IL2RA (P01589) variants and mutations
IL2RA (also known as P01589) is a human protein-coding gene encoding an interleukin-2 receptor subunit alpha protein. It contributes to the high-affinity IL-2 receptor on activated T cells and regulatory T cells, supporting lymphocyte proliferation and immune tolerance. Loss-of-function variants can cause immunodeficiency with autoimmunity, while abnormal expression is therapeutically targeted in selected immune disorders. This analysis covers 506 IL2RA variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes immunodeficiency due to CD25 deficiency, multiple sclerosis, and type 1 diabetes mellitus. Example IL2RA variants include M1?, M1L, and D2E.
Variant analysis overview
- Gene: IL2RA
- Protein: P01589
- UniProt accession: P01589
- Organism: Homo sapiens
- Variants analyzed: 506
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 358 unspecified-consequence records; 66 synonymous variants; 4 in-frame deletions; 3 frameshift variants; 64 missense variants; 4 splice-region variants; 7 stop-gained variants
- Prediction scores: 406 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: immunodeficiency due to CD25 deficiency, multiple sclerosis, type 1 diabetes mellitus, primary cutaneous T-cell non-Hodgkin lymphoma, kidney transplant, rheumatoid arthritis, renal cell carcinoma, neoplasm, hypothyroidism, metastatic melanoma, asthma, Omenn syndrome.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 domains; 6 post-translational modification sites.
- Structural context: 280 variants have structural context.
- PTM context: 11 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, ClinGen, MaveDB, LitVar.
Notable IL2RA variants
Examples include M1?, M1L, D2E, D2Y, S3*, S3L, Y4*, Y4H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- M1L (p.Met1Leu), rs755829547, ClinGen CA375940579, ClinVar RCV002711413, MetaLR 0.24, MetaSVM -0.83, Uncertain significance, Immunodeficiency due to CD25 deficiency
- D2E (p.Asp2Glu), gnomAD rs1469971152, REVEL 0.02, CADD 0.20
- D2Y (p.Asp2Tyr), rs1406895472, ClinGen CA375940561, ClinVar RCV001228228, TOPMed rs1406895472, REVEL 0.04, CADD 15.40, Uncertain significance, Immunodeficiency due to CD25 deficiency
- S3* (p.Ser3Ter), NCI-TCGA Cosmic COSV5692, cosmic curated COSV56920, Variant assessed as somatic; high impact.
- S3L (p.Ser3Leu), NCI-TCGA Cosmic COSV5692, Variant assessed as somatic; moderate impact.
- Y4* (p.Tyr4Ter), TOPMed rs906899147
- Y4H (p.Tyr4His), rs1564556393, ClinGen CA375940533, ClinVar RCV002613541, gnomAD rs1564556393, REVEL 0.01, CADD 0.01, Uncertain significance, Immunodeficiency due to CD25 deficiency
- Y4N (p.Tyr4Asn), gnomAD rs1564556393, REVEL 0.01, CADD 0.01, Uncertain significance
- M7I (p.Met7Ile), rs1299907703, ClinGen CA375940497, ClinVar RCV002038027, TOPMed rs1299907703, REVEL 0.02, CADD 0.15, Uncertain significance, Immunodeficiency due to CD25 deficiency
- G9V (p.Gly9Val), Ensembl rs1840130800, REVEL 0.24, CADD 17.60
- L11F (p.Leu11Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L11I (p.Leu11Ile), TOPMed rs1170621521, gnomAD rs1170621521, REVEL 0.03, CADD 0.02
- L11P (p.Leu11Pro), ExAC rs750706858, gnomAD rs750706858, REVEL 0.16, CADD 16.40
- T12K (p.Thr12Lys), TOPMed rs1012971945, gnomAD rs1012971945
- T12M (p.Thr12Met), TOPMed rs1012971945, gnomAD rs1012971945, REVEL 0.08, CADD 20.30
- F13L (p.Phe13Leu), NCI-TCGA TCGA novel, Ensembl rs2132911849, REVEL 0.08, CADD 8.04, Variant assessed as somatic; moderate impact.
- F13Y (p.Phe13Tyr), rs2132911847, ClinGen CA375940432, ClinVar RCV002224919, Ensembl rs2132911847, AlphaMissense 0.22, MetaLR 0.12, Uncertain significance, not provided
- I14L (p.Ile14Leu), ExAC rs781222262, TOPMed rs781222262, gnomAD rs781222262, REVEL 0.03, AlphaMissense 0.09, Uncertain significance
- I14V (p.Ile14Val), rs781222262, ClinGen CA375940422, ClinVar RCV001902510, ExAC rs781222262, AlphaMissense 0.09, MetaLR 0.10, Uncertain significance, Immunodeficiency due to CD25 deficiency
- M15I (p.Met15Ile), rs74162092, ClinGen CA5397572, ClinVar RCV001872097, ExAC rs74162092, REVEL 0.04, CADD 2.77, Uncertain significance, Immunodeficiency due to CD25 deficiency
- V16L (p.Val16Leu), ExAC rs751620727, TOPMed rs751620727, gnomAD rs751620727, REVEL 0.12, CADD 14.50
- C19F (p.Cys19Phe), ExAC rs764712311, gnomAD rs764712311, Uncertain significance, Immunodeficiency due to CD25 deficiency
- C19Y (p.Cys19Tyr), NCI-TCGA Cosmic COSV5692, cosmic curated COSV56922, REVEL 0.07, CADD 5.83, Variant assessed as somatic; moderate impact.
- A21S (p.Ala21Ser), Ensembl rs1840130307
- E22G (p.Glu22Gly), Ensembl rs1839478853
- E22K (p.Glu22Lys), rs267602536, NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, ClinVar RCV006033922, REVEL 0.10, CADD 33.00, Malignant lymphoma, large b-cell, diffuse
- L23V (p.Leu23Val), ExAC rs751819134, gnomAD rs751819134
- C24* (p.Cys24Ter), gnomAD rs1362253385
- D25N (p.Asp25Asn), rs201995749, ClinGen CA5397552, ClinVar RCV003630157, 1000Genomes rs201995749, REVEL 0.09, CADD 8.54, Uncertain significance, Immunodeficiency due to CD25 deficiency
- D26H (p.Asp26His), rs55868253, ClinGen CA5397550, cosmic curated COSV10507, ClinVar RCV000641698, REVEL 0.04, CADD 1.20, Uncertain significance, Immunodeficiency due to CD25 deficiency; not provided
- D26N (p.Asp26Asn), rs55868253, ClinGen CA5397549, ClinVar RCV001318657, ESP rs55868253, REVEL 0.04, CADD 6.78, Uncertain significance, Immunodeficiency due to CD25 deficiency
- P28L (p.Pro28Leu), rs1054397968, ClinGen CA202296684, ClinVar RCV003831015, TOPMed rs1054397968, REVEL 0.46, CADD 20.70, Uncertain significance, Immunodeficiency due to CD25 deficiency
- P29L (p.Pro29Leu), rs148505161, ClinGen CA5397547, ClinVar RCV001309313, ESP rs148505161, REVEL 0.37, CADD 23.20, Uncertain significance, Immunodeficiency due to CD25 deficiency
- I31L (p.Ile31Leu), ESP rs372125213, ExAC rs372125213, TOPMed rs372125213, gnomAD rs372125213, REVEL 0.09, CADD 0.67
- P32T (p.Pro32Thr), Ensembl rs2132859430
- H33D (p.His33Asp), TOPMed rs1367374934, gnomAD rs1367374934, REVEL 0.16, CADD 0.01
- H33L (p.His33Leu), rs761518137, ClinGen CA5397545, cosmic curated COSV99906, ClinVar RCV004405236, AlphaMissense 0.20, MetaLR 0.09, Uncertain significance, not specified
- H33Q (p.His33Gln), NCI-TCGA Cosmic COSV5691, Variant assessed as somatic; moderate impact.
- H33R (p.His33Arg), ExAC rs761518137, gnomAD rs761518137, Uncertain significance
- A34T (p.Ala34Thr), rs773957702, ClinGen CA5397544, NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, REVEL 0.40, CADD 23.50, Conflicting interpretations, Immunodeficiency due to CD25 deficiency
- T35I (p.Thr35Ile), ExAC rs763638163, gnomAD rs763638163, REVEL 0.21, CADD 14.60
- F36I (p.Phe36Ile), TOPMed rs1262689195, gnomAD rs1262689195, REVEL 0.29, CADD 21.80
- F36S (p.Phe36Ser), rs1839477553, ClinGen CA375931097, ClinVar RCV001877624, ClinVar RCV004040608, AlphaMissense 0.71, MetaLR 0.14, Uncertain significance, not specified; Immunodeficiency due to CD25 deficiency
- A38T (p.Ala38Thr), gnomAD rs1191996028, REVEL 0.08, CADD 16.60
- A38V (p.Ala38Val), rs2539649948, ClinGen CA375931050, ClinVar RCV003630337, Uncertain significance, Immunodeficiency due to CD25 deficiency
- M39I (p.Met39Ile), rs146345652, ClinGen CA5397542, ClinVar RCV001337173, ClinVar RCV004035825, REVEL 0.06, CADD 0.31, Uncertain significance, not specified; Immunodeficiency due to CD25 deficiency
- M39T (p.Met39Thr), Ensembl rs1839477448
- A40T (p.Ala40Thr), NCI-TCGA TCGA novel, REVEL 0.09, CADD 0.00, Variant assessed as somatic; moderate impact.
- A40V (p.Ala40Val), TOPMed rs1839477323, gnomAD rs1839477323, REVEL 0.15, CADD 2.88
- Y41S (p.Tyr41Ser), rs796051888, ClinGen CA203914, ClinVar RCV000185642, UniProt VAR 074641, AlphaMissense 0.93, MetaLR 0.42, Pathogenic, Immunodeficiency due to CD25 deficiency
- K42R (p.Lys42Arg), rs142016545, ClinGen CA5397541, ClinVar RCV001321225, ClinVar RCV002476506, REVEL 0.20, CADD 18.00, Uncertain significance, Immunodeficiency due to CD25 deficiency; Type 1 diabetes mellitus 10
- E43K (p.Glu43Lys), NCI-TCGA Cosmic COSV5692, cosmic curated COSV56923, Variant assessed as somatic; moderate impact.
- G44* (p.Gly44Ter), NCI-TCGA Cosmic COSV5691, cosmic curated COSV56919, Variant assessed as somatic; high impact.
- G44R (p.Gly44Arg), NCI-TCGA Cosmic COSV5691, Variant assessed as somatic; moderate impact.
- M46R (p.Met46Arg), TOPMed rs979148208, REVEL 0.20, CADD 16.30, Uncertain significance
- M46T (p.Met46Thr), rs979148208, ClinGen CA202296659, ClinVar RCV001998136, TOPMed rs979148208, REVEL 0.10, CADD 4.02, Uncertain significance, Immunodeficiency due to CD25 deficiency
- L47S (p.Leu47Ser), ExAC rs769549397, gnomAD rs769549397, REVEL 0.42, CADD 23.00
- N48D (p.Asn48Asp), ExAC rs745686694, gnomAD rs745686694, REVEL 0.12, CADD 8.27
- C51* (p.Cys51Ter), TOPMed rs907714536, Likely benign
- C51R (p.Cys51Arg), Ensembl rs755535751
- C51S (p.Cys51Ser), rs2132859359, ClinGen CA375930645, ClinVar RCV001880508, Ensembl rs2132859359, REVEL 0.65, CADD 23.30, Uncertain significance, Immunodeficiency due to CD25 deficiency
- K52N (p.Lys52Asn), Ensembl rs983252219, NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, Variant assessed as somatic; moderate impact.
- R56C (p.Arg56Cys), rs1839476725, ClinGen CA375930527, cosmic curated COSV56922, ClinVar RCV001361025, REVEL 0.47, CADD 25.60, Uncertain significance, Immunodeficiency due to CD25 deficiency
- R56H (p.Arg56His), rs886047083, ClinGen CA10635576, NCI-TCGA Cosmic COSV5692, cosmic curated COSV56923, REVEL 0.37, CADD 24.50, Uncertain significance, Immunodeficiency due to CD25 deficiency
- R56S (p.Arg56Ser), TOPMed rs1839476725, Uncertain significance
- R57S (p.Arg57Ser), rs1175936796, ClinGen CA375930497, ClinVar RCV001874918, TOPMed rs1175936796, REVEL 0.38, CADD 22.10, Uncertain significance, Immunodeficiency due to CD25 deficiency
- R57T (p.Arg57Thr), NCI-TCGA Cosmic COSV5691, cosmic curated COSV56919, Variant assessed as somatic; moderate impact.
- S60I (p.Ser60Ile), rs1489675522, ClinGen CA375930428, ClinVar RCV003514777, Ensembl rs1489675522, REVEL 0.25, CADD 7.75, Uncertain significance, Immunodeficiency due to CD25 deficiency
- S60R (p.Ser60Arg), ESP rs74162093, ExAC rs74162093, gnomAD rs74162093, Uncertain significance
- G61R (p.Gly61Arg), rs201617475, ClinGen CA5397536, ClinVar RCV003008919, ClinVar RCV006281127, REVEL 0.15, CADD 18.80, Uncertain significance, Immunodeficiency due to CD25 deficiency; not provided
- G61V (p.Gly61Val), rs1589295770, ClinGen CA375930391, cosmic curated COSV56923, ClinVar RCV000807888, AlphaMissense 0.36, MetaLR 0.24, Uncertain significance, Immunodeficiency due to CD25 deficiency
- L63P (p.Leu63Pro), rs1839476159, ClinGen CA375930338, ClinVar RCV002790790, TOPMed rs1839476159, REVEL 0.29, CADD 7.03, Uncertain significance, Immunodeficiency due to CD25 deficiency
- Y64C (p.Tyr64Cys), rs2132859282, ClinGen CA375930308, ClinVar RCV001866344, Ensembl rs2132859282, AlphaMissense 0.62, MetaLR 0.28, Uncertain significance, Immunodeficiency due to CD25 deficiency
- Y64H (p.Tyr64His), rs1397929277, ClinGen CA375930326, ClinVar RCV002750195, REVEL 0.24, CADD 22.70, Uncertain significance, Immunodeficiency due to CD25 deficiency
- Y64N (p.Tyr64Asn), gnomAD rs1397929277, REVEL 0.27, CADD 22.80
- M65I (p.Met65Ile), rs1589295742, ClinGen CA375930275, ClinVar RCV003515181, Ensembl rs1589295742, REVEL 0.05, CADD 5.93, Uncertain significance, Immunodeficiency due to CD25 deficiency
- M65T (p.Met65Thr), gnomAD rs1303759510, REVEL 0.34, CADD 19.50
- M65V (p.Met65Val), rs372359952, ClinGen CA202296622, ClinVar RCV000641700, ClinVar RCV004025625, REVEL 0.07, CADD 10.80, Uncertain significance, Immunodeficiency due to CD25 deficiency; not specified
- C67Y (p.Cys67Tyr), gnomAD rs1163208597, REVEL 0.65, CADD 23.10
- T68I (p.Thr68Ile), rs1839475742, ClinGen CA375930175, ClinVar RCV003047703, Ensembl rs1839475742, AlphaMissense 0.21, MetaLR 0.18, Uncertain significance, Immunodeficiency due to CD25 deficiency
- G69E (p.Gly69Glu), cosmic curated COSV56921, Ensembl rs1589295726, REVEL 0.21, CADD 16.60
- G69R (p.Gly69Arg), ExAC rs779481535, gnomAD rs779481535, REVEL 0.29, CADD 23.10
- N70I (p.Asn70Ile), cosmic curated COSV10507, gnomAD rs1172654832
- N70T (p.Asn70Thr), gnomAD rs1172654832, REVEL 0.03, CADD 18.30
- S71C (p.Ser71Cys), ExAC rs766766658, TOPMed rs766766658, gnomAD rs766766658, REVEL 0.17, CADD 22.60
- S71F (p.Ser71Phe), cosmic curated COSV10631, ExAC rs766766658, TOPMed rs766766658, gnomAD rs766766658
- S72G (p.Ser72Gly), NCI-TCGA Cosmic COSV5691, cosmic curated COSV56919, REVEL 0.09, CADD 15.70, Variant assessed as somatic; moderate impact.
- S72R (p.Ser72Arg), gnomAD rs1462904435, REVEL 0.12, CADD 21.80
- S72T (p.Ser72Thr), gnomAD rs1168773094, REVEL 0.11, CADD 18.80
- H73L (p.His73Leu), TOPMed rs913717515
- H73Y (p.His73Tyr), gnomAD rs1375177673, REVEL 0.20, CADD 15.00
- S74L (p.Ser74Leu), rs756444069, ClinGen CA5397528, cosmic curated COSV99906, ClinVar RCV001314164, REVEL 0.22, CADD 10.60, Uncertain significance, Immunodeficiency due to CD25 deficiency
- W76* (p.Trp76Ter), rs2539649661, ClinGen CA375929933, ClinVar RCV002881206, Pathogenic
- W76G (p.Trp76Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D77N (p.Asp77Asn), rs1839474866, ClinGen CA375929896, ClinVar RCV001047436, Ensembl rs1839474866, AlphaMissense 0.11, MetaLR 0.11, Uncertain significance, Immunodeficiency due to CD25 deficiency
- N78T (p.Asn78Thr), TOPMed rs1191171742, gnomAD rs1191171742, REVEL 0.09, CADD 14.90
- Q79K (p.Gln79Lys), TOPMed rs1839474766, REVEL 0.10, CADD 0.09
- Q79R (p.Gln79Arg), ExAC rs763695218, gnomAD rs763695218, REVEL 0.07, CADD 2.21
- Q81H (p.Gln81His), TOPMed rs1206012747, gnomAD rs1206012747, REVEL 0.14, CADD 1.30
- Q81R (p.Gln81Arg), ExAC rs762527969, gnomAD rs762527969, REVEL 0.03, CADD 15.20
- C82* (p.Cys82Ter), rs774803573, ClinGen CA375929659, ClinVar RCV000814187, ExAC rs774803573, Pathogenic
- C82F (p.Cys82Phe), NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, Variant assessed as somatic; moderate impact.
- T83R (p.Thr83Arg), TOPMed rs1839474428, Uncertain significance, Immunodeficiency due to CD25 deficiency
- S84R (p.Ser84Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S84T (p.Ser84Thr), rs1839474377, ClinGen CA375929631, ClinVar RCV001338932, gnomAD rs1839474377, REVEL 0.02, CADD 7.69, Uncertain significance, Immunodeficiency due to CD25 deficiency
- S85F (p.Ser85Phe), NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, Ensembl rs1589295649, Variant assessed as somatic; moderate impact.
- S85T (p.Ser85Thr), gnomAD rs1216411295, REVEL 0.05, CADD 0.09
- A86P (p.Ala86Pro), NCI-TCGA Cosmic COSV5692, cosmic curated COSV56920, Variant assessed as somatic; moderate impact.
- T87A (p.Thr87Ala), TOPMed rs1232381897, gnomAD rs1232381897, REVEL 0.03, CADD 0.00
- T87S (p.Thr87Ser), TOPMed rs1232381897, gnomAD rs1232381897, REVEL 0.05, CADD 0.00, Uncertain significance, Immunodeficiency due to CD25 deficiency
- R88G (p.Arg88Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R88P (p.Arg88Pro), rs139340259, ClinGen CA5397504, ClinVar RCV002603096, ClinVar RCV005353111, REVEL 0.17, CADD 6.70, Uncertain significance, not specified; Immunodeficiency due to CD25 deficiency
- R88Q (p.Arg88Gln), rs139340259, ClinGen CA5397505, cosmic curated COSV10437, ClinVar RCV000794961, REVEL 0.02, CADD 5.20, Uncertain significance, Immunodeficiency due to CD25 deficiency; not specified
- R88W (p.Arg88Trp), rs919412627, ClinGen CA202295672, ClinVar RCV001365737, ClinVar RCV006424784, REVEL 0.06, CADD 5.52, Uncertain significance, not specified; Immunodeficiency due to CD25 deficiency
- T91A (p.Thr91Ala), rs753853235, NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, ExAC rs753853235, REVEL 0.01, CADD 0.09, Variant assessed as somatic; moderate impact.
- T91M (p.Thr91Met), rs72650666, ClinGen CA5397502, ClinVar RCV000498899, ClinVar RCV001083317, REVEL 0.07, CADD 2.24, Conflicting interpretations, not provided; Immunodeficiency due to CD25 deficiency
- V94A (p.Val94Ala), ExAC rs761978980, gnomAD rs761978980, REVEL 0.02, CADD 9.76
- V94E (p.Val94Glu), ExAC rs761978980, gnomAD rs761978980
- V94M (p.Val94Met), rs771893707, ClinGen CA5397499, ClinVar RCV001040555, ClinVar RCV005851673, REVEL 0.05, CADD 21.30, Uncertain significance, Immunodeficiency due to CD25 deficiency; not specified
- T95I (p.Thr95Ile), TOPMed rs1839442637, REVEL 0.04, CADD 22.40
- P96L (p.Pro96Leu), gnomAD rs1302422521, REVEL 0.12, CADD 18.60
- P96R (p.Pro96Arg), gnomAD rs1302422521, REVEL 0.10, CADD 22.00
- Q97E (p.Gln97Glu), NCI-TCGA Cosmic COSV5692, cosmic curated COSV56921, Variant assessed as somatic; moderate impact.
- P98H (p.Pro98His), gnomAD rs1464908758, REVEL 0.07, CADD 20.90
- E99D (p.Glu99Asp), rs201105599, ClinGen CA5397496, ClinVar RCV000700724, ClinVar RCV004026525, REVEL 0.04, CADD 16.00, Uncertain significance, not specified; not provided; Immunodeficiency due to CD25 deficiency
- E100G (p.Glu100Gly), rs1839442132, ClinGen CA375928332, ClinVar RCV003878951, ClinVar RCV004634406, REVEL 0.06, CADD 12.70, Uncertain significance, Immunodeficiency due to CD25 deficiency; not specified
- Q101* (p.Gln101Ter), rs886041037, ClinGen CA10602389, ClinVar RCV000185639, ClinVar RCV001818449, AlphaMissense 0.07, MetaLR 0.12, Pathogenic
- Q101E (p.Gln101Glu), rs886041037, ClinGen CA375928316, ClinVar RCV001959415, TOPMed rs886041037, AlphaMissense 0.07, MetaLR 0.12, Uncertain significance, Immunodeficiency due to CD25 deficiency
- K102Q (p.Lys102Gln), gnomAD rs1160524305, REVEL 0.01, CADD 8.89
- K102R (p.Lys102Arg), ExAC rs749326313, gnomAD rs749326313, REVEL 0.02, CADD 9.44
- E103K (p.Glu103Lys), NCI-TCGA Cosmic COSV5692, NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, REVEL 0.03, CADD 8.09, Variant assessed as somatic; moderate impact.
- E103V (p.Glu103Val), ExAC rs780542426, TOPMed rs780542426, gnomAD rs780542426
- R104K (p.Arg104Lys), cosmic curated COSV10631, TOPMed rs1406426330, REVEL 0.01, CADD 0.66
- E108* (p.Glu108Ter), NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, Variant assessed as somatic; high impact.
- M109I (p.Met109Ile), Ensembl rs2132857185
- M109T (p.Met109Thr), TOPMed rs1176277980, gnomAD rs1176277980, REVEL 0.03, CADD 1.42, Uncertain significance, Immunodeficiency due to CD25 deficiency
- M109V (p.Met109Val), rs1839441522, ClinGen CA375928114, ClinVar RCV004146272, Ensembl rs1839441522, AlphaMissense 0.11, MetaLR 0.08, Uncertain significance, not specified
- Q110E (p.Gln110Glu), rs1839441418, ClinGen CA375928094, ClinVar RCV001106478, Ensembl rs1839441418, AlphaMissense 0.09, MetaLR 0.14, Uncertain significance, Immunodeficiency due to CD25 deficiency
- Q110L (p.Gln110Leu), TOPMed rs1445854585, gnomAD rs1445854585, REVEL 0.07, CADD 9.36
- S111N (p.Ser111Asn), rs56054476, ClinGen CA5397492, ClinVar RCV000812221, ClinVar RCV004028763, REVEL 0.02, CADD 3.27, Uncertain significance, not specified; Immunodeficiency due to CD25 deficiency
- P112S (p.Pro112Ser), TOPMed rs1328875036, gnomAD rs1328875036, REVEL 0.04, CADD 5.97
- M113I (p.Met113Ile), gnomAD rs1482173927, REVEL 0.02, CADD 1.75
- M113R (p.Met113Arg), Ensembl rs76029930
- M113V (p.Met113Val), rs781478336, ClinGen CA5397491, ClinVar RCV000697017, ExAC rs781478336, REVEL 0.07, CADD 0.01, Uncertain significance, Immunodeficiency due to CD25 deficiency
- Q114* (p.Gln114Ter), gnomAD rs1262248139, CADD 35.00
- V116A (p.Val116Ala), rs74162095, ClinGen CA202295605, ClinVar RCV001218513, TOPMed rs74162095, REVEL 0.01, CADD 0.07, Uncertain significance, Immunodeficiency due to CD25 deficiency
- D117N (p.Asp117Asn), TOPMed rs1392523029, gnomAD rs1392523029, REVEL 0.03, CADD 9.74
- Q118E (p.Gln118Glu), TOPMed rs1228843999, gnomAD rs1228843999, REVEL 0.02, CADD 5.98
- A119E (p.Ala119Glu), cosmic curated COSV10722, ESP rs138645280, ExAC rs138645280, gnomAD rs138645280, REVEL 0.08, CADD 0.00, Uncertain significance
- A119T (p.Ala119Thr), gnomAD rs1341125745, REVEL 0.02, CADD 1.85
- A119V (p.Ala119Val), rs138645280, ClinGen CA5397488, ClinVar RCV002761486, ClinVar RCV005928478, REVEL 0.06, CADD 0.00, Uncertain significance, Immunodeficiency due to CD25 deficiency
- S120N (p.Ser120Asn), rs2132857128, ClinGen CA375927939, ClinVar RCV002031126, Ensembl rs2132857128, REVEL 0.05, CADD 0.71, Uncertain significance, Immunodeficiency due to CD25 deficiency
- S120R (p.Ser120Arg), gnomAD rs1364586699, REVEL 0.04, CADD 6.20
- L121V (p.Leu121Val), gnomAD rs1299218705, REVEL 0.10, CADD 19.40
- P122A (p.Pro122Ala), ExAC rs753336611, gnomAD rs753336611, REVEL 0.07, CADD 2.37
- H124R (p.His124Arg), gnomAD 10-6021690-T-C, REVEL 0.23, MetaLR 0.17
- H124N (p.His124Asn), gnomAD 10-6021691-G-T, REVEL 0.21, MetaLR 0.10
- C125* (p.Cys125Ter), Ensembl rs2132854016, CADD 36.00
- C125F (p.Cys125Phe), rs1839390431, ClinGen CA375927005, ClinVar RCV001365275, TOPMed rs1839390431, REVEL 0.86, CADD 25.30, Uncertain significance, Immunodeficiency due to CD25 deficiency
- C125Y (p.Cys125Tyr), TOPMed rs1839390431, gnomAD rs1839390431, REVEL 0.86, CADD 25.30, Uncertain significance
- R126G (p.Arg126Gly), TOPMed rs1839390385
- R126K (p.Arg126Lys), gnomAD rs1234367529, REVEL 0.04, CADD 7.00
- E127D (p.Glu127Asp), TOPMed rs1404513355, REVEL 0.18, CADD 19.40, Uncertain significance, not specified
- E127K (p.Glu127Lys), NCI-TCGA Cosmic COSV9990, cosmic curated COSV99906, Variant assessed as somatic; moderate impact.
- E127* (p.Glu127Ter), gnomAD 10-6021682-C-A, CADD 42.00
- P128S (p.Pro128Ser), ExAC rs747351412, gnomAD rs747351412, REVEL 0.65, CADD 24.60
- P128T (p.Pro128Thr), ExAC rs747351412, gnomAD rs747351412, REVEL 0.68, CADD 24.50
- P128P (p.Pro128Pro), rs773687056, gnomAD 10-6021677-A-G, CADD 7.80
- P129L (p.Pro129Leu), Ensembl rs1839390083
- P129S (p.Pro129Ser), NCI-TCGA Cosmic COSV5692, cosmic curated COSV56922, NCI-TCGA Cosmic COSV9990, REVEL 0.30, CADD 22.60, Variant assessed as somatic; moderate impact.
- P129T (p.Pro129Thr), cosmic curated COSV99906, ExAC rs772563186, gnomAD rs772563186, REVEL 0.32, CADD 23.50
- P130L (p.Pro130Leu), gnomAD rs1401837237, REVEL 0.22, AlphaMissense 0.08
- P130Q (p.Pro130Gln), rs1401837237, ClinGen CA375926913, ClinVar RCV003031492, AlphaMissense 0.08, MetaLR 0.25, Uncertain significance, Immunodeficiency due to CD25 deficiency
- P130T (p.Pro130Thr), TOPMed rs1337506970
- P130P (p.Pro130Pro), rs2132853922, gnomAD 10-6021671-T-C, CADD 0.04
- W131* (p.Trp131Ter), NCI-TCGA Cosmic COSV5691, cosmic curated COSV56919, CADD 37.00, Variant assessed as somatic; high impact.
- W131C (p.Trp131Cys), ExAC rs755713136
- W131G (p.Trp131Gly), ExAC rs779802160, TOPMed rs779802160, gnomAD rs779802160, REVEL 0.42, CADD 25.50
- W131R (p.Trp131Arg), ExAC rs779802160, TOPMed rs779802160, gnomAD rs779802160, REVEL 0.41, CADD 24.50, Uncertain significance, Immunodeficiency due to CD25 deficiency
Public IL2RA analysis runs
- IL2RA analysis run — IL2RA (506 variants) — completed 2026-08-19