ADA (Adenosine deaminase) variants and mutations
ADA (also known as Adenosine deaminase) is a human protein-coding gene encoding an adenosine deaminase protein. It degrades adenosine and deoxyadenosine, preventing accumulation of metabolites that are particularly toxic to developing lymphocytes. Biallelic deficiency causes severe combined immunodeficiency, while partial deficiency can present later with immune dysfunction. This analysis covers 700 ADA variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Severe combined immunodeficiency due to adenosine deaminase deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n, and severe combined immunodeficiency. Example ADA variants include M1R, M1V, and M1I.
Variant analysis overview
- Gene: ADA
- Protein: Adenosine deaminase
- UniProt accession: P00813
- Organism: Homo sapiens
- Variants analyzed: 700
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 511 unspecified-consequence records; 1 stop lost; 1 stop retained variant; 81 synonymous variants; 73 missense variants; 13 frameshift variants; 5 splice-region variants; 3 in-frame deletions; 3 stop-gained variants; 1 protein altering variant; 1 in-frame insertions; 7 substitution
- Prediction scores: 543 variants have prediction scores (78% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Severe combined immunodeficiency due to adenosine deaminase deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n, severe combined immunodeficiency, partial adenosine deaminase deficiency, Omenn syndrome, T-B+ severe combined immunodeficiency, T-B- severe combined immunodeficiency, hairy cell leukemia, neoplasm, anemia, type 2 diabetes mellitus, B-cell chronic lymphocytic leukemia.
Protein structure and variant hotspots
- Protein features: 8 binding sites; 3 post-translational modification sites.
- PTM context: 5 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 ADA variants
Examples include M1R, M1V, M1I, A2V, Q3*, T4K, P5S, A6P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1R (p.Met1Arg), rs1600956379, ClinGen CA409122633, ClinVar RCV003498965, Uncertain significance, Severe combined immunodeficiency disease
- M1V (p.Met1Val), rs1363043396, ClinGen CA409122637, ClinVar RCV001378051, Pathogenic/Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- M1I (p.Met1Ile), rs781241465, []
- A2V (p.Ala2Val), TOPMed rs1319968268, gnomAD rs1319968268, REVEL 0.28, CADD 23.20
- Q3* (p.Gln3Ter), rs1057520217, ClinGen CA16607987, ClinVar RCV000433743, ClinVar RCV000687426, CADD 38.00, Pathogenic
- T4K (p.Thr4Lys), gnomAD rs2065647035, REVEL 0.26, CADD 19.20
- P5S (p.Pro5Ser), gnomAD rs1464312281, REVEL 0.20, CADD 24.10
- A6P (p.Ala6Pro), TOPMed rs956908942, gnomAD rs956908942, REVEL 0.50, CADD 22.90, Uncertain significance
- A6S (p.Ala6Ser), rs956908942, ClinGen CA315457238, ClinVar RCV003061441, TOPMed rs956908942, REVEL 0.22, CADD 19.80, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- F7L (p.Phe7Leu), rs2516234946, ClinGen CA409122599, ClinVar RCV002913911, REVEL 0.48, CADD 27.10, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- D8H (p.Asp8His), 1000Genomes rs73598374, ESP rs73598374, ExAC rs73598374, TOPMed rs73598374, REVEL 0.37, CADD 24.20, Pathogenic
- D8N (p.Asp8Asn), rs73598374, ClinGen CA115289, cosmic curated COSV54859, ClinVar RCV000002050, REVEL 0.32, CADD 15.90, Benign, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- D8Y (p.Asp8Tyr), 1000Genomes rs73598374, ESP rs73598374, ExAC rs73598374, TOPMed rs73598374, REVEL 0.57, CADD 23.90, Pathogenic
- V12=, rs394105, ClinVar RCV000590787, ClinVar RCV001082526, Benign
- V12M (p.Val12Met), NCI-TCGA Cosmic COSV6574, cosmic curated COSV65740, REVEL 0.87, CADD 26.00, Variant assessed as somatic; moderate impact.
- E13K (p.Glu13Lys), rs2145338174, ClinGen CA2573157145, ClinVar RCV002039064, Ensembl rs2145338174, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- H15D (p.His15Asp), rs121908725, ClinGen CA266012, ClinVar RCV000059102, ClinVar RCV000429669, REVEL 0.96, CADD 25.40, Pathogenic/Likely pathogenic, not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- H15L (p.His15Leu), rs1209280928, ClinGen CA409122529, ClinVar RCV000790400, gnomAD rs1209280928, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- H15P (p.His15Pro), gnomAD rs1209280928, REVEL 0.95, CADD 25.00, Pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- V16A (p.Val16Ala), TOPMed rs1330122216, gnomAD rs1330122216, REVEL 0.69, CADD 23.80
- V16D (p.Val16Asp), TOPMed rs1330122216, gnomAD rs1330122216, REVEL 0.84, CADD 26.30
- H17Q (p.His17Gln), TOPMed rs1379847464, gnomAD rs1379847464, REVEL 0.95, CADD 23.50
- H17Y (p.His17Tyr), rs1270198057, ClinGen CA409122516, ClinVar RCV003036019, gnomAD rs1270198057, REVEL 0.95, CADD 25.40, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- D19E (p.Asp19Glu), rs762695968, ClinGen CA9871787, ClinVar RCV000796546, ExAC rs762695968, REVEL 0.78, CADD 20.80, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- D19N (p.Asp19Asn), cosmic curated COSV65740, TOPMed rs1454861940, gnomAD rs1454861940, REVEL 0.84, CADD 25.60
- D19V (p.Asp19Val), rs2516197070, ClinGen CA409122500, ClinVar RCV003312536, Likely pathogenic, not provided
- G20R (p.Gly20Arg), rs121908724, ClinGen CA266020, ClinVar RCV000059109, ClinVar RCV000494092, REVEL 0.98, CADD 27.60, Pathogenic/Likely pathogenic, not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- S21A (p.Ser21Ala), rs139350872, ClinGen CA9871785, ClinVar RCV000690764, ClinVar RCV001507463, REVEL 0.30, CADD 6.51, Uncertain significance, not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- S21C (p.Ser21Cys), ExAC rs765144557, gnomAD rs765144557, REVEL 0.53, CADD 23.20
- S21F (p.Ser21Phe), cosmic curated COSV65740, ExAC rs765144557, gnomAD rs765144557
- I22F (p.Ile22Phe), gnomAD rs1321058509, REVEL 0.83, CADD 23.80
- I22M (p.Ile22Met), NCI-TCGA Cosmic COSV6574, cosmic curated COSV65740, Variant assessed as somatic; moderate impact.
- P24T (p.Pro24Thr), ExAC rs761815086, REVEL 0.62, CADD 19.60
- T26I (p.Thr26Ile), Ensembl rs1004808726
- T26P (p.Thr26Pro), rs2516196974, ClinGen CA409122462, ClinVar RCV003023344, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- I27T (p.Ile27Thr), gnomAD rs1455312539, REVEL 0.96, CADD 26.80
- I27V (p.Ile27Val), ESP rs376138229, ExAC rs376138229, gnomAD rs376138229, REVEL 0.43, CADD 22.20, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- L28* (p.Leu28Ter), rs2516196919, ClinGen CA409122450, ClinVar RCV002308146, Likely pathogenic
- L28V (p.Leu28Val), 1000Genomes rs199886437, ExAC rs199886437, TOPMed rs199886437, gnomAD rs199886437, REVEL 0.48, CADD 20.20
- Y29* (p.Tyr29Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10086, Variant assessed as somatic; high impact.
- Y29C (p.Tyr29Cys), ExAC rs746622099, gnomAD rs746622099, REVEL 0.68, CADD 25.10
- Y30C (p.Tyr30Cys), rs759080719, ClinGen CA9871778, ClinVar RCV001065351, ExAC rs759080719, REVEL 0.66, CADD 23.30, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Y30H (p.Tyr30His), rs775324175, ClinGen CA9871779, ClinVar RCV001844692, ExAC rs775324175, REVEL 0.59, CADD 24.60, Uncertain significance, not specified
- G31S (p.Gly31Ser), Ensembl rs2065478672
- R32K (p.Arg32Lys), TOPMed rs1356820014, REVEL 0.29, CADD 17.60
- R32M (p.Arg32Met), NCI-TCGA Cosmic COSV6574, cosmic curated COSV65740, Variant assessed as somatic; moderate impact.
- R32S (p.Arg32Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R33K (p.Arg33Lys), cosmic curated COSV65740, ExAC rs773388108, gnomAD rs773388108, REVEL 0.27, CADD 15.00
- R33S (p.Arg33Ser), NCI-TCGA Cosmic COSV6574, cosmic curated COSV65740, REVEL 0.39, CADD 20.40, Variant assessed as somatic; moderate impact.
- R34T (p.Arg34Thr), TOPMed rs1251027847, REVEL 0.71, CADD 25.10
- G35R (p.Gly35Arg), rs376909062, ESP rs376909062, TOPMed rs376909062, gnomAD rs376909062, REVEL 0.80, CADD 24.70, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- I36L (p.Ile36Leu), gnomAD rs1431003280, REVEL 0.41, CADD 9.64
- I36M (p.Ile36Met), ExAC rs748611869, TOPMed rs748611869, gnomAD rs748611869, REVEL 0.56, CADD 14.30, Likely benign
- I36T (p.Ile36Thr), ExAC rs770213537, gnomAD rs770213537, REVEL 0.79, CADD 24.30
- A37T (p.Ala37Thr), rs1044335093, ClinGen CA315443583, ClinVar RCV002736300, TOPMed rs1044335093, REVEL 0.22, CADD 0.01, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A37V (p.Ala37Val), rs151336936, ClinGen CA9871756, ClinVar RCV000608642, ClinVar RCV000644515, REVEL 0.24, CADD 15.00, Likely benign, not specified; Severe combined immunodeficiency, autosomal recessive, T cell-neg
- L38F (p.Leu38Phe), 1000Genomes rs199961890, REVEL 0.80, CADD 24.30
- P39A (p.Pro39Ala), rs2065409743, ClinGen CA409121926, ClinVar RCV001142657, Ensembl rs2065409743, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- N41D (p.Asn41Asp), gnomAD rs2065409692, REVEL 0.29, CADD 0.17
- T42I (p.Thr42Ile), ExAC rs780318972, TOPMed rs780318972, gnomAD rs780318972, REVEL 0.77, CADD 24.90, Uncertain significance
- T42R (p.Thr42Arg), rs780318972, ClinGen CA9871753, ClinVar RCV001822375, ClinVar RCV002542647, REVEL 0.82, CADD 24.70, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A43E (p.Ala43Glu), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10086, Variant assessed as somatic; moderate impact.
- A43G (p.Ala43Gly), TOPMed rs2065409611, Uncertain significance, Inborn genetic diseases
- A43T (p.Ala43Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E44D (p.Glu44Asp), NCI-TCGA TCGA novel, gnomAD rs2065409585, REVEL 0.34, CADD 7.85, Likely benign
- E44G (p.Glu44Gly), Ensembl rs2145324827, REVEL 0.47, CADD 19.30
- G45E (p.Gly45Glu), TOPMed rs1363563144, gnomAD rs1363563144, REVEL 0.34, CADD 0.02
- N48K (p.Asn48Lys), 1000Genomes rs189751145, ExAC rs189751145, TOPMed rs189751145, gnomAD rs189751145, REVEL 0.21, CADD 0.51, Likely benign
- N48R (p.Asn48Arg), rs2516181122, ClinGen CA2580098231, ClinVar RCV002309645, Likely pathogenic
- N48S (p.Asn48Ser), gnomAD rs1276626543, REVEL 0.17, CADD 1.82
- V49I (p.Val49Ile), rs1306348962, ClinGen CA409121864, ClinVar RCV001142656, TOPMed rs1306348962, REVEL 0.17, CADD 0.01, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- I50T (p.Ile50Thr), rs1057460440, ClinGen CA315443567, ClinVar RCV001886375, TOPMed rs1057460440, REVEL 0.86, CADD 24.30, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- M52K (p.Met52Lys), gnomAD rs934757654, REVEL 0.59, CADD 18.30
- M52L (p.Met52Leu), rs2065409254, ClinGen CA409121844, ClinVar RCV001318050, Ensembl rs2065409254, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- M52R (p.Met52Arg), gnomAD rs934757654, REVEL 0.66, CADD 22.90
- D53H (p.Asp53His), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10086, NCI-TCGA Cosmic COSV6573, Variant assessed as somatic; moderate impact.
- D53N (p.Asp53Asn), TOPMed rs1294381082
- D53Y (p.Asp53Tyr), NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6573, cosmic curated COSV65739, Variant assessed as somatic; moderate impact.
- K54M (p.Lys54Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K54R (p.Lys54Arg), ExAC rs750682305, TOPMed rs750682305, gnomAD rs750682305, REVEL 0.37, CADD 19.10, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- P55L (p.Pro55Leu), cosmic curated COSV65740, ExAC rs77588173, TOPMed rs77588173, gnomAD rs77588173, REVEL 0.71, CADD 23.10
- T57S (p.Thr57Ser), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10086, Variant assessed as somatic; moderate impact.
- P59A (p.Pro59Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P59Q (p.Pro59Gln), TOPMed rs2065408890, gnomAD rs2065408890, REVEL 0.45, CADD 18.60
- D60A (p.Asp60Ala), ExAC rs760262095, TOPMed rs760262095, gnomAD rs760262095, REVEL 0.26, CADD 0.00, Uncertain significance
- D60G (p.Asp60Gly), rs760262095, ClinGen CA9871746, ClinVar RCV001754696, ClinVar RCV002540350, REVEL 0.30, CADD 0.00, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- F61L (p.Phe61Leu), ExAC rs752086551, gnomAD rs752086551, REVEL 0.89, CADD 24.10
- L62P (p.Leu62Pro), TOPMed rs2065408768
- K64E (p.Lys64Glu), rs2516180920, ClinGen CA409121769, ClinVar RCV003045869, REVEL 0.75, CADD 23.20, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- F65S (p.Phe65Ser), ExAC rs774080917, gnomAD rs774080917, REVEL 0.96, CADD 29.60
- D66N (p.Asp66Asn), Ensembl rs2065408643
- D66Y (p.Asp66Tyr), Ensembl rs2065408643, REVEL 0.49, CADD 18.40
- Y67* (p.Tyr67Ter), rs1419063255, ClinGen CA409121739, ClinVar RCV001388888, TOPMed rs1419063255, Likely pathogenic
- P70S (p.Pro70Ser), TOPMed rs968895664, gnomAD rs968895664, REVEL 0.77, CADD 24.60
- A71V (p.Ala71Val), ExAC rs762213530, gnomAD rs762213530, REVEL 0.28, CADD 10.20
- I72=, rs769218320, NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; low impact.
- I72F (p.Ile72Phe), ESP rs148785262, ExAC rs148785262, TOPMed rs148785262, gnomAD rs148785262, REVEL 0.81, CADD 25.90, Uncertain significance
- I72V (p.Ile72Val), rs148785262, ClinGen CA9871739, ClinVar RCV003841566, ESP rs148785262, REVEL 0.38, CADD 20.10, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A73T (p.Ala73Thr), rs921477673, ClinGen CA315443459, NCI-TCGA Cosmic COSV6574, cosmic curated COSV65740, REVEL 0.67, CADD 25.70, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A73V (p.Ala73Val), rs747528590, ClinGen CA9871737, cosmic curated COSV10971, ClinVar RCV003095658, REVEL 0.54, CADD 23.60, Uncertain significance, not specified; Severe combined immunodeficiency, autosomal recessive, T cell-neg
- G74C (p.Gly74Cys), rs121908730, ClinGen CA265999, ClinVar RCV000059095, UniProt VAR 002212, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- G74D (p.Gly74Asp), rs199422328, ClinGen CA409121561, ClinVar RCV003064605, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- G74V (p.Gly74Val), rs199422328, ClinGen CA252016, ClinVar RCV000002054, ClinVar RCV006263612, REVEL 0.91, CADD 25.40, Pathogenic/Likely pathogenic, Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- C75W (p.Cys75Trp), rs2065384997, ClinGen CA409121552, ClinVar RCV001980820, gnomAD rs2065384997, REVEL 0.68, CADD 26.40, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- C75Y (p.Cys75Tyr), rs2065385037, ClinGen CA409121556, ClinVar RCV001070163, ClinVar RCV006302260, REVEL 0.39, CADD 12.80, Uncertain significance, Inborn genetic diseases; Severe combined immunodeficiency, autosomal recessive
- R76Q (p.Arg76Gln), rs374983783, ClinGen CA9871723, ClinVar RCV001324720, ESP rs374983783, REVEL 0.81, CADD 27.00, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- R76W (p.Arg76Trp), rs121908736, ClinGen CA115279, ClinVar RCV000002039, ClinVar RCV000059096, REVEL 0.95, CADD 28.80, Uncertain significance, not specified; not provided; Severe combined immunodeficiency, autosomal recessi
- A78T (p.Ala78Thr), TOPMed rs1445758422, gnomAD rs1445758422, REVEL 0.87, CADD 26.20
- I79S (p.Ile79Ser), Ensembl rs2065384852
- K80R (p.Lys80Arg), rs11555566, ClinGen CA251993, cosmic curated COSV65739, ClinVar RCV000002031, REVEL 0.29, CADD 19.30, Benign, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- R81M (p.Arg81Met), gnomAD rs1425739099, REVEL 0.95, CADD 27.00
- R81S (p.Arg81Ser), TOPMed rs2065384739, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- I82N (p.Ile82Asn), gnomAD rs1192450607, REVEL 0.90, CADD 25.70
- A83D (p.Ala83Asp), rs121908726, ClinGen CA266001, ClinVar RCV000059097, UniProt VAR 002215, not provided, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A83G (p.Ala83Gly), rs121908726, ClinGen CA315442127, ClinVar RCV001982146, ESP rs121908726, REVEL 0.89, CADD 26.30, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- A83T (p.Ala83Thr), rs776103734, ClinGen CA9871721, NCI-TCGA Cosmic COSV6574, cosmic curated COSV65741, REVEL 0.86, CADD 25.30, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Y84C (p.Tyr84Cys), rs772021681, ClinGen CA9871720, ClinVar RCV001998374, ClinVar RCV005865532, REVEL 0.90, CADD 26.10, Uncertain significance, not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- V87A (p.Val87Ala), rs778994749, ClinGen CA9871718, ClinVar RCV000694687, ExAC rs778994749, REVEL 0.69, CADD 23.60, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- E88* (p.Glu88Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E88A (p.Glu88Ala), Ensembl rs1344927471
- E88Q (p.Glu88Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A91T (p.Ala91Thr), TOPMed rs1391023076, gnomAD rs1391023076, REVEL 0.84, CADD 23.80
- A91V (p.Ala91Val), rs2065384431, ClinGen CA409121445, ClinVar RCV001218957, Ensembl rs2065384431, REVEL 0.83, CADD 24.60, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- K92T (p.Lys92Thr), Ensembl rs2145319912
- E93* (p.Glu93Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E93D (p.Glu93Asp), gnomAD rs1160387427, REVEL 0.37, CADD 8.81
- E93K (p.Glu93Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E93Q (p.Glu93Gln), TOPMed rs2065384379, gnomAD rs2065384379, REVEL 0.44, CADD 18.30
- G94D (p.Gly94Asp), rs2065384316, ClinGen CA409121424, ClinVar RCV002785229, TOPMed rs2065384316, REVEL 0.70, CADD 22.10, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- V95M (p.Val95Met), rs145963969, ClinGen CA9871716, ClinVar RCV001245176, ESP rs145963969, REVEL 0.79, CADD 23.40, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- V96A (p.Val96Ala), ExAC rs777666040, TOPMed rs777666040, gnomAD rs777666040, REVEL 0.41, CADD 12.30, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- V96M (p.Val96Met), rs1316605272, ClinGen CA409121417, ClinVar RCV002043325, TOPMed rs1316605272, REVEL 0.61, CADD 23.20, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Y97C (p.Tyr97Cys), rs267606634, ClinVar RCV001796713, UniProt VAR 076954, ExAC rs267606634, REVEL 0.93, CADD 25.40, no classification for the single variant, in ADASCID
- Y97F (p.Tyr97Phe), ExAC rs267606634, TOPMed rs267606634, gnomAD rs267606634, Pathogenic, in ADASCID
- V98M (p.Val98Met), ExAC rs781241465, gnomAD rs781241465, REVEL 0.56, CADD 23.70
- E99D (p.Glu99Asp), TOPMed rs1437613842, gnomAD rs1437613842, REVEL 0.89, CADD 22.90
- V100L (p.Val100Leu), gnomAD rs1386689344, REVEL 0.36, CADD 21.10, Uncertain significance
- V100M (p.Val100Met), gnomAD rs1386689344, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- R101G (p.Arg101Gly), rs121908717, ClinGen CA409121387, ClinVar RCV001246793, TOPMed rs121908717, REVEL 0.90, CADD 24.70, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- R101L (p.Arg101Leu), rs121908714, ClinGen CA266003, ClinVar RCV000059098, ClinVar RCV006456669, REVEL 0.95, CADD 24.70, Pathogenic/Likely pathogenic, Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- R101P (p.Arg101Pro), ExAC rs121908714, TOPMed rs121908714, gnomAD rs121908714, REVEL 0.97, CADD 25.00, Pathogenic, in ADASCID
- R101Q (p.Arg101Gln), rs121908714, ClinGen CA251998, cosmic curated COSV65740, ClinVar RCV000002033, REVEL 0.95, CADD 24.90, Pathogenic, not provided; Severe combined immunodeficiency disease; Severe combined immunode
- R101W (p.Arg101Trp), rs121908717, cosmic curated COSV10971, UniProt VAR 002217, TOPMed rs121908717, REVEL 0.94, CADD 26.20, Pathogenic/Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Y102* (p.Tyr102Ter), rs149520391, ClinGen CA409121379, ClinVar RCV001902993, 1000Genomes rs149520391, Pathogenic
- Y102H (p.Tyr102His), TOPMed rs1359688726, gnomAD rs1359688726, REVEL 0.93, CADD 25.20
- P104L (p.Pro104Leu), rs1452483770, ClinGen CA409121365, ClinVar RCV000685056, ClinVar RCV003155284, REVEL 0.95, CADD 25.60, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- P104R (p.Pro104Arg), TOPMed rs1452483770, gnomAD rs1452483770, Pathogenic
- H105R (p.His105Arg), Ensembl rs2145319766
- H105Y (p.His105Tyr), 1000Genomes rs201522960, ExAC rs201522960, TOPMed rs201522960, gnomAD rs201522960, REVEL 0.73, CADD 25.00, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- H105D (p.His105Asp), rs768596356, []
- L106V (p.Leu106Val), rs267606635, UniProt VAR 076955, Ensembl rs267606635, Likely pathogenic, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- L107P (p.Leu107Pro), rs121908739, ClinGen CA252006, ClinVar RCV000002042, ClinVar RCV000255602, REVEL 0.92, CADD 26.90, Pathogenic/Likely pathogenic, not provided; Severe combined immunodeficiency disease; Severe combined immunode
- A108D (p.Ala108Asp), gnomAD rs62207808, REVEL 0.86, CADD 26.40
- N109D (p.Asn109Asp), TOPMed rs1163585601, gnomAD rs1163585601, REVEL 0.56, CADD 23.60
- N109K (p.Asn109Lys), gnomAD rs1483743360, REVEL 0.56, CADD 22.50
- N109S (p.Asn109Ser), ExAC rs764409246, gnomAD rs764409246, REVEL 0.38, CADD 19.00
- K111E (p.Lys111Glu), ExAC rs543345924, TOPMed rs543345924, gnomAD rs543345924, REVEL 0.42, CADD 18.30, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- K111N (p.Lys111Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V112A (p.Val112Ala), TOPMed rs998826246
- V112L (p.Val112Leu), rs1427855345, NCI-TCGA Cosmic COSV6574, cosmic curated COSV65740, TOPMed rs1427855345, REVEL 0.58, CADD 22.20, Variant assessed as somatic; moderate impact.
- E113* (p.Glu113Ter), rs1275500780, ClinGen CA409121317, ClinVar RCV001946542, TOPMed rs1275500780, Pathogenic
- E113K (p.Glu113Lys), TOPMed rs1275500780, gnomAD rs1275500780, REVEL 0.28, CADD 13.40, Pathogenic
- E113Q (p.Glu113Gln), TOPMed rs1275500780, gnomAD rs1275500780, REVEL 0.26, CADD 15.60, Pathogenic
- P114Q (p.Pro114Gln), ESP rs374166838, ExAC rs374166838, TOPMed rs374166838, gnomAD rs374166838, REVEL 0.77, CADD 27.50
- P116A (p.Pro116Ala), ExAC rs759962237, gnomAD rs759962237
- P116H (p.Pro116His), rs774510141, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10086, NCI-TCGA Cosmic COSV6573, REVEL 0.72, CADD 25.50, Variant assessed as somatic; moderate impact.
- P116L (p.Pro116Leu), NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6573, cosmic curated COSV65739, ExAC rs774510141, REVEL 0.71, CADD 25.30, Variant assessed as somatic; moderate impact.
- P116S (p.Pro116Ser), cosmic curated COSV10530, ExAC rs759962237, gnomAD rs759962237, REVEL 0.65, CADD 22.40
- W117* (p.Trp117Ter), rs749484894, ClinGen CA9871701, ClinVar RCV000670433, ExAC rs749484894, CADD 42.00, Pathogenic
- W117R (p.Trp117Arg), ExAC rs771162170, TOPMed rs771162170, gnomAD rs771162170, REVEL 0.81, CADD 24.00, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- N118T (p.Asn118Thr), gnomAD rs1304346114, REVEL 0.39, CADD 22.00
- Q119* (p.Gln119Ter), ExAC rs773612521, gnomAD rs773612521, Uncertain significance
- Q119K (p.Gln119Lys), ExAC rs773612521, gnomAD rs773612521, REVEL 0.67, CADD 22.50, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Q119R (p.Gln119Arg), TOPMed rs2065382943, REVEL 0.74, CADD 22.70
- A120T (p.Ala120Thr), Ensembl rs2145319638
- E121D (p.Glu121Asp), TOPMed rs2065375979
- E121G (p.Glu121Gly), ExAC rs748035221, gnomAD rs748035221, REVEL 0.52, CADD 22.80
- E121V (p.Glu121Val), rs748035221, NCI-TCGA Cosmic COSV6574, cosmic curated COSV65740, ExAC rs748035221, REVEL 0.64, CADD 24.00, Uncertain significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- G122A (p.Gly122Ala), cosmic curated COSV10530, TOPMed rs2065375912, gnomAD rs2065375912, REVEL 0.80, CADD 25.30
- G122R (p.Gly122Arg), ExAC rs767782363, TOPMed rs767782363, gnomAD rs767782363, REVEL 0.80, CADD 32.00
Public ADA analysis runs
- ADA analysis run — ADA (700 variants) — completed 2026-08-19