysis covers 1,330 RAG2 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n, combined immunodeficiency with skin granulomas, and Omenn syndrome. Example RAG2 variants include M1?, M1T, and M1V.
Variant analysis overview
- Gene: RAG2
- Protein: P55895
- UniProt accession: P55895
- Organism: Homo sapiens
- Variants analyzed: 1330
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 864 unspecified-consequence records; 2 stop lost; 1 stop retained variant; 179 synonymous variants; 7 in-frame deletions; 222 missense variants; 40 frameshift variants; 9 stop-gained variants; 3 in-frame insertions; 3 substitution
- Prediction scores: 984 variants have prediction scores (74% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n, combined immunodeficiency with skin granulomas, Omenn syndrome, recombinase activating gene 2 deficiency, histiocytic medullary reticulosis, severe combined immunodeficiency, T-B+ severe combined immunodeficiency, T-B- severe combined immunodeficiency, inborn error of immunity, T-B+ severe combined immunodeficiency due to JAK3 deficiency, rag2 deficiency, common variable immunodeficiency.
Protein structure and variant hotspots
- Protein features: 8 binding sites.
- Experimental data: 77 protein positions have experimental scores. Source: RAG2 Recombination activating protein 2, PHD domain domainome 1.0.
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 RAG2 variants
Examples include M1?, M1T, M1V, S2C, Q4H, M5K, M5L, M5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV57558
- M1T (p.Met1Thr), rs1554947410, ClinGen CA380145372, ClinVar RCV000579362, ClinVar RCV000681570, MetaLR 0.93, MetaSVM 0.84, Uncertain significance, Recombinase activating gene 2 deficiency
- M1V (p.Met1Val), rs1564997814, ClinGen CA380145381, ClinVar RCV000766111, ClinVar RCV003768299, MetaLR 0.93, MetaSVM 0.74, Uncertain significance, Recombinase activating gene 2 deficiency
- S2C (p.Ser2Cys), Ensembl rs1851109523
- Q4H (p.Gln4His), Ensembl rs1851109380, REVEL 0.58, CADD 22.00
- M5K (p.Met5Lys), rs143415103, ClinGen CA5950635, ClinVar RCV000330271, ClinVar RCV000689525, REVEL 0.55, CADD 21.80, Uncertain significance, Recombinase activating gene 2 deficiency
- M5L (p.Met5Leu), rs1851109238, ClinGen CA380145283, ClinVar RCV002023203, ClinVar RCV004765365, AlphaMissense 0.13, MetaLR 0.60, Uncertain significance, Recombinase activating gene 2 deficiency
- M5R (p.Met5Arg), cosmic curated COSV57559, REVEL 0.59, CADD 24.90
- V6A (p.Val6Ala), Ensembl rs2133316645
- V6E (p.Val6Glu), cosmic curated COSV57559
- V6I (p.Val6Ile), rs1851108946, ClinGen CA380145263, ClinVar RCV003782744, TOPMed rs1851108946, AlphaMissense 0.08, MetaLR 0.56, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- T7A (p.Thr7Ala), rs1851108814, ClinGen CA380145244, ClinVar RCV001278476, ClinVar RCV004765352, AlphaMissense 0.08, MetaLR 0.72, Uncertain significance, Recombinase activating gene 2 deficiency
- V8I (p.Val8Ile), rs150762709, ClinGen CA293055, cosmic curated COSV57558, ClinVar RCV000277572, REVEL 0.17, CADD 16.20, Likely benign, Recombinase activating gene 2 deficiency
- S9G (p.Ser9Gly), rs1851108332, ClinGen CA380145206, ClinVar RCV002047019, ClinVar RCV004765359, REVEL 0.30, CADD 11.80, Uncertain significance, Recombinase activating gene 2 deficiency
- S9R (p.Ser9Arg), cosmic curated COSV10027
- N11K (p.Asn11Lys), TOPMed rs1851108087
- N11S (p.Asn11Ser), ExAC rs780060712, gnomAD rs780060712, REVEL 0.19, CADD 17.00
- I12T (p.Ile12Thr), rs146584017, ClinGen CA5950633, ClinVar RCV000695159, ClinVar RCV004765335, REVEL 0.41, CADD 15.40, Uncertain significance, Recombinase activating gene 2 deficiency
- I12V (p.Ile12Val), TOPMed rs1851107952
- L14* (p.Leu14Ter), rs2494800701, ClinVar RCV004574689, Likely pathogenic
- I15M (p.Ile15Met), TOPMed rs1370226724, gnomAD rs1370226724, REVEL 0.33, CADD 21.30
- Q16H (p.Gln16His), rs1234922828, ClinGen CA380145022, cosmic curated COSV57558, ClinVar RCV002850541, AlphaMissense 0.36, MetaLR 0.86, Uncertain significance, Recombinase activating gene 2 deficiency
- P17A (p.Pro17Ala), TOPMed rs1851107367, REVEL 0.70, CADD 23.80
- P17L (p.Pro17Leu), Ensembl rs1851107233
- P17T (p.Pro17Thr), cosmic curated COSV57558, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- G18A (p.Gly18Ala), TOPMed rs1851106893, gnomAD rs1851106893, REVEL 0.81, CADD 24.70, Pathogenic
- G18D (p.Gly18Asp), cosmic curated COSV10027
- G18V (p.Gly18Val), rs1851106893, ClinGen CA380144975, ClinVar RCV001063225, ClinVar RCV004765346, REVEL 0.82, CADD 25.00, Uncertain significance, Recombinase activating gene 2 deficiency
- F19C (p.Phe19Cys), ESP rs142852996, ExAC rs142852996, gnomAD rs142852996
- S20L (p.Ser20Leu), ExAC rs767174819
- M22I (p.Met22Ile), gnomAD rs1851106233, REVEL 0.38, CADD 22.70
- M22T (p.Met22Thr), rs1851106331, ClinGen CA380144877, ClinVar RCV003793289, Ensembl rs1851106331, REVEL 0.52, CADD 23.20, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- N23D (p.Asn23Asp), cosmic curated COSV57557, TOPMed rs1305359808, gnomAD rs1305359808, REVEL 0.15, CADD 18.80
- N23S (p.Asn23Ser), rs751073669, ClinGen CA5950626, ClinVar RCV000815023, ClinVar RCV004765339, REVEL 0.26, CADD 22.30, Uncertain significance, Recombinase activating gene 2 deficiency
- F24L (p.Phe24Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D25G (p.Asp25Gly), rs1851105950, ClinGen CA380144809, ClinVar RCV001107101, ClinVar RCV001107102, REVEL 0.23, CADD 22.70, Uncertain significance, Recombinase activating gene 2 deficiency
- D25H (p.Asp25His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G26A (p.Gly26Ala), rs1851105838, ClinGen CA380144800, ClinVar RCV001278475, ClinVar RCV004765351, AlphaMissense 0.30, MetaLR 0.70, Uncertain significance, Recombinase activating gene 2 deficiency
- G26E (p.Gly26Glu), TOPMed rs1851105838, REVEL 0.46, AlphaMissense 0.30, Uncertain significance
- Q27R (p.Gln27Arg), rs1851105662, ClinGen CA380144776, cosmic curated COSV57560, ClinVar RCV001325889, AlphaMissense 0.09, MetaLR 0.48, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- F30L (p.Phe30Leu), TOPMed rs1851105577, REVEL 0.27, CADD 19.40
- F31K (p.Phe31Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- F31S (p.Phe31Ser), Ensembl rs1851105495, REVEL 0.84, CADD 28.80
- G32E (p.Gly32Glu), rs1224542443, ClinGen CA380144682, ClinVar RCV003058303, ClinVar RCV006262341, REVEL 0.85, AlphaMissense 0.99, Pathogenic/Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- G32V (p.Gly32Val), rs1224542443, ClinGen CA380144678, ClinVar RCV002586200, ClinVar RCV003991483, AlphaMissense 0.99, MetaLR 0.86, Uncertain significance, Recombinase activating gene 2 deficiency
- Q33* (p.Gln33Ter), Ensembl rs866757104, CADD 37.00
- Q33E (p.Gln33Glu), Ensembl rs866757104
- Q33H (p.Gln33His), cosmic curated COSV57560, REVEL 0.51, CADD 13.50
- G35A (p.Gly35Ala), rs148508754, ClinGen CA214209, ClinVar RCV000030395, ClinVar RCV000681571, REVEL 0.90, CADD 24.40, Pathogenic, Recombinase activating gene 2 deficiency
- G35R (p.Gly35Arg), cosmic curated COSV10732
- G35S (p.Gly35Ser), rs2494799990, ClinGen CA380144633, ClinVar RCV003785398, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- G35V (p.Gly35Val), rs148508754, ClinGen CA380144622, cosmic curated COSV10942, ClinVar RCV000681572, REVEL 0.89, CADD 24.80, Pathogenic/Likely pathogenic, RAG2-related disorder; Severe combined immunodeficiency disease; Combined immuno
- G35D (p.Gly35Asp), gnomAD 11-36594065-C-T, REVEL 0.85, CADD 24.80
- W36C (p.Trp36Cys), gnomAD 11-36594059-GGC-G, CADD 29.80
- P37L (p.Pro37Leu), rs1851104914, ClinGen CA380144592, ClinVar RCV001331310, ClinVar RCV003227961, AlphaMissense 0.92, MetaLR 0.93, Conflicting interpretations, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- P37S (p.Pro37Ser), rs2494799911, ClinGen CA380144599, ClinVar RCV003797175, REVEL 0.89, CADD 26.40, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- R39* (p.Arg39Ter), cosmic curated COSV10813
- R39G (p.Arg39Gly), rs121917897, ClinGen CA122867, ClinVar RCV000014017, ClinVar RCV000014018, AlphaMissense 0.95, MetaLR 0.92, Pathogenic, Recombinase activating gene 2 deficiency
- R39I (p.Arg39Ile), rs2133316269, ClinGen CA380144570, ClinVar RCV001918584, Ensembl rs2133316269, REVEL 0.92, CADD 26.80, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- R39K (p.Arg39Lys), cosmic curated COSV10514
- S40F (p.Ser40Phe), rs762460908, ClinGen CA380144555, ClinVar RCV003045435, AlphaMissense 0.31, MetaLR 0.89, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- S40Y (p.Ser40Tyr), rs762460908, ClinGen CA5950623, ClinVar RCV001874700, ExAC rs762460908, REVEL 0.87, AlphaMissense 0.31, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- S40P (p.Ser40Pro), gnomAD 11-36594051-A-G, REVEL 0.90, CADD 25.00
- C41W (p.Cys41Trp), rs121917895, ClinGen CA122857, ClinVar RCV000014012, ClinVar RCV000681574, AlphaMissense 0.97, MetaLR 0.91, Pathogenic/Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- C41Y (p.Cys41Tyr), rs2494799758, ClinGen CA380144546, ClinVar RCV002577362, REVEL 0.95, CADD 26.10, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- C41C (p.Cys41Cys), rs121917895, gnomAD 11-36594046-G-A, AlphaMissense 0.97, MetaLR 0.91
- C41A (p.Cys41Ala), gnomAD 11-36594048-AG-A, CADD 24.10
- P42L (p.Pro42Leu), rs2133316235, ClinGen CA380144524, ClinVar RCV001367448, Ensembl rs2133316235, AlphaMissense 0.74, MetaLR 0.88, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- P42S (p.Pro42Ser), TOPMed rs1851104418
- P42P (p.Pro42Pro), gnomAD 11-36594043-G-A, CADD 6.45
- T43T (p.Thr43Thr), gnomAD 11-36594040-A-G, CADD 10.10
- T43I (p.Thr43Ile), gnomAD 11-36594041-G-A, REVEL 0.86, CADD 26.60
- G44* (p.Gly44Ter), rs1440633758, ClinGen CA380144505, ClinVar RCV001943182, ClinVar RCV003401875, CADD 36.00, Pathogenic
- G44R (p.Gly44Arg), TOPMed rs1440633758, gnomAD rs1440633758, REVEL 0.88, CADD 25.90, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- G44G (p.Gly44Gly), gnomAD 11-36594037-T-C, CADD 11.70
- V45I (p.Val45Ile), rs770312622, ClinGen CA5950621, ClinVar RCV001896453, ClinVar RCV004041465, REVEL 0.21, CADD 19.20, Uncertain significance, Inborn genetic diseases; Combined immunodeficiency with skin granulomas; Severe
- V45C (p.Val45Cys), rs1397294905, gnomAD 11-36594022-ATCCA, CADD 28.40
- F46V (p.Phe46Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H47L (p.His47Leu), rs776913146, ClinGen CA5950619, ClinVar RCV000299706, ClinVar RCV000356700, REVEL 0.32, CADD 14.60, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- H47Q (p.His47Gln), rs768914369, ExAC rs768914369, TOPMed rs768914369, gnomAD rs768914369, REVEL 0.29, CADD 11.40, Uncertain significance, Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r
- H47Y (p.His47Tyr), TOPMed rs1460496199, gnomAD rs1460496199, REVEL 0.27, CADD 17.70
- H47R (p.His47Arg), gnomAD 11-36594029-T-C, REVEL 0.30, CADD 17.00
- L48P (p.Leu48Pro), ExAC rs747263600, gnomAD rs747263600, REVEL 0.69, CADD 23.20
- L48Q (p.Leu48Gln), ExAC rs747263600, gnomAD rs747263600
- L48V (p.Leu48Val), Ensembl rs767119176, REVEL 0.17, CADD 4.61
- D49A (p.Asp49Ala), cosmic curated COSV57558, ESP rs370447243, ExAC rs370447243, TOPMed rs370447243, REVEL 0.53, CADD 22.90
- D49H (p.Asp49His), NCI-TCGA Cosmic COSV5755, cosmic curated COSV57557, Variant assessed as somatic; moderate impact.
- V50A (p.Val50Ala), Ensembl rs1851103131
- V50I (p.Val50Ile), cosmic curated COSV57559, REVEL 0.19, CADD 0.27, Uncertain significance, Inborn genetic diseases
- V50L (p.Val50Leu), Ensembl rs1851103230
- K51N (p.Lys51Asn), rs772223078, NCI-TCGA Cosmic COSV5755, cosmic curated COSV57556, REVEL 0.50, CADD 13.40, Likely benign
- K51K (p.Lys51Lys), rs772223078, gnomAD 11-36594016-C-T, CADD 0.84
- K51R (p.Lys51Arg), gnomAD 11-36594017-T-C, REVEL 0.70, CADD 24.10
- H52N (p.His52Asn), TOPMed rs894675190
- H52Q (p.His52Gln), rs1851102640, ClinGen CA380144386, ClinVar RCV003069138, gnomAD rs1851102640, REVEL 0.25, CADD 1.13, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- H52R (p.His52Arg), TOPMed rs1355385984, REVEL 0.25, CADD 13.10, Uncertain significance, Inborn genetic diseases
- H52Y (p.His52Tyr), gnomAD 11-36594015-G-A, REVEL 0.33, CADD 17.20
- N53H (p.Asn53His), rs774097244, ClinGen CA5950614, ClinVar RCV001240231, ClinVar RCV001836205, REVEL 0.41, CADD 21.90, Uncertain significance, Inborn genetic diseases; Severe combined immunodeficiency, autosomal recessive
- N53K (p.Asn53Lys), cosmic curated COSV57556
- H54D (p.His54Asp), cosmic curated COSV10732
- H54R (p.His54Arg), rs377416657, ClinGen CA220580698, ClinVar RCV003051007, ESP rs377416657, REVEL 0.35, CADD 19.80, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- H54Y (p.His54Tyr), cosmic curated COSV57557, Ensembl rs1564997617
- H54H (p.His54His), rs2133316015, gnomAD 11-36594007-A-G, CADD 3.12
- V55I (p.Val55Ile), gnomAD rs1194042363, REVEL 0.19, CADD 11.70
- V55V (p.Val55Val), rs777813230, gnomAD 11-36594004-G-A, CADD 5.40
- K56T (p.Lys56Thr), Ensembl rs1349682959
- L57V (p.Leu57Val), TOPMed rs1393740586
- L57L (p.Leu57Leu), gnomAD 11-36593998-C-T, CADD 6.08
- K58K (p.Lys58Lys), rs202020106, gnomAD 11-36593995-C-T, CADD 5.00
- K58R (p.Lys58Arg), gnomAD 11-36593996-T-C, REVEL 0.24, CADD 15.80
- T60A (p.Thr60Ala), ExAC rs752522715, TOPMed rs752522715, gnomAD rs752522715, REVEL 0.27, CADD 3.32, Likely benign, Inborn genetic diseases
- T60T (p.Thr60Thr), rs1345213365, gnomAD 11-36593989-T-C, CADD 1.95
- I61V (p.Ile61Val), ExAC rs780915477, gnomAD rs780915477, REVEL 0.27, CADD 0.05
- I61I (p.Ile61Ile), gnomAD 11-36593986-A-G, CADD 8.13
- I61T (p.Ile61Thr), gnomAD 11-36593987-A-G, REVEL 0.30, CADD 12.50
- F62L (p.Phe62Leu), rs1564997563, ClinGen CA380144249, ClinVar RCV002904423, ClinGen CA380144251, AlphaMissense 0.97, MetaLR 0.86, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- F62S (p.Phe62Ser), cosmic curated COSV57556
- F62C (p.Phe62Cys), gnomAD 11-36593984-A-C, REVEL 0.96, CADD 26.20
- S63Y (p.Ser63Tyr), gnomAD rs1233958711, REVEL 0.92, CADD 25.50
- S63S (p.Ser63Ser), gnomAD 11-36593980-A-C, CADD 6.84
- S63C (p.Ser63Cys), gnomAD 11-36593981-G-C, REVEL 0.76, CADD 25.70
- S63F (p.Ser63Phe), gnomAD 11-36593981-G-A, REVEL 0.94, CADD 26.40
- K64* (p.Lys64Ter), rs2494799074, ClinGen CA2580084111, ClinVar RCV003013237, Pathogenic
- K64E (p.Lys64Glu), 1000Genomes rs535374501, ExAC rs535374501, gnomAD rs535374501, REVEL 0.52, CADD 23.70
- D65H (p.Asp65His), TOPMed rs909264507, gnomAD rs909264507, Pathogenic
- D65N (p.Asp65Asn), TOPMed rs909264507, gnomAD rs909264507, REVEL 0.50, CADD 22.30, Pathogenic
- D65Y (p.Asp65Tyr), rs909264507, ClinGen CA380144219, ClinVar RCV000489480, ClinVar RCV000681576, REVEL 0.89, CADD 25.60, Likely pathogenic, Recombinase activating gene 2 deficiency
- D65G (p.Asp65Gly), gnomAD 11-36593975-T-C, REVEL 0.81, CADD 26.40
- D65R (p.Asp65Arg), gnomAD 11-36593976-C-CAA, CADD 27.80
- S66S (p.Ser66Ser), gnomAD 11-36593971-G-C, CADD 9.07
- C67S (p.Cys67Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C67W (p.Cys67Trp), gnomAD 11-36593968-G-C, REVEL 0.87, CADD 26.00
- C67R (p.Cys67Arg), gnomAD 11-36593970-A-G, REVEL 0.87, CADD 26.80
- Y68S (p.Tyr68Ser), Ensembl rs1590716834
- Y68Y (p.Tyr68Tyr), rs1695873088, gnomAD 11-36593965-G-A, CADD 6.71
- L69F (p.Leu69Phe), TOPMed rs1390218087, gnomAD rs1390218087, REVEL 0.89, CADD 25.60
- L69I (p.Leu69Ile), cosmic curated COSV99043
- L69P (p.Leu69Pro), Ensembl rs1590716822, REVEL 0.95, CADD 28.10
- L69V (p.Leu69Val), TOPMed rs1390218087, gnomAD rs1390218087, REVEL 0.88, CADD 25.00
- L69L (p.Leu69Leu), gnomAD 11-36593962-G-T, CADD 5.10
- P70H (p.Pro70His), cosmic curated COSV57558
- P71P (p.Pro71Pro), rs751114608, gnomAD 11-36593956-A-G, CADD 12.20
- P71S (p.Pro71Ser), gnomAD 11-36593958-G-A, REVEL 0.96, CADD 26.00
- L72F (p.Leu72Phe), gnomAD rs1321187986, REVEL 0.88, CADD 25.50
- R73C (p.Arg73Cys), rs193922574, ClinGen CA214218, cosmic curated COSV57558, ClinVar RCV001059752, REVEL 0.95, CADD 28.20, Likely pathogenic, Recombinase activating gene 2 deficiency
- R73G (p.Arg73Gly), rs193922574, ClinGen CA380144113, ClinVar RCV003031080, REVEL 0.94, CADD 26.00, Likely pathogenic, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- R73H (p.Arg73His), rs762407838, ClinGen CA5950607, NCI-TCGA Cosmic COSV1002, cosmic curated COSV10027, REVEL 0.88, CADD 25.60, Pathogenic/Likely pathogenic, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Y74S (p.Tyr74Ser), cosmic curated COSV57557, ExAC rs749971416, gnomAD rs749971416, REVEL 0.42, CADD 23.80
- P75A (p.Pro75Ala), cosmic curated COSV10027, gnomAD rs1173275643, REVEL 0.85, CADD 24.30
- P75L (p.Pro75Leu), cosmic curated COSV57559
- P75P (p.Pro75Pro), gnomAD 11-36593944-T-G, CADD 9.98
- A76D (p.Ala76Asp), cosmic curated COSV57556, TOPMed rs1851099187
- A76V (p.Ala76Val), NCI-TCGA Cosmic COSV5755, cosmic curated COSV57557, Variant assessed as somatic; moderate impact.
- T77N (p.Thr77Asn), rs121918574, ClinGen CA122870, ClinVar RCV000014019, ClinVar RCV000681578, AlphaMissense 0.21, MetaLR 0.62, Likely pathogenic, Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 de
- T77S (p.Thr77Ser), gnomAD 11-36593939-G-C, REVEL 0.23, CADD 11.80
- T77I (p.Thr77Ile), gnomAD 11-36593939-G-A, REVEL 0.22, CADD 3.02
- T77A (p.Thr77Ala), gnomAD 11-36593940-T-C, REVEL 0.31, CADD 20.60
- C78Y (p.Cys78Tyr), gnomAD rs1454524571, REVEL 0.67, CADD 24.70
- C78R (p.Cys78Arg), gnomAD 11-36593937-A-G, REVEL 0.77, CADD 25.50
- T79A (p.Thr79Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T79T (p.Thr79Thr), gnomAD 11-36593932-T-C, CADD 5.15
- T79K (p.Thr79Lys), gnomAD 11-36593933-G-T, REVEL 0.19, CADD 4.98
- T79I (p.Thr79Ile), gnomAD 11-36593933-G-A, REVEL 0.20, CADD 7.28
- F80I (p.Phe80Ile), rs762369105, ClinGen CA5950604, ClinVar RCV001226095, ExAC rs762369105, REVEL 0.25, CADD 16.10, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- F80L (p.Phe80Leu), ExAC rs762369105, gnomAD rs762369105, REVEL 0.23, CADD 12.00, Uncertain significance
- F80V (p.Phe80Val), ExAC rs762369105, gnomAD rs762369105, REVEL 0.37, CADD 16.00, Uncertain significance
- K81R (p.Lys81Arg), rs777051349, ClinGen CA5950603, ClinVar RCV000819676, ClinVar RCV001825652, REVEL 0.04, CADD 12.00, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- K81K (p.Lys81Lys), gnomAD 11-36593926-T-C, CADD 6.91
- G82S (p.Gly82Ser), ExAC rs768839588, TOPMed rs768839588, gnomAD rs768839588, REVEL 0.09, CADD 3.33
- G82V (p.Gly82Val), cosmic curated COSV57557
- S83R (p.Ser83Arg), gnomAD 11-36593920-G-T, REVEL 0.29, CADD 12.60
- L84F (p.Leu84Phe), ExAC rs761118163, gnomAD rs761118163, REVEL 0.28, CADD 0.01
- L84M (p.Leu84Met), cosmic curated COSV10514
- L84L (p.Leu84Leu), rs761118163, gnomAD 11-36593917-C-T, CADD 0.23
- E85D (p.Glu85Asp), cosmic curated COSV10514
- E85Q (p.Glu85Gln), rs775526056, ClinGen CA5950600, ClinVar RCV002770893, ExAC rs775526056, REVEL 0.34, CADD 16.00, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- E85G (p.Glu85Gly), gnomAD 11-36593915-T-C, REVEL 0.25, CADD 16.50
- S86S (p.Ser86Ser), rs2133315667, gnomAD 11-36593911-A-G, CADD 7.71
- E87D (p.Glu87Asp), cosmic curated COSV10514
- E87Q (p.Glu87Gln), NCI-TCGA Cosmic COSV5755, cosmic curated COSV57559, Variant assessed as somatic; moderate impact.
Public RAG2 analysis runs
- RAG2 analysis run — RAG2 (1,330 variants) — completed 2026-08-19