RAG1 (P15918) variants and mutations
RAG1 (also known as P15918) is a human protein-coding gene encoding a v(D)J recombination-activating protein 1 protein. It initiates V(D)J recombination by cutting antigen-receptor gene segments, creating the enormous receptor diversity required for adaptive immunity. Biallelic severe loss-of-function variants cause severe combined immunodeficiency, while hypomorphic alleles can cause Omenn syndrome or combined immunodeficiency with autoimmunity. This analysis covers 1,794 RAG1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes Omenn syndrome, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n, and combined immunodeficiency with skin granulomas. Example RAG1 variants include M1V, A2T, and A2V.
Variant analysis overview
- Gene: RAG1
- Protein: P15918
- UniProt accession: P15918
- Organism: Homo sapiens
- Variants analyzed: 1794
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,307 unspecified-consequence records; 223 missense variants; 210 synonymous variants; 36 frameshift variants; 7 in-frame deletions; 9 stop-gained variants; 1 in-frame insertions; 1 substitution
- Prediction scores: 1,489 variants have prediction scores (83% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Omenn syndrome, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n, combined immunodeficiency with skin granulomas, combined immunodeficiency due to partial RAG1 deficiency, recombinase activating gene 1 deficiency, Combined immunodeficiency T+ B+ due to partial RAG1 deficiency, severe combined immunodeficiency, histiocytic medullary reticulosis, T-B+ severe combined immunodeficiency, T-B- severe combined immunodeficiency, immunodeficiency disease, tumor predisposition syndrome 3.
Protein structure and variant hotspots
- Protein features: 19 binding sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable RAG1 variants
Examples include M1V, A2T, A2V, A3V, A3P, A3A, S4P, S4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs200575481, ClinGen CA5949886, ClinVar RCV001065533, ClinVar RCV001753766, MetaLR 0.52, MetaSVM 0.11, Uncertain significance, Recombinase activating gene 1 deficiency
- A2T (p.Ala2Thr), gnomAD 11-36573308-G-A, REVEL 0.22, CADD 22.70
- A2V (p.Ala2Val), gnomAD 11-36573309-C-T, REVEL 0.13, CADD 20.90
- A3V (p.Ala3Val), NCI-TCGA TCGA novel, MetaLR 0.11, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- A3P (p.Ala3Pro), gnomAD 11-36573311-G-C, REVEL 0.15, CADD 13.20
- A3A (p.Ala3Ala), rs774066339, gnomAD 11-36573313-C-A, CADD 5.16
- S4P (p.Ser4Pro), gnomAD 11-36573314-T-C, REVEL 0.09, CADD 16.70
- S4T (p.Ser4Thr), gnomAD 11-36573314-T-A, REVEL 0.06, CADD 14.40
- F5L (p.Phe5Leu), rs745600099, ClinGen CA5949888, ClinVar RCV001246920, ClinVar RCV004765350, REVEL 0.10, MetaLR 0.08, Uncertain significance, Recombinase activating gene 1 deficiency
- F5F (p.Phe5Phe), rs745600099, gnomAD 11-36573319-C-T, CADD 5.99
- P6L (p.Pro6Leu), rs1850775921, ClinGen CA380144964, ClinVar RCV003019251, ClinVar RCV004765375, REVEL 0.16, MetaLR 0.19, Uncertain significance, Recombinase activating gene 1 deficiency
- P6S (p.Pro6Ser), TOPMed rs1422281887, gnomAD rs1422281887, REVEL 0.08, MetaLR 0.15
- P6P (p.Pro6Pro), gnomAD 11-36573322-A-C, CADD 6.04
- P7A (p.Pro7Ala), gnomAD 11-36573323-C-G, REVEL 0.04, CADD 3.70
- P7P (p.Pro7Pro), rs1171503927, gnomAD 11-36573325-C-T, CADD 2.41
- T8I (p.Thr8Ile), Ensembl rs1377547190, REVEL 0.08, MetaLR 0.14
- T8P (p.Thr8Pro), gnomAD 11-36573322-AC-A, CADD 17.00
- T8T (p.Thr8Thr), rs1478317933, gnomAD 11-36573328-C-T, CADD 1.20
- L9F (p.Leu9Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L9S (p.Leu9Ser), ExAC rs775259813, MetaLR 0.18, MetaSVM -0.96
- L9V (p.Leu9Val), rs771932715, NCI-TCGA Cosmic COSV5502, ExAC rs771932715, TOPMed rs771932715, REVEL 0.12, MetaLR 0.17, Variant assessed as somatic; moderate impact.
- L9L (p.Leu9Leu), gnomAD 11-36573329-T-C, CADD 5.88
- L9W (p.Leu9Trp), gnomAD 11-36573330-T-G, REVEL 0.27, CADD 23.00
- G10V (p.Gly10Val), rs977780517, ClinGen CA220599791, ClinVar RCV002020935, ClinVar RCV004765367, REVEL 0.17, MetaLR 0.23, Uncertain significance, Recombinase activating gene 1 deficiency
- L11F (p.Leu11Phe), Ensembl rs2133292541, REVEL 0.19, MetaLR 0.22
- L11P (p.Leu11Pro), gnomAD 11-36573336-T-C, REVEL 0.38, CADD 20.10
- L11L (p.Leu11Leu), rs1422417189, gnomAD 11-36573337-C-G, CADD 8.30
- S12N (p.Ser12Asn), TOPMed rs1463769346, gnomAD rs1463769346, REVEL 0.12, MetaLR 0.17
- S12R (p.Ser12Arg), NCI-TCGA Cosmic COSV5502, MetaLR 0.16, MetaSVM -0.89, Variant assessed as somatic; moderate impact.
- S12C (p.Ser12Cys), gnomAD 11-36573338-A-T, REVEL 0.07, CADD 20.40
- S12T (p.Ser12Thr), gnomAD 11-36573339-G-C, REVEL 0.06, CADD 13.60
- S13A (p.Ser13Ala), rs760746448, ClinGen CA5949891, ClinVar RCV000308604, ClinVar RCV000363341, REVEL 0.07, MetaLR 0.18, Uncertain significance, Recombinase activating gene 1 deficiency
- A14S (p.Ala14Ser), ExAC rs765396585, TOPMed rs765396585, gnomAD rs765396585, REVEL 0.12, MetaLR 0.24, Uncertain significance
- A14T (p.Ala14Thr), rs765396585, ClinGen CA5949893, ClinVar RCV002050837, ClinVar RCV003339760, REVEL 0.14, MetaLR 0.25, Uncertain significance, Recombinase activating gene 1 deficiency
- A14V (p.Ala14Val), gnomAD rs1435668744, REVEL 0.09, MetaLR 0.11
- A14D (p.Ala14Asp), gnomAD 11-36573345-C-A, REVEL 0.26, CADD 20.40
- A14A (p.Ala14Ala), gnomAD 11-36573346-C-T, CADD 9.00
- P15L (p.Pro15Leu), NCI-TCGA TCGA novel, REVEL 0.37, MetaLR 0.43, Variant assessed as somatic; moderate impact.
- P15R (p.Pro15Arg), TOPMed rs1187342308, gnomAD rs1187342308, REVEL 0.43, MetaLR 0.50
- P15S (p.Pro15Ser), ExAC rs763134083, TOPMed rs763134083, gnomAD rs763134083, REVEL 0.23, MetaLR 0.36
- D16G (p.Asp16Gly), rs751834545, ClinGen CA5949896, ClinVar RCV001454193, ClinVar RCV002557546, REVEL 0.17, MetaLR 0.25, Conflicting interpretations, Inborn genetic diseases; Combined immunodeficiency with skin granulomas; Severe
- D16H (p.Asp16His), ExAC rs766458077, TOPMed rs766458077, gnomAD rs766458077, REVEL 0.21, MetaLR 0.23
- D16E (p.Asp16Glu), gnomAD 11-36573352-T-A, REVEL 0.17, CADD 0.42
- D16D (p.Asp16Asp), gnomAD 11-36573352-T-C, CADD 3.29
- E17D (p.Glu17Asp), ExAC rs755263117, gnomAD rs755263117, REVEL 0.25, MetaLR 0.32, Uncertain significance, Inborn genetic diseases
- E17K (p.Glu17Lys), NCI-TCGA Cosmic COSV1002, TOPMed rs1850776774, gnomAD rs1850776774, REVEL 0.40, MetaLR 0.31, Variant assessed as somatic; moderate impact.
- Q19* (p.Gln19Ter), TOPMed rs1225248653
- Q19R (p.Gln19Arg), ESP rs150201913, TOPMed rs150201913, gnomAD rs150201913
- Q19Q (p.Gln19Gln), gnomAD 11-36573361-G-A, CADD 2.79
- H20Q (p.His20Gln), 1000Genomes rs138801620, ESP rs138801620, ExAC rs138801620, TOPMed rs138801620, REVEL 0.24, MetaLR 0.21, Likely benign
- H20Y (p.His20Tyr), gnomAD rs1235434764, REVEL 0.16, MetaLR 0.26
- H20H (p.His20His), rs138801620, gnomAD 11-36573364-C-T, CADD 2.45
- P21L (p.Pro21Leu), gnomAD rs1451044368, REVEL 0.36, MetaLR 0.41
- P21Q (p.Pro21Gln), gnomAD rs1451044368, MetaLR 0.49, MetaSVM -0.06
- P21S (p.Pro21Ser), TOPMed rs1207354466, gnomAD rs1207354466, REVEL 0.29, MetaLR 0.35
- P21P (p.Pro21Pro), rs757035017, gnomAD 11-36573367-A-C, CADD 4.47
- H22Y (p.His22Tyr), TOPMed rs1319420569, REVEL 0.04, MetaLR 0.14
- H22H (p.His22His), rs1483396293, gnomAD 11-36573370-T-C, CADD 1.74
- I23N (p.Ile23Asn), NCI-TCGA Cosmic COSV1002, MetaLR 0.20, MetaSVM -0.86, Variant assessed as somatic; moderate impact.
- I23V (p.Ile23Val), gnomAD 11-36573371-A-G, REVEL 0.11, CADD 16.20
- F25L (p.Phe25Leu), Ensembl rs2133292669, REVEL 0.50, MetaLR 0.38
- S26P (p.Ser26Pro), rs2494749976, ClinGen CA380145361, ClinVar RCV002799264, ClinVar RCV004765379, REVEL 0.39, MetaLR 0.35, Uncertain significance, Recombinase activating gene 1 deficiency
- S26S (p.Ser26Ser), rs1590701535, gnomAD 11-36573382-A-G, CADD 7.10
- E27G (p.Glu27Gly), Ensembl rs1850777384, REVEL 0.36, MetaLR 0.40
- E27Q (p.Glu27Gln), NCI-TCGA TCGA novel, REVEL 0.24, MetaLR 0.33, Variant assessed as somatic; moderate impact.
- W28C (p.Trp28Cys), NCI-TCGA TCGA novel, REVEL 0.65, MetaLR 0.72, Variant assessed as somatic; moderate impact.
- W28R (p.Trp28Arg), rs1274599533, ClinGen CA380145403, ClinVar RCV001046637, ClinVar RCV004765344, REVEL 0.71, MetaLR 0.70, Uncertain significance, Recombinase activating gene 1 deficiency
- K29R (p.Lys29Arg), rs756679254, ClinGen CA5949900, ClinVar RCV002998772, ClinVar RCV004765373, REVEL 0.37, MetaLR 0.62, Uncertain significance, Recombinase activating gene 1 deficiency
- F30L (p.Phe30Leu), gnomAD 11-36573394-T-G, REVEL 0.59, CADD 24.80
- K31R (p.Lys31Arg), gnomAD 11-36573396-A-G, REVEL 0.35, CADD 26.00
- L32V (p.Leu32Val), rs149364682, ClinGen CA5949901, ClinVar RCV000818000, ESP rs149364682, REVEL 0.34, MetaLR 0.62, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- L32M (p.Leu32Met), gnomAD 11-36573398-C-A, REVEL 0.34, CADD 23.20
- L32L (p.Leu32Leu), gnomAD 11-36573400-G-C, CADD 0.13
- F33I (p.Phe33Ile), 1000Genomes rs572993073, ExAC rs572993073, gnomAD rs572993073
- F33L (p.Phe33Leu), ESP rs370678903, ExAC rs370678903, TOPMed rs370678903, gnomAD rs370678903, REVEL 0.48, MetaLR 0.53
- F33Y (p.Phe33Tyr), rs2133292699, ClinGen CA380145490, ClinVar RCV001979856, Ensembl rs2133292699, AlphaMissense 0.61, MetaLR 0.56, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- R34L (p.Arg34Leu), ESP rs377307948, ExAC rs377307948, TOPMed rs377307948, gnomAD rs377307948, REVEL 0.46, MetaLR 0.38, Uncertain significance
- R34Q (p.Arg34Gln), rs377307948, ClinGen CA5949905, ClinVar RCV000645682, ClinVar RCV002507103, REVEL 0.44, MetaLR 0.33, Uncertain significance, Combined immunodeficiency due to partial RAG1 deficiency; Histiocytic medullary
- R34W (p.Arg34Trp), rs778391388, NCI-TCGA Cosmic COSV5502, ExAC rs778391388, TOPMed rs778391388, REVEL 0.56, MetaLR 0.55, Variant assessed as somatic; moderate impact.
- V35E (p.Val35Glu), rs1414071641, ClinGen CA380145514, ClinVar RCV001977949, gnomAD rs1414071641, REVEL 0.71, MetaLR 0.57, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- V35M (p.Val35Met), rs1164702188, ClinGen CA380145508, ClinVar RCV003800206, TOPMed rs1164702188, REVEL 0.37, MetaLR 0.53, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- V35V (p.Val35Val), rs771743966, gnomAD 11-36573409-G-A, CADD 6.34
- R36I (p.Arg36Ile), NCI-TCGA Cosmic COSV5502, Variant assessed as somatic; moderate impact.
- R36K (p.Arg36Lys), gnomAD 11-36573411-G-A, REVEL 0.23, CADD 18.50
- R36R (p.Arg36Arg), rs865862470, gnomAD 11-36573412-A-G, CADD 11.40
- S37A (p.Ser37Ala), rs1162129015, ClinGen CA380145548, ClinVar RCV002730601, TOPMed rs1162129015, REVEL 0.23, MetaLR 0.33, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- S37F (p.Ser37Phe), NCI-TCGA Cosmic COSV5502, Variant assessed as somatic; moderate impact.
- S37T (p.Ser37Thr), TOPMed rs1162129015, gnomAD rs1162129015, REVEL 0.37, MetaLR 0.35, Uncertain significance
- S37Y (p.Ser37Tyr), gnomAD rs1362347641, REVEL 0.39, MetaLR 0.62
- F38F (p.Phe38Phe), gnomAD 11-36573418-T-C, CADD 9.17
- E39G (p.Glu39Gly), NCI-TCGA TCGA novel, MetaLR 0.33, MetaSVM -0.49, Variant assessed as somatic; moderate impact.
- K40N (p.Lys40Asn), ExAC rs779958394, TOPMed rs779958394, gnomAD rs779958394, MetaLR 0.46, MetaSVM -0.17, Likely benign
- K40K (p.Lys40Lys), rs779958394, gnomAD 11-36573424-G-A, CADD 8.73
- P42H (p.Pro42His), NCI-TCGA Cosmic COSV5502, MetaLR 0.56, MetaSVM 0.14, Variant assessed as somatic; moderate impact.
- P42L (p.Pro42Leu), TOPMed rs1449961416, gnomAD rs1449961416, REVEL 0.31, MetaLR 0.52
- P42R (p.Pro42Arg), TOPMed rs1449961416, gnomAD rs1449961416, REVEL 0.37, MetaLR 0.55
- P42S (p.Pro42Ser), rs1338238826, ClinGen CA380145631, ClinVar RCV001304267, TOPMed rs1338238826, REVEL 0.14, MetaLR 0.27, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- P42T (p.Pro42Thr), TOPMed rs1338238826, gnomAD rs1338238826, REVEL 0.17, MetaLR 0.32, Uncertain significance
- P42P (p.Pro42Pro), rs1284946650, gnomAD 11-36573430-T-C, CADD 4.77
- E43K (p.Glu43Lys), gnomAD 11-36573431-G-A, REVEL 0.16, CADD 17.00
- E44K (p.Glu44Lys), rs1850778515, ClinGen CA380145661, ClinVar RCV002045524, TOPMed rs1850778515, AlphaMissense 0.09, MetaLR 0.25, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A45S (p.Ala45Ser), TOPMed rs1421811091, gnomAD rs1421811091, REVEL 0.06, MetaLR 0.12
- A45P (p.Ala45Pro), gnomAD 11-36573437-G-C, REVEL 0.25, CADD 18.90
- A45T (p.Ala45Thr), gnomAD 11-36573437-G-A, REVEL 0.07, CADD 16.70
- A45A (p.Ala45Ala), rs746942853, gnomAD 11-36573439-T-G, CADD 9.41
- Q46K (p.Gln46Lys), NCI-TCGA TCGA novel, MetaLR 0.24, MetaSVM -0.76, Variant assessed as somatic; moderate impact.
- K47E (p.Lys47Glu), rs768649904, ClinGen CA5949909, ClinVar RCV004445572, ExAC rs768649904, REVEL 0.14, MetaLR 0.17, Uncertain significance, Inborn genetic diseases
- K47T (p.Lys47Thr), gnomAD 11-36573444-A-C, REVEL 0.22, CADD 0.08
- K47N (p.Lys47Asn), gnomAD 11-36573445-G-C, REVEL 0.07, CADD 4.51
- E48D (p.Glu48Asp), NCI-TCGA Cosmic COSV5502, MetaLR 0.14, MetaSVM -0.95, Variant assessed as somatic; moderate impact.
- p.Glu48 Lys50del, gnomAD 11-36573442-AAAGG, CADD 16.50
- K49N (p.Lys49Asn), NCI-TCGA Cosmic COSV5502, MetaLR 0.10, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- K50T (p.Lys50Thr), ExAC rs776727182, gnomAD rs776727182, REVEL 0.12, MetaLR 0.19
- K50del (p.Lys50del), rs1286475782, gnomAD 11-36573448-AAAG-, CADD 15.90
- K50* (p.Lys50Ter), gnomAD 11-36573452-A-T, CADD 35.00
- K50K (p.Lys50Lys), rs1590701604, gnomAD 11-36573454-G-A, CADD 2.15
- K50N (p.Lys50Asn), gnomAD 11-36573454-G-T, REVEL 0.03, CADD 7.40
- D51H (p.Asp51His), rs373615697, ClinGen CA5949911, ClinVar RCV003383813, ESP rs373615697, REVEL 0.07, MetaLR 0.23, Uncertain significance, Inborn genetic diseases
- D51N (p.Asp51Asn), ESP rs373615697, ExAC rs373615697, TOPMed rs373615697, gnomAD rs373615697, REVEL 0.10, MetaLR 0.16, Uncertain significance
- D51V (p.Asp51Val), rs147486240, ClinGen CA5949912, ClinVar RCV000269112, ClinVar RCV000324217, REVEL 0.13, MetaLR 0.14, Uncertain significance, Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r
- D51Y (p.Asp51Tyr), ESP rs373615697, ExAC rs373615697, TOPMed rs373615697, gnomAD rs373615697, REVEL 0.07, MetaLR 0.23, Uncertain significance
- D51D (p.Asp51Asp), gnomAD 11-36573457-T-C, CADD 4.69
- S52F (p.Ser52Phe), gnomAD rs1486819488, REVEL 0.19, MetaLR 0.33
- S52Y (p.Ser52Tyr), NCI-TCGA Cosmic COSV5502, REVEL 0.18, MetaLR 0.32, Variant assessed as somatic; moderate impact.
- S52S (p.Ser52Ser), rs544850214, gnomAD 11-36573460-C-T, CADD 4.91
- F53C (p.Phe53Cys), ExAC rs759858884, TOPMed rs759858884, gnomAD rs759858884, REVEL 0.12, MetaLR 0.15
- F53S (p.Phe53Ser), ExAC rs759858884, TOPMed rs759858884, gnomAD rs759858884, REVEL 0.09, MetaLR 0.06
- F53I (p.Phe53Ile), gnomAD 11-36573461-T-A, REVEL 0.14, CADD 8.89
- F53L (p.Phe53Leu), gnomAD 11-36573463-T-G, REVEL 0.16, CADD 0.02
- E54* (p.Glu54Ter), rs2494750272, ClinVar RCV004574679, Likely pathogenic
- E54E (p.Glu54Glu), rs1850779315, gnomAD 11-36573466-G-A, CADD 5.54
- G55E (p.Gly55Glu), ExAC rs767765877, gnomAD rs767765877, REVEL 0.20, MetaLR 0.27
- G55R (p.Gly55Arg), gnomAD rs1850779366, REVEL 0.31, MetaLR 0.50
- G55G (p.Gly55Gly), rs752991359, gnomAD 11-36573469-G-A, CADD 6.39
- K56E (p.Lys56Glu), gnomAD rs1409296761, REVEL 0.06, MetaLR 0.21
- K56* (p.Lys56Ter), gnomAD 11-36573470-A-T, CADD 34.00
- K56K (p.Lys56Lys), rs1381690676, gnomAD 11-36573472-A-G, CADD 2.45
- P57H (p.Pro57His), Ensembl rs1850779628
- P57R (p.Pro57Arg), Ensembl rs1850779628
- P57S (p.Pro57Ser), gnomAD 11-36573473-C-T, REVEL 0.06, CADD 2.27
- P57A (p.Pro57Ala), gnomAD 11-36573473-C-G, REVEL 0.04, CADD 0.71
- P57T (p.Pro57Thr), gnomAD 11-36573473-C-A, REVEL 0.05, CADD 1.33
- S58P (p.Ser58Pro), ExAC rs761039913, gnomAD rs761039913, REVEL 0.15, MetaLR 0.18
- L59R (p.Leu59Arg), gnomAD rs1157909558, REVEL 0.29, MetaLR 0.30
- E60V (p.Glu60Val), ExAC rs764535849, TOPMed rs764535849, gnomAD rs764535849, REVEL 0.29, MetaLR 0.45
- E60Q (p.Glu60Gln), gnomAD 11-36573482-G-C, REVEL 0.17, CADD 22.70
- E60E (p.Glu60Glu), gnomAD 11-36573484-G-A, CADD 7.39
- Q61* (p.Gln61Ter), rs2494750358, ClinGen CA380145814, ClinVar RCV003472546, Likely pathogenic
- Q61K (p.Gln61Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q61R (p.Gln61Arg), gnomAD rs1415916254, REVEL 0.21, MetaLR 0.36
- S62F (p.Ser62Phe), Ensembl rs2133292927
- S62S (p.Ser62Ser), rs201625282, gnomAD 11-36573490-T-G, CADD 7.70
- P63A (p.Pro63Ala), rs1850780083, ClinGen CA380145827, ClinVar RCV001103309, ClinVar RCV001103310, AlphaMissense 0.06, MetaLR 0.20, Uncertain significance, Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r
- P63L (p.Pro63Leu), ExAC rs754373829, gnomAD rs754373829, REVEL 0.10, MetaLR 0.30
- P63S (p.Pro63Ser), rs1850780083, ClinGen CA380145828, ClinVar RCV001936648, Ensembl rs1850780083, REVEL 0.07, AlphaMissense 0.06, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- P63P (p.Pro63Pro), rs34357808, gnomAD 11-36573493-A-T, CADD 6.54
- A64V (p.Ala64Val), rs1564988004, ClinGen CA380145847, ClinVar RCV000686139, Ensembl rs1564988004, AlphaMissense 0.07, MetaLR 0.14, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A64E (p.Ala64Glu), gnomAD 11-36573495-C-A, REVEL 0.02, CADD 5.36
- V65A (p.Val65Ala), rs143654819, ClinGen CA5949922, ClinVar RCV001359939, ESP rs143654819, REVEL 0.11, MetaLR 0.18, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- V65F (p.Val65Phe), rs750032999, ClinGen CA5949921, ClinVar RCV001341544, ClinVar RCV005470764, REVEL 0.11, MetaLR 0.29, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- V65I (p.Val65Ile), rs750032999, ClinGen CA380145849, ClinVar RCV001363006, ExAC rs750032999, REVEL 0.17, MetaLR 0.26, Uncertain significance, Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- V65G (p.Val65Gly), gnomAD 11-36573498-T-G, REVEL 0.15, CADD 15.30
- V65D (p.Val65Asp), gnomAD 11-36573498-T-A, REVEL 0.23, CADD 12.50
- L66P (p.Leu66Pro), ExAC rs779859808, gnomAD rs779859808, REVEL 0.09, MetaLR 0.13
- L66V (p.Leu66Val), gnomAD rs1377826874, REVEL 0.13, MetaLR 0.21
- L66L (p.Leu66Leu), gnomAD 11-36573500-C-T, CADD 7.45
- D67H (p.Asp67His), gnomAD rs1284430302, REVEL 0.19, MetaLR 0.27
- D67G (p.Asp67Gly), gnomAD 11-36573504-A-G, REVEL 0.09, CADD 17.90
- K68N (p.Lys68Asn), gnomAD 11-36573508-G-C, REVEL 0.06, CADD 10.20
- A69G (p.Ala69Gly), rs887750833, ClinGen CA220599913, ClinVar RCV002227588, ClinVar RCV003107970, REVEL 0.12, MetaLR 0.19, Uncertain significance, Combined immunodeficiency due to partial RAG1 deficiency; Severe combined immuno
- A69T (p.Ala69Thr), gnomAD 11-36573509-G-A, REVEL 0.03, CADD 7.38
- A69A (p.Ala69Ala), gnomAD 11-36573511-T-G, CADD 8.51
- D70E (p.Asp70Glu), ExAC rs746746901, gnomAD rs746746901, REVEL 0.07, MetaLR 0.10
- D70H (p.Asp70His), gnomAD 11-36573512-G-C, REVEL 0.06, CADD 15.40
- D70G (p.Asp70Gly), gnomAD 11-36573513-A-G, REVEL 0.05, CADD 0.49
- G71C (p.Gly71Cys), gnomAD rs1470456519, REVEL 0.22, MetaLR 0.32
- Q72K (p.Gln72Lys), ExAC rs768598530, gnomAD rs768598530
- Q72P (p.Gln72Pro), ExAC rs781240450, gnomAD rs781240450, REVEL 0.19, MetaLR 0.16, Uncertain significance
- Q72R (p.Gln72Arg), rs781240450, ClinGen CA5949926, ClinVar RCV001916181, ExAC rs781240450, REVEL 0.10, MetaLR 0.23, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Q72L (p.Gln72Leu), gnomAD 11-36573519-A-T, REVEL 0.09, CADD 14.20
Public RAG1 analysis runs
- RAG1 analysis run — RAG1 (1,794 variants) — completed 2026-08-19