IFNGR1 (Interferon gamma receptor 1) variants and mutations
IFNGR1 (also known as Interferon gamma receptor 1) is a human protein-coding gene encoding an interferon gamma receptor 1 protein. It binds interferon-gamma and initiates STAT1-dependent antimicrobial and immune-activating programs. Complete or partial loss-of-function variants cause Mendelian susceptibility to mycobacterial disease with severity related to residual signaling. This analysis covers 1,018 IFNGR1 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes disseminated atypical mycobacterial infection, chronic granulomatous disease, and idiopathic pulmonary fibrosis. Example IFNGR1 variants include M1K, M1V, and A2D.
Variant analysis overview
- Gene: IFNGR1
- Protein: Interferon gamma receptor 1
- UniProt accession: P15260
- Organism: Homo sapiens
- Variants analyzed: 1018
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 739 unspecified-consequence records; 1 stop retained variant; 127 synonymous variants; 16 frameshift variants; 119 missense variants; 6 in-frame deletions; 5 stop-gained variants; 1 splice-region variants; 4 substitution
- Prediction scores: 710 variants have prediction scores (70% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: disseminated atypical mycobacterial infection, chronic granulomatous disease, idiopathic pulmonary fibrosis, mycobacterial infectious disease, osteopetrosis, Oral ulcer, neoplasm, cystic fibrosis, Friedreich ataxia, Hepatic fibrosis, inflammation, neurodegenerative disease.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 10 post-translational modification sites.
- Structural context: 42 variants have structural context.
- PTM context: 24 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 IFNGR1 variants
Examples include M1K, M1V, A2D, A2G, A2T, A2V, L3F, L3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs387906593, ClinGen CA128494, ClinVar RCV000022447, MetaLR 0.60, MetaSVM -0.32, Pathogenic, Immunodeficiency 27A
- M1V (p.Met1Val), rs1779790177, ClinGen CA365776550, ClinVar RCV002224635, MetaLR 0.59, MetaSVM -0.32, Uncertain significance, not provided
- A2D (p.Ala2Asp), rs121913172, ClinGen CA365776542, ClinVar RCV003763723, 1000Genomes rs121913172, REVEL 0.44, CADD 22.90, Uncertain significance, Disseminated atypical mycobacterial infection
- A2G (p.Ala2Gly), rs121913172, ClinGen CA4019114, ClinVar RCV002240553, 1000Genomes rs121913172, REVEL 0.18, AlphaMissense 0.10, Uncertain significance, Disseminated atypical mycobacterial infection
- A2T (p.Ala2Thr), rs1018508960, NCI-TCGA Cosmic COSV6298, Ensembl rs1018508960, AlphaMissense 0.25, MetaLR 0.30, Variant assessed as somatic; moderate impact.
- A2V (p.Ala2Val), rs121913172, ClinGen CA230516, ClinVar RCV000097418, ClinVar RCV002514552, REVEL 0.28, AlphaMissense 0.17, Uncertain significance, Disseminated atypical mycobacterial infection
- L3F (p.Leu3Phe), gnomAD rs1406767058, CADD 5.25
- L3V (p.Leu3Val), NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; moderate impact.
- L4F (p.Leu4Phe), rs1327532084, ClinGen CA365776533, ClinVar RCV003863842, gnomAD rs1327532084, REVEL 0.27, CADD 14.80, Uncertain significance, Disseminated atypical mycobacterial infection
- F5L (p.Phe5Leu), rs749066245, ClinGen CA4019111, ClinVar RCV003830986, ExAC rs749066245, REVEL 0.15, AlphaMissense 0.21, Uncertain significance, Disseminated atypical mycobacterial infection
- L6F (p.Leu6Phe), Ensembl rs2114527792
- L7P (p.Leu7Pro), rs2548247438, ClinGen CA365776514, ClinVar RCV003821318, ClinVar RCV004767486, REVEL 0.56, CADD 23.80, Uncertain significance, Disseminated atypical mycobacterial infection; not provided
- P8L (p.Pro8Leu), TOPMed rs1779789545, REVEL 0.19, CADD 7.02, Uncertain significance, Disseminated atypical mycobacterial infection
- P8S (p.Pro8Ser), gnomAD rs1466445736, REVEL 0.14, CADD 0.66
- L9F (p.Leu9Phe), ExAC rs777571593, gnomAD rs777571593
- L9H (p.Leu9His), rs201275515, ClinGen CA4019109, ClinVar RCV002241308, ExAC rs201275515, REVEL 0.43, CADD 22.90, Uncertain significance, Disseminated atypical mycobacterial infection
- L9V (p.Leu9Val), ExAC rs777571593, gnomAD rs777571593, REVEL 0.26, CADD 13.60
- V10I (p.Val10Ile), rs2114527746, ClinGen CA365776500, ClinVar RCV003762549, AlphaMissense 0.10, MetaLR 0.07, Uncertain significance, Disseminated atypical mycobacterial infection
- V10L (p.Val10Leu), Ensembl rs2114527746, CADD 13.70
- M11I (p.Met11Ile), rs1436185223, ClinGen CA365776490, ClinVar RCV002047100, gnomAD rs1436185223, REVEL 0.12, CADD 8.38, Uncertain significance, Disseminated atypical mycobacterial infection
- M11L (p.Met11Leu), ExAC rs781270900, TOPMed rs781270900, gnomAD rs781270900, REVEL 0.11, CADD 0.02, Uncertain significance, Disseminated atypical mycobacterial infection
- Q12* (p.Gln12Ter), NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; high impact.
- Q12E (p.Gln12Glu), rs2548247404, ClinGen CA365776485, ClinVar RCV003596908, ClinVar RCV004765896, Uncertain significance, not provided; Disseminated atypical mycobacterial infection
- Q12H (p.Gln12His), NCI-TCGA Cosmic COSV1008, CADD 2.53, Variant assessed as somatic; moderate impact.
- G13V (p.Gly13Val), 1000Genomes rs559569459, ExAC rs559569459, gnomAD rs559569459, REVEL 0.32, CADD 5.85
- V14A (p.Val14Ala), NCI-TCGA Cosmic COSV6298, Variant assessed as somatic; moderate impact., may influence susceptibility to autoimmune and inflammatory diseases such as sys
- V14M (p.Val14Met), rs11575936, ClinGen CA4019105, ClinVar RCV000897561, ClinVar RCV002235608, REVEL 0.32, CADD 16.10, Conflicting interpretations, Disseminated atypical mycobacterial infection; Immunodeficiency 27A
- R16K (p.Arg16Lys), NCI-TCGA Cosmic COSV6298, Variant assessed as somatic; moderate impact.
- R16S (p.Arg16Ser), 1000Genomes rs11575931, ESP rs11575931, ExAC rs11575931, TOPMed rs11575931, REVEL 0.23, CADD 7.44, Benign
- R16W (p.Arg16Trp), ExAC rs758608616, gnomAD rs758608616, REVEL 0.35, AlphaMissense 0.47
- A17P (p.Ala17Pro), TOPMed rs1779788676, Uncertain significance, Disseminated atypical mycobacterial infection
- A17T (p.Ala17Thr), TOPMed rs1779788676
- E18K (p.Glu18Lys), rs868340562, NCI-TCGA Cosmic COSV1008, Ensembl rs868340562, REVEL 0.15, CADD 12.20, Variant assessed as somatic; moderate impact.
- M19I (p.Met19Ile), Ensembl rs1582649836, REVEL 0.14, CADD 9.72
- M19R (p.Met19Arg), Ensembl rs2114527617
- M19V (p.Met19Val), Ensembl rs1779788560
- G20D (p.Gly20Asp), gnomAD rs1278918717, REVEL 0.43, CADD 10.40
- G20R (p.Gly20Arg), rs765685150, ClinGen CA4019102, ClinVar RCV002240256, ExAC rs765685150, REVEL 0.37, CADD 16.00, Uncertain significance, Disseminated atypical mycobacterial infection
- T21I (p.Thr21Ile), Ensembl rs2114527582, REVEL 0.08, CADD 4.62, Uncertain significance, Disseminated atypical mycobacterial infection
- T21P (p.Thr21Pro), Ensembl rs1779788367, REVEL 0.23, CADD 5.07
- A22V (p.Ala22Val), ExAC rs754412960, gnomAD rs754412960, REVEL 0.20, CADD 17.00
- D23N (p.Asp23Asn), rs1331566701, ClinGen CA365776414, ClinVar RCV001996726, TOPMed rs1331566701, REVEL 0.10, CADD 16.30, Uncertain significance, Disseminated atypical mycobacterial infection
- G25E (p.Gly25Glu), gnomAD rs1405796456, REVEL 0.10, CADD 11.10, Uncertain significance
- G25R (p.Gly25Arg), ESP rs369659162, ExAC rs369659162, gnomAD rs369659162, REVEL 0.14, CADD 18.60
- G25V (p.Gly25Val), rs1405796456, ClinGen CA365776401, ClinVar RCV003763668, gnomAD rs1405796456, REVEL 0.25, CADD 22.80, Uncertain significance, Disseminated atypical mycobacterial infection
- P26L (p.Pro26Leu), rs768232887, ClinGen CA4019097, ClinVar RCV002235547, ExAC rs768232887, REVEL 0.18, CADD 9.20, Uncertain significance, Disseminated atypical mycobacterial infection
- P26Q (p.Pro26Gln), rs768232887, ClinGen CA4019098, ClinVar RCV002570316, ExAC rs768232887, REVEL 0.33, CADD 18.80, Uncertain significance, Disseminated atypical mycobacterial infection
- P26S (p.Pro26Ser), gnomAD rs867829701, REVEL 0.20, CADD 18.10
- S27F (p.Ser27Phe), ExAC rs770509341, gnomAD rs770509341, REVEL 0.27, CADD 23.40
- S27Y (p.Ser27Tyr), ExAC rs770509341, gnomAD rs770509341, REVEL 0.27, CADD 22.90
- S28* (p.Ser28Ter), gnomAD rs1468647789, CADD 39.00
- P30S (p.Pro30Ser), gnomAD rs1203393893, REVEL 0.55, CADD 23.60
- T31A (p.Thr31Ala), rs2548236716, ClinGen CA365776221, ClinVar RCV003597196, Uncertain significance, Disseminated atypical mycobacterial infection
- T31I (p.Thr31Ile), rs370074491, ClinGen CA4019051, ClinVar RCV002240309, ESP rs370074491, REVEL 0.17, CADD 0.01, Uncertain significance, Disseminated atypical mycobacterial infection
- T31R (p.Thr31Arg), rs370074491, ClinGen CA4019052, ClinVar RCV002240210, ESP rs370074491, REVEL 0.20, CADD 0.01, Uncertain significance, Disseminated atypical mycobacterial infection
- T33S (p.Thr33Ser), Ensembl rs2114490598, REVEL 0.17, CADD 17.90
- N34D (p.Asn34Asp), rs555180897, ClinGen CA4019047, ClinVar RCV002231721, ClinVar RCV002527765, REVEL 0.32, CADD 21.50, Uncertain significance, Disseminated atypical mycobacterial infection; Inborn genetic diseases
- T36I (p.Thr36Ile), cosmic curated COSV62990, Ensembl rs2114490555
- I37M (p.Ile37Met), rs762424077, ClinGen CA365776182, ClinVar RCV002234229, TOPMed rs762424077, REVEL 0.33, CADD 15.40, Uncertain significance, Disseminated atypical mycobacterial infection
- I37T (p.Ile37Thr), rs945137618, UniProt VAR 080059, TOPMed rs945137618, REVEL 0.52, CADD 22.70, Pathogenic, in IMD27A
- I37V (p.Ile37Val), TOPMed rs1242424639, gnomAD rs1242424639, REVEL 0.07, CADD 0.12, Uncertain significance, Disseminated atypical mycobacterial infection
- E38K (p.Glu38Lys), Ensembl rs2114490485
- S39F (p.Ser39Phe), Ensembl rs2114490465
- Y40C (p.Tyr40Cys), rs1174089963, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, TOPMed rs1174089963, REVEL 0.41, CADD 23.20, Variant assessed as somatic; moderate impact.
- N41S (p.Asn41Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M42T (p.Met42Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N43K (p.Asn43Lys), gnomAD rs1450157081
- N43Y (p.Asn43Tyr), rs1404651605, ClinGen CA365776141, ClinVar RCV002242051, TOPMed rs1404651605, REVEL 0.34, CADD 22.60, Uncertain significance, Disseminated atypical mycobacterial infection
- P44R (p.Pro44Arg), gnomAD rs866902738, REVEL 0.41, CADD 22.80
- P44S (p.Pro44Ser), ExAC rs749548839, gnomAD rs749548839, REVEL 0.31, CADD 14.60
- I45V (p.Ile45Val), rs777965499, ClinGen CA4019044, ClinVar RCV001917156, ExAC rs777965499, REVEL 0.07, CADD 0.01, Uncertain significance, Disseminated atypical mycobacterial infection
- V46I (p.Val46Ile), rs538147969, ClinGen CA4019042, ClinVar RCV002235604, 1000Genomes rs538147969, REVEL 0.11, CADD 1.08, Likely benign, Disseminated atypical mycobacterial infection
- Y47H (p.Tyr47His), ExAC rs781724626, gnomAD rs781724626, REVEL 0.06, CADD 0.52
- W48L (p.Trp48Leu), Ensembl rs1945582098
- Q51R (p.Gln51Arg), rs375024435, ClinGen CA4019040, ClinVar RCV001875353, ESP rs375024435, REVEL 0.22, CADD 6.18, Uncertain significance, Disseminated atypical mycobacterial infection
- M53I (p.Met53Ile), ExAC rs778617419, gnomAD rs778617419, REVEL 0.09, CADD 6.09
- Q55H (p.Gln55His), NCI-TCGA Cosmic COSV6298, cosmic curated COSV62989, 1000Genomes rs544637873, REVEL 0.11, CADD 5.20, Variant assessed as somatic; moderate impact.
- Q55R (p.Gln55Arg), 1000Genomes rs561031447, ExAC rs561031447, TOPMed rs561031447, gnomAD rs561031447, REVEL 0.23, CADD 7.24
- V56G (p.Val56Gly), rs763644961, ClinGen CA4019034, ClinVar RCV002241303, ExAC rs763644961, REVEL 0.18, CADD 2.87, Uncertain significance, Disseminated atypical mycobacterial infection
- V56I (p.Val56Ile), Ensembl rs2114490139
- V56L (p.Val56Leu), Ensembl rs2114490139
- P57A (p.Pro57Ala), TOPMed rs1348102762, REVEL 0.28, CADD 11.40
- P57R (p.Pro57Arg), rs2548236542, ClinGen CA365776044, ClinVar RCV003300500, Uncertain significance, Inborn genetic diseases
- P57S (p.Pro57Ser), TOPMed rs1348102762
- V58I (p.Val58Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T60I (p.Thr60Ile), TOPMed rs1779447703
- V61A (p.Val61Ala), rs121912715, ClinGen CA4019031, ClinVar RCV003596726, ExAC rs121912715, REVEL 0.52, AlphaMissense 0.88, Uncertain significance, Disseminated atypical mycobacterial infection
- V61E (p.Val61Glu), rs121912715, ClinGen CA127609, ClinVar RCV000019546, UniProt VAR 080060, AlphaMissense 0.88, MetaLR 0.61, Pathogenic, Immunodeficiency 27A
- V61G (p.Val61Gly), ExAC rs121912715, TOPMed rs121912715, gnomAD rs121912715, Pathogenic, in IMD27A
- V61I (p.Val61Ile), rs17175322, ClinGen CA4019032, cosmic curated COSV10088, ClinVar RCV000638149, REVEL 0.31, CADD 20.30, Benign/Likely benign, Immunodeficiency 27A; Disseminated atypical mycobacterial infection
- E62K (p.Glu62Lys), TOPMed rs995097591
- V63G (p.Val63Gly), UniProt VAR 080062, REVEL 0.63, CADD 24.90, Pathogenic, in IMD27A
- K64N (p.Lys64Asn), gnomAD rs1314592282, REVEL 0.24, CADD 22.70
- Y66C (p.Tyr66Cys), UniProt VAR 080063, REVEL 0.70, CADD 26.20, Pathogenic, in IMD27A
- Y66F (p.Tyr66Phe), Ensembl rs867775070, REVEL 0.55, CADD 24.90
- G67C (p.Gly67Cys), cosmic curated COSV10591, gnomAD rs1779446398
- G67D (p.Gly67Asp), rs2548236486, ClinGen CA365775980, ClinVar RCV003596915, Uncertain significance, Disseminated atypical mycobacterial infection
- V68D (p.Val68Asp), rs2548235635, ClinGen CA365775966, ClinVar RCV003597179, Uncertain significance, Disseminated atypical mycobacterial infection
- V68I (p.Val68Ile), TOPMed rs1159939937, gnomAD rs1159939937, REVEL 0.09, CADD 11.70
- E72A (p.Glu72Ala), TOPMed rs1406607541, gnomAD rs1406607541
- E72K (p.Glu72Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E72V (p.Glu72Val), TOPMed rs1406607541, gnomAD rs1406607541, REVEL 0.24, CADD 0.07
- W73* (p.Trp73Ter), rs2548235597, ClinGen CA365775930, ClinVar RCV003887366, Pathogenic
- W73C (p.Trp73Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W73F (p.Trp73Phe), rs867775070, []
- D75A (p.Asp75Ala), ExAC rs770076728, gnomAD rs770076728
- D75G (p.Asp75Gly), ExAC rs770076728, gnomAD rs770076728, REVEL 0.37, CADD 19.60, Uncertain significance, Disseminated atypical mycobacterial infection
- D75H (p.Asp75His), Ensembl rs2114487467
- D75V (p.Asp75Val), ExAC rs770076728, gnomAD rs770076728, REVEL 0.37, CADD 10.40
- D75Y (p.Asp75Tyr), Ensembl rs2114487467
- A76S (p.Ala76Ser), TOPMed rs1026353199, gnomAD rs1026353199
- A76T (p.Ala76Thr), TOPMed rs1026353199, gnomAD rs1026353199, REVEL 0.15, CADD 22.60
- A76V (p.Ala76Val), rs761991376, ClinGen CA4019005, ClinVar RCV001917214, ExAC rs761991376, REVEL 0.08, CADD 15.80, Uncertain significance, Disseminated atypical mycobacterial infection
- C77F (p.Cys77Phe), UniProt VAR 080064, Pathogenic, in IMD27A
- C77Y (p.Cys77Tyr), rs104893974, ClinGen CA127607, ClinVar RCV000019545, UniProt VAR 017577, AlphaMissense 0.98, MetaLR 0.80, Pathogenic, Immunodeficiency 27A
- I78V (p.Ile78Val), gnomAD rs1388267194, REVEL 0.07, CADD 0.01
- N79S (p.Asn79Ser), rs377227464, ClinGen CA4019004, ClinVar RCV000689808, ClinVar RCV002232890, REVEL 0.32, CADD 14.70, Uncertain significance, Disseminated atypical mycobacterial infection; Immunodeficiency 27A
- N79T (p.Asn79Thr), cosmic curated COSV10820, 1000Genomes rs377227464, ESP rs377227464, ExAC rs377227464, Uncertain significance
- I80M (p.Ile80Met), gnomAD rs1196793520, REVEL 0.45, CADD 10.70
- H82D (p.His82Asp), Ensembl rs2114487300, REVEL 0.28, CADD 0.02
- H82Y (p.His82Tyr), Ensembl rs2114487300, REVEL 0.17, CADD 0.04
- H83R (p.His83Arg), Ensembl rs1779425156, REVEL 0.20, CADD 12.90
- Y84C (p.Tyr84Cys), 1000Genomes rs180680034, ExAC rs180680034, TOPMed rs180680034, gnomAD rs180680034, REVEL 0.22, CADD 1.28, Uncertain significance
- Y84F (p.Tyr84Phe), rs180680034, ClinGen CA148230886, ClinVar RCV001922630, 1000Genomes rs180680034, REVEL 0.11, CADD 0.12, Uncertain significance, Disseminated atypical mycobacterial infection
- Y84H (p.Tyr84His), ESP rs374959677, ExAC rs374959677, TOPMed rs374959677, gnomAD rs374959677, REVEL 0.10, CADD 1.88
- C85Y (p.Cys85Tyr), UniProt VAR 080065, Uncertain significance, Immunodeficiency 27A
- N86S (p.Asn86Ser), ExAC rs780722787, gnomAD rs780722787, REVEL 0.25, CADD 6.67
- I87T (p.Ile87Thr), rs104893973, ClinGen CA127599, ClinVar RCV000019539, ClinVar RCV000144034, REVEL 0.61, CADD 22.90, Pathogenic/Likely pathogenic, Disseminated atypical mycobacterial infection; not provided; Immunodeficiency 27
- D89N (p.Asp89Asn), Ensembl rs1562286674, REVEL 0.13, CADD 0.00
- H90L (p.His90Leu), rs2114487139, ClinGen CA365775812, ClinVar RCV002042288, Ensembl rs2114487139, AlphaMissense 0.14, MetaLR 0.07, Uncertain significance, Disseminated atypical mycobacterial infection
- H90N (p.His90Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H90Y (p.His90Tyr), Ensembl rs2114487155, REVEL 0.14, CADD 0.00
- V91I (p.Val91Ile), gnomAD rs1219026744, REVEL 0.07, CADD 0.10
- G92D (p.Gly92Asp), ExAC rs777193404, gnomAD rs777193404, REVEL 0.17, CADD 0.00
- D93N (p.Asp93Asn), rs1273041625, ClinGen CA365775798, ClinVar RCV002241479, TOPMed rs1273041625, REVEL 0.23, CADD 5.61, Uncertain significance, Disseminated atypical mycobacterial infection
- P94S (p.Pro94Ser), Ensembl rs2114487056
- S95* (p.Ser95Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Variant assessed as somatic; high impact.
- N96D (p.Asn96Asp), rs755616208, ClinGen CA4018998, ClinVar RCV002234759, ExAC rs755616208, REVEL 0.21, CADD 0.00, Uncertain significance, Disseminated atypical mycobacterial infection
- S97C (p.Ser97Cys), gnomAD rs1327760525, REVEL 0.42, CADD 22.60
- L98F (p.Leu98Phe), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Ensembl rs2114486992, Variant assessed as somatic; moderate impact.
- W99C (p.Trp99Cys), rs1582637035, ClinGen CA365775753, ClinVar RCV000795214, Ensembl rs1582637035, AlphaMissense 0.99, MetaLR 0.51, Uncertain significance, Immunodeficiency 27A
- W99R (p.Trp99Arg), rs1582637044, ClinGen CA365775758, ClinVar RCV001030047, Ensembl rs1582637044, AlphaMissense 0.97, MetaLR 0.48, Likely pathogenic, Immunodeficiency 27A
- R101T (p.Arg101Thr), NCI-TCGA Cosmic COSV6298, cosmic curated COSV62989, Variant assessed as somatic; moderate impact.
- V102I (p.Val102Ile), Ensembl rs2114486914
- A104D (p.Ala104Asp), Ensembl rs2114486888
- A104G (p.Ala104Gly), Ensembl rs2114486888
- R105S (p.Arg105Ser), TOPMed rs1402033609, gnomAD rs1402033609, cosmic curated COSV62990, REVEL 0.28, CADD 12.70
- V106I (p.Val106Ile), Ensembl rs2114486849
- G107R (p.Gly107Arg), rs1554227256, ClinGen CA365775703, ClinVar RCV002954938, Ensembl rs1554227256, REVEL 0.68, CADD 28.50, Uncertain significance, Inborn genetic diseases
- K109E (p.Lys109Glu), ExAC rs780883054, TOPMed rs780883054, gnomAD rs780883054, REVEL 0.09, CADD 16.60
- K109R (p.Lys109Arg), rs754779431, ClinGen CA4018995, ClinVar RCV001935244, ExAC rs754779431, REVEL 0.05, CADD 16.60, Uncertain significance, Disseminated atypical mycobacterial infection
- E110* (p.Glu110Ter), NCI-TCGA Cosmic COSV6299, cosmic curated COSV62990, Variant assessed as somatic; high impact.
- E110R (p.Glu110Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S111C (p.Ser111Cys), NCI-TCGA Cosmic COSV6298, cosmic curated COSV62989, Variant assessed as somatic; moderate impact.
- A112G (p.Ala112Gly), gnomAD rs1171392492, REVEL 0.09, CADD 1.96
- A112V (p.Ala112Val), gnomAD rs1171392492
- Y113C (p.Tyr113Cys), TOPMed rs1378351929, gnomAD rs1378351929, REVEL 0.53, CADD 23.50
- A114T (p.Ala114Thr), Ensembl rs2114486738
- A114V (p.Ala114Val), Ensembl rs2114486719
- S116* (p.Ser116Ter), cosmic curated COSV62989, Ensembl rs1800563, CADD 34.00
- S116T (p.Ser116Thr), NCI-TCGA TCGA novel, Ensembl rs2114486688, Variant assessed as somatic; moderate impact.
- E118* (p.Glu118Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Variant assessed as somatic; high impact.
- F119L (p.Phe119Leu), TOPMed rs1323973607, gnomAD rs1323973607, REVEL 0.55, CADD 23.70
- F119S (p.Phe119Ser), rs1240268455, ClinGen CA365775616, ClinVar RCV002861467, gnomAD rs1240268455, REVEL 0.60, CADD 24.70, Uncertain significance, Disseminated atypical mycobacterial infection
- A120T (p.Ala120Thr), Ensembl rs2114486612
- A120V (p.Ala120Val), Ensembl rs2114486593
- V121I (p.Val121Ile), Ensembl rs2114486576
- C122* (p.Cys122Ter), Ensembl rs1779421973
- C122F (p.Cys122Phe), ExAC rs758283269, gnomAD rs758283269
- R123* (p.Arg123Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, gnomAD rs1779421898, CADD 22.60, Variant assessed as somatic; high impact.
- R123Q (p.Arg123Gln), rs146914620, ClinGen CA4018991, cosmic curated COSV62990, ClinVar RCV000377483, REVEL 0.13, CADD 0.90, Uncertain significance, Immunodeficiency 27A
- D124E (p.Asp124Glu), rs1779421514, ClinGen CA365775584, ClinVar RCV002587410, Ensembl rs1779421514, REVEL 0.19, CADD 0.01, Uncertain significance, Disseminated atypical mycobacterial infection
- D124G (p.Asp124Gly), TOPMed rs546121815, gnomAD rs546121815, REVEL 0.29, CADD 23.00
- D124V (p.Asp124Val), TOPMed rs546121815, gnomAD rs546121815
- D124Y (p.Asp124Tyr), rs1779421721, ClinGen CA365775587, ClinVar RCV002241939, TOPMed rs1779421721, AlphaMissense 0.19, MetaLR 0.07, Uncertain significance, Disseminated atypical mycobacterial infection
- G125A (p.Gly125Ala), Ensembl rs2114480296
- G125R (p.Gly125Arg), Ensembl rs2114486465
- K126E (p.Lys126Glu), Ensembl rs1582635436
- K126T (p.Lys126Thr), gnomAD rs1779381835, REVEL 0.55, CADD 23.30
- I127L (p.Ile127Leu), rs911137606, ClinGen CA148229903, ClinVar RCV002608641, TOPMed rs911137606, AlphaMissense 0.19, MetaLR 0.09, Uncertain significance, Disseminated atypical mycobacterial infection
Public IFNGR1 analysis runs
- IFNGR1 analysis run — IFNGR1 (1,018 variants) — completed 2026-08-19