ITK (Tyrosine-protein kinase ITK/TSK) variants and mutations
ITK (also known as Tyrosine-protein kinase ITK/TSK) is a human protein-coding gene encoding a tyrosine-protein kinase ITK/TSK protein. A Tec-family kinase that relays T-cell receptor signals needed for T-cell development and activation. Deficiency can cause combined immunodeficiency. This analysis covers 801 ITK variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes lymphoproliferative syndrome 1, autosomal recessive lymphoproliferative disease, and renal cell carcinoma. Example ITK variants include N2S, N2N, and N3D.
Variant analysis overview
- Gene: ITK
- Protein: Tyrosine-protein kinase ITK/TSK
- UniProt accession: Q08881
- Organism: Homo sapiens
- Variants analyzed: 801
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 732 unspecified-consequence records; 70 synonymous variants; 74 missense variants; 5 stop-gained variants; 2 splice-region variants; 7 frameshift variants; 2 in-frame deletions; 1 substitution
- Prediction scores: 737 variants have prediction scores (92% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: lymphoproliferative syndrome 1, autosomal recessive lymphoproliferative disease, renal cell carcinoma, alopecia areata, sarcoma, Hodgkins lymphoma, hypothyroidism, combined immunodeficiency, severe combined immunodeficiency, soft tissue sarcoma, neoplasm, hereditary disease.
Protein structure and variant hotspots
- Protein features: 4 domains; 6 binding sites; 3 post-translational modification sites.
- Structural context: 646 variants have structural context.
- PTM context: 3 variants overlap post-translational modification sites.
- Experimental data: 59 protein positions have experimental scores. Source: ITK SH3 domain domainome 1.0.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to ITK
Notable ITK variants
Examples include N2S, N2N, N3D, N3S, N3N, F4L, F4F, I5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- N2S (p.Asn2Ser), gnomAD rs1378999585, REVEL 0.26, ESM-1b 0.00
- N2N (p.Asn2Asn), rs764145653, gnomAD 5-157180983-C-T, CADD 11.20
- N3D (p.Asn3Asp), ExAC rs776585958, TOPMed rs776585958, gnomAD rs776585958, REVEL 0.27, ESM-1b 0.00
- N3S (p.Asn3Ser), gnomAD rs1287758453, REVEL 0.26, ESM-1b 0.00
- N3N (p.Asn3Asn), rs761547914, gnomAD 5-157180986-C-T, CADD 10.60
- F4L (p.Phe4Leu), rs1393178996, ClinGen CA361966120, ClinVar RCV001905858, gnomAD rs1393178996, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- F4F (p.Phe4Phe), rs765056835, gnomAD 5-157180989-T-C, CADD 9.82
- I5T (p.Ile5Thr), gnomAD rs1325310385, REVEL 0.34, ESM-1b 0.00
- I5I (p.Ile5Ile), rs750096142, gnomAD 5-157180992-C-T, CADD 12.10
- L6V (p.Leu6Val), gnomAD 5-157180993-C-G, REVEL 0.44, ESM-1b 0.00
- E8K (p.Glu8Lys), rs868709834, NCI-TCGA Cosmic COSV1014, gnomAD rs868709834, REVEL 0.57, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- E8G (p.Glu8Gly), gnomAD 5-157181000-A-G, REVEL 0.84, ESM-1b 1.00
- E8E (p.Glu8Glu), rs2113732596, gnomAD 5-157181001-A-G, CADD 13.10
- E9G (p.Glu9Gly), rs2113732600, ClinGen CA361966159, ClinVar RCV001901374, Ensembl rs2113732600, ESM-1b 0.25, AlphaMissense 0.20, Uncertain significance, Lymphoproliferative syndrome 1
- E9E (p.Glu9Glu), rs779466042, gnomAD 5-157181004-A-G, CADD 11.90
- Q10E (p.Gln10Glu), ExAC rs758061743, TOPMed rs758061743, gnomAD rs758061743, REVEL 0.17, ESM-1b 0.00
- Q10* (p.Gln10Ter), gnomAD 5-157181005-C-T, CADD 35.00
- Q10P (p.Gln10Pro), gnomAD 5-157181006-A-C, REVEL 0.40, ESM-1b 0.00
- Q10Q (p.Gln10Gln), gnomAD 5-157181007-G-A, CADD 8.92
- L11L (p.Leu11Leu), rs765948222, gnomAD 5-157181010-C-A, CADD 8.01
- I12M (p.Ile12Met), rs751083005, ExAC rs751083005, gnomAD rs751083005, REVEL 0.74, ESM-1b 0.56, Variant assessed as somatic; moderate impact.
- I12L (p.Ile12Leu), gnomAD 5-157181011-A-C, REVEL 0.44, ESM-1b 0.12
- K13R (p.Lys13Arg), TOPMed rs1753501943, REVEL 0.91, ESM-1b 1.00
- S15S (p.Ser15Ser), rs754433426, gnomAD 5-157181022-C-G, CADD 11.30
- Q16K (p.Gln16Lys), Ensembl rs1202193739, ESM-1b 1.00, AlphaMissense 0.95
- Q17* (p.Gln17Ter), rs781686293, ClinGen CA3532612, ClinVar RCV001951266, ExAC rs781686293, CADD 36.00, Pathogenic
- Q17K (p.Gln17Lys), rs781686293, ClinGen CA361966287, ClinVar RCV003626939, ESM-1b 1.00, AlphaMissense 0.93, Uncertain significance, Lymphoproliferative syndrome 1
- Q17Q (p.Gln17Gln), rs1358030785, gnomAD 5-157181028-A-G, CADD 9.18, MutPred 0.53
- K18N (p.Lys18Asn), gnomAD 5-157181031-G-T, REVEL 0.80, ESM-1b 1.00
- R19K (p.Arg19Lys), rs1753502279, UniProt VAR 041710, TOPMed rs1753502279, gnomAD rs1753502279, REVEL 0.44, ESM-1b 0.00, Uncertain significance, in a metastatic melanoma sample
- T21G (p.Thr21Gly), NCI-TCGA Cosmic COSV7006, Variant assessed as somatic; moderate impact.
- S22P (p.Ser22Pro), gnomAD 5-157181041-T-C, REVEL 0.90, ESM-1b 1.00
- P23L (p.Pro23Leu), UniProt VAR 041711, REVEL 0.77, ESM-1b 0.86, Uncertain significance, in a metastatic melanoma sample
- P23R (p.Pro23Arg), gnomAD 5-157181045-C-G, REVEL 0.78, ESM-1b 0.76
- S24L (p.Ser24Leu), Ensembl rs1753502417, REVEL 0.35, ESM-1b 0.00
- S24T (p.Ser24Thr), Ensembl rs111423533, ESM-1b 0.00, AlphaMissense 0.14
- S24S (p.Ser24Ser), rs909127502, gnomAD 5-157181049-G-A, CADD 2.31
- K27E (p.Lys27Glu), TOPMed rs1753502606, ESM-1b 1.00, AlphaMissense 0.99
- K27R (p.Lys27Arg), gnomAD 5-157181057-A-G, REVEL 0.84, ESM-1b 1.00
- V28F (p.Val28Phe), rs1580869283, ClinGen CA361966473, ClinVar RCV000791571, TOPMed rs1580869283, REVEL 0.70, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- V28V (p.Val28Val), gnomAD 5-157181061-C-T, CADD 9.21, MutPred 0.72
- R29C (p.Arg29Cys), rs201513154, ClinGen CA130151086, NCI-TCGA Cosmic COSV7006, ClinVar RCV003118029, REVEL 0.93, ESM-1b 1.00, Uncertain significance, Lymphoproliferative syndrome 1
- R29H (p.Arg29His), rs397514261, ClinGen CA144697, NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7006, REVEL 0.95, ESM-1b 1.00, Likely pathogenic, ITK-related disorder; Lymphoproliferative syndrome 1
- R29S (p.Arg29Ser), 1000Genomes rs201513154, TOPMed rs201513154, gnomAD rs201513154, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance
- R29R (p.Arg29Arg), rs146496148, gnomAD 5-157181064-C-A, CADD 8.02
- F30C (p.Phe30Cys), TOPMed rs1753503176, REVEL 0.75, ESM-1b 0.00
- F30L (p.Phe30Leu), rs756484580, NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7006, ExAC rs756484580, REVEL 0.54, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- F30S (p.Phe30Ser), gnomAD 5-157181066-T-C, REVEL 0.77, ESM-1b 0.00
- F31L (p.Phe31Leu), rs1753503357, ClinGen CA361966518, ClinVar RCV001346786, Ensembl rs1753503357, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Lymphoproliferative syndrome 1
- F31I (p.Phe31Ile), gnomAD 5-157181068-T-A, REVEL 0.95, ESM-1b 1.00
- V32A (p.Val32Ala), TOPMed rs1753503543, ESM-1b 0.55, AlphaMissense 0.44
- V32M (p.Val32Met), gnomAD rs1179937592, REVEL 0.70, ESM-1b 0.79
- L33L (p.Leu33Leu), gnomAD 5-157181076-A-G, CADD 10.90
- T34A (p.Thr34Ala), gnomAD 5-157181077-A-G, REVEL 0.64, ESM-1b 1.00
- T34T (p.Thr34Thr), gnomAD 5-157181079-C-A, CADD 11.90
- A36G (p.Ala36Gly), gnomAD rs1753503783, REVEL 0.26, ESM-1b 0.00
- A36T (p.Ala36Thr), ExAC rs778189459, gnomAD rs778189459, REVEL 0.15, ESM-1b 0.00
- S37R (p.Ser37Arg), TOPMed rs1753503856, ESM-1b 0.53, AlphaMissense 0.21
- L38L (p.Leu38Leu), rs1753503934, gnomAD 5-157181089-C-T, CADD 10.50
- A39S (p.Ala39Ser), ESP rs140064341, ExAC rs140064341, TOPMed rs140064341, gnomAD rs140064341, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- A39V (p.Ala39Val), TOPMed rs1753504319, ESM-1b 0.00, AlphaMissense 0.20
- A39C (p.Ala39Cys), NCI-TCGA Cosmic COSV7006, Variant assessed as somatic; moderate impact.
- A39T (p.Ala39Thr), rs140064341, gnomAD 5-157181092-G-A, REVEL 0.24, ESM-1b 0.00
- A39G (p.Ala39Gly), gnomAD 5-157181093-C-G, REVEL 0.41, ESM-1b 0.00
- A39E (p.Ala39Glu), gnomAD 5-157181093-C-A, REVEL 0.53, ESM-1b 0.97
- A39A (p.Ala39Ala), gnomAD 5-157181094-A-T, CADD 2.63
- Y40N (p.Tyr40Asn), gnomAD 5-157181095-T-A, REVEL 0.94, ESM-1b 1.00
- Y40Y (p.Tyr40Tyr), gnomAD 5-157181097-C-T, CADD 8.03
- F41L (p.Phe41Leu), gnomAD 5-157181100-T-G, REVEL 0.59, ESM-1b 1.00
- E42G (p.Glu42Gly), gnomAD 5-157181102-A-G, REVEL 0.92, ESM-1b 1.00
- D43N (p.Asp43Asn), gnomAD 5-157181104-G-A, REVEL 0.08, ESM-1b 0.00
- R44C (p.Arg44Cys), ExAC rs774659403, gnomAD rs774659403, REVEL 0.76, ESM-1b 0.78, Uncertain significance, Lymphoproliferative syndrome 1
- R44G (p.Arg44Gly), rs774659403, NCI-TCGA Cosmic COSV7006, ExAC rs774659403, gnomAD rs774659403, REVEL 0.50, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R44H (p.Arg44His), rs201892355, ClinGen CA3532620, ClinVar RCV002015941, 1000Genomes rs201892355, REVEL 0.65, ESM-1b 0.00, Uncertain significance, not provided; Lymphoproliferative syndrome 1
- H45L (p.His45Leu), rs1753504528, ClinGen CA361966742, ClinVar RCV001050342, Ensembl rs1753504528, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- H45P (p.His45Pro), gnomAD 5-157181111-A-C, REVEL 0.12, ESM-1b 0.00
- G46T (p.Gly46Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G46E (p.Gly46Glu), gnomAD rs1164561019, REVEL 0.62, ESM-1b 0.51, Uncertain significance, Inborn genetic diseases
- G46V (p.Gly46Val), gnomAD rs1164561019, REVEL 0.77, ESM-1b 1.00, Uncertain significance
- K47N (p.Lys47Asn), rs772972728, ExAC rs772972728, TOPMed rs772972728, gnomAD rs772972728, REVEL 0.50, ESM-1b 0.27, Uncertain significance, Lymphoproliferative syndrome 1
- K47R (p.Lys47Arg), Ensembl rs1754130830, REVEL 0.50, ESM-1b 0.00
- K47E (p.Lys47Glu), gnomAD 5-157208889-A-G, REVEL 0.69, ESM-1b 0.54
- K47K (p.Lys47Lys), gnomAD 5-157208891-G-A, CADD 12.00
- K48R (p.Lys48Arg), TOPMed rs1754130969, ESM-1b 0.00, AlphaMissense 0.08
- K48Q (p.Lys48Gln), gnomAD 5-157208892-A-C, REVEL 0.75, ESM-1b 0.34
- K48T (p.Lys48Thr), gnomAD 5-157208893-A-C, REVEL 0.74, ESM-1b 1.00
- R49C (p.Arg49Cys), rs376961787, ESP rs376961787, TOPMed rs376961787, REVEL 0.68, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R49H (p.Arg49His), rs762768477, ClinGen CA3532644, ClinVar RCV001155096, ExAC rs762768477, REVEL 0.47, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- R49S (p.Arg49Ser), gnomAD 5-157208895-C-A, REVEL 0.41, ESM-1b 0.00
- R49R (p.Arg49Arg), rs770680687, gnomAD 5-157208897-C-G, CADD 7.24
- T50M (p.Thr50Met), rs774040719, ClinGen CA3532646, ClinVar RCV001068223, ClinVar RCV005582528, REVEL 0.25, ESM-1b 0.81, Uncertain significance, Lymphoproliferative syndrome 1; Inborn genetic diseases
- T50R (p.Thr50Arg), ExAC rs774040719, TOPMed rs774040719, gnomAD rs774040719, REVEL 0.36, ESM-1b 0.00, Uncertain significance
- T50T (p.Thr50Thr), rs61743239, gnomAD 5-157208900-G-A, CADD 0.40
- L51P (p.Leu51Pro), TOPMed rs1297430246, ESM-1b 0.00, AlphaMissense 0.25
- L51L (p.Leu51Leu), gnomAD 5-157208903-G-T, CADD 9.32
- K52* (p.Lys52Ter), Ensembl rs1754131545
- K52R (p.Lys52Arg), gnomAD 5-157208905-A-G, REVEL 0.38, ESM-1b 0.79
- K52K (p.Lys52Lys), rs1258351156, gnomAD 5-157208906-G-A, CADD 8.40
- G53A (p.Gly53Ala), Ensembl rs1561652560, ESM-1b 1.00, AlphaMissense 0.92
- G53T (p.Gly53Thr), NCI-TCGA Cosmic COSV7006, Variant assessed as somatic; moderate impact.
- G53G (p.Gly53Gly), rs1419185852, gnomAD 5-157208909-G-A, CADD 7.20
- S54T (p.Ser54Thr), rs752258747, ClinGen CA3532649, ClinVar RCV002741560, ExAC rs752258747, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- I55T (p.Ile55Thr), rs200593448, ClinGen CA3532651, ClinVar RCV001221645, ExAC rs200593448, REVEL 0.95, ESM-1b 1.00, Uncertain significance, Lymphoproliferative syndrome 1
- I55V (p.Ile55Val), ExAC rs760049982, TOPMed rs760049982, gnomAD rs760049982, REVEL 0.49, ESM-1b 0.00
- I55I (p.Ile55Ile), rs1489407579, gnomAD 5-157208915-T-C, CADD 4.49
- E56K (p.Glu56Lys), TOPMed rs1754132038, ESM-1b 1.00, AlphaMissense 0.24
- E56V (p.Glu56Val), ExAC rs754361306, gnomAD rs754361306, REVEL 0.73, ESM-1b 1.00
- L57L (p.Leu57Leu), rs1261260872, gnomAD 5-157208921-C-T, CADD 5.09
- S58F (p.Ser58Phe), gnomAD 5-157208923-C-T, REVEL 0.77, ESM-1b 1.00
- R59* (p.Arg59Ter), TOPMed rs946804846, gnomAD rs946804846, CADD 36.00
- R59Q (p.Arg59Gln), rs757740059, ClinGen CA3532653, NCI-TCGA Cosmic COSV7006, ClinVar RCV001368433, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- R59R (p.Arg59Arg), rs779404309, gnomAD 5-157208927-A-C, CADD 9.14
- I60V (p.Ile60Val), TOPMed rs1432709261, gnomAD rs1432709261, REVEL 0.40, ESM-1b 0.39
- K61E (p.Lys61Glu), ExAC rs750736839, TOPMed rs750736839, gnomAD rs750736839, ESM-1b 1.00, AlphaMissense 0.71
- C62T (p.Cys62Thr), NCI-TCGA Cosmic COSV7006, Variant assessed as somatic; moderate impact.
- C62G (p.Cys62Gly), TOPMed rs1216454556, ESM-1b 1.00, AlphaMissense 0.55
- C62A (p.Cys62Ala), NCI-TCGA Cosmic COSV1014, Variant assessed as somatic; moderate impact.
- C62R (p.Cys62Arg), gnomAD 5-157208934-T-C, REVEL 0.90, ESM-1b 1.00
- V63I (p.Val63Ile), gnomAD 5-157208937-G-A, REVEL 0.64, ESM-1b 0.00
- V63G (p.Val63Gly), gnomAD 5-157208938-T-G, REVEL 0.95, ESM-1b 1.00
- V63V (p.Val63Val), gnomAD 5-157208939-T-G, CADD 1.65
- E64V (p.Glu64Val), gnomAD rs1360874103, REVEL 0.91, ESM-1b 1.00
- E64E (p.Glu64Glu), gnomAD 5-157208942-G-A, CADD 9.27
- I65F (p.Ile65Phe), rs758696074, ExAC rs758696074, gnomAD rs758696074, REVEL 0.73, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- I65T (p.Ile65Thr), rs1286793954, ClinGen CA361947733, ClinVar RCV001351801, gnomAD rs1286793954, REVEL 0.69, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- V66V (p.Val66Val), rs1487057304, gnomAD 5-157208948-G-A, CADD 9.97
- K67E (p.Lys67Glu), gnomAD 5-157208949-A-G, REVEL 0.16, ESM-1b 0.00
- S68S (p.Ser68Ser), rs1280125785, gnomAD 5-157208954-T-C, CADD 9.73
- D69N (p.Asp69Asn), gnomAD 5-157208955-G-A, REVEL 0.58, ESM-1b 0.76
- I70T (p.Ile70Thr), gnomAD rs1360825341, REVEL 0.26, ESM-1b 0.00
- I70M (p.Ile70Met), rs1200720668, gnomAD 5-157208956-ACATC, CADD 27.70
- I70V (p.Ile70Val), gnomAD 5-157208958-A-G, REVEL 0.12, ESM-1b 0.00
- I70I (p.Ile70Ile), rs752571215, gnomAD 5-157208960-C-T, CADD 7.77
- S71N (p.Ser71Asn), rs1386860362, ClinGen CA361947956, ClinVar RCV001306117, TOPMed rs1386860362, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- S71T (p.Ser71Thr), rs1386860362, ClinGen CA361947961, ClinVar RCV001212205, TOPMed rs1386860362, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- S71G (p.Ser71Gly), gnomAD 5-157208961-A-G, REVEL 0.11, ESM-1b 0.00
- S71S (p.Ser71Ser), gnomAD 5-157208963-C-T, CADD 9.53
- I72V (p.Ile72Val), gnomAD rs1302681288, ESM-1b 0.00, AlphaMissense 0.13
- I72M (p.Ile72Met), gnomAD 5-157208966-C-G, REVEL 0.48, ESM-1b 0.08
- P73L (p.Pro73Leu), ExAC rs780078290, gnomAD rs780078290, REVEL 0.67, ESM-1b 1.00
- P73Q (p.Pro73Gln), ExAC rs780078290, gnomAD rs780078290, REVEL 0.65, ESM-1b 1.00
- P73T (p.Pro73Thr), TOPMed rs1272674224, gnomAD rs1272674224, REVEL 0.52, ESM-1b 1.00
- P73P (p.Pro73Pro), rs768575926, gnomAD 5-157208969-A-G, CADD 6.36
- C74F (p.Cys74Phe), Ensembl rs2113752405, ESM-1b 1.00, AlphaMissense 0.92
- C74A (p.Cys74Ala), NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7006, Variant assessed as somatic; moderate impact.
- C74* (p.Cys74Ter), gnomAD 5-157208972-C-A, CADD 36.00
- Y76* (p.Tyr76Ter), rs140451238, ClinGen CA361948081, ClinVar RCV002816276, Pathogenic
- Y76H (p.Tyr76His), ExAC rs777806304, gnomAD rs777806304, REVEL 0.42, ESM-1b 0.00, Uncertain significance, Lymphoproliferative syndrome 1
- Y76Y (p.Tyr76Tyr), rs140451238, gnomAD 5-157208978-T-C, CADD 6.59
- K77I (p.Lys77Ile), gnomAD 5-157208980-A-T, REVEL 0.76, ESM-1b 1.00
- Y78H (p.Tyr78His), gnomAD 5-157208982-T-C, REVEL 0.80, ESM-1b 1.00
- Y78* (p.Tyr78Ter), gnomAD 5-157208984-C-A, CADD 35.00
- P79L (p.Pro79Leu), ExAC rs770772353, TOPMed rs770772353, gnomAD rs770772353, REVEL 0.59, ESM-1b 1.00
- P79A (p.Pro79Ala), gnomAD 5-157208985-C-G, REVEL 0.51, ESM-1b 1.00
- P79Q (p.Pro79Gln), gnomAD 5-157208986-C-A, REVEL 0.67, ESM-1b 1.00
- P79P (p.Pro79Pro), rs201403794, gnomAD 5-157208987-G-A, CADD 0.71
- F80V (p.Phe80Val), gnomAD 5-157208983-A-AC, CADD 29.20
- Q81H (p.Gln81His), gnomAD 5-157208993-G-C, REVEL 0.75, ESM-1b 1.00
- V82V (p.Val82Val), rs1279359750, gnomAD 5-157211289-G-T, CADD 0.99
- V83G (p.Val83Gly), Ensembl rs10039644, ESM-1b 1.00, AlphaMissense 0.32
- p.Val83 His84delinsAsp, gnomAD 5-157211290-GTGC-, CADD 16.20
- V83V (p.Val83Val), gnomAD 5-157211292-G-C, CADD 4.02
- H84Y (p.His84Tyr), gnomAD 5-157211293-C-T, REVEL 0.36, ESM-1b 0.00
- H84Q (p.His84Gln), gnomAD 5-157211294-AT-A, CADD 21.60
- D85E (p.Asp85Glu), ExAC rs761346212, TOPMed rs761346212, gnomAD rs761346212, ESM-1b 0.00, AlphaMissense 0.28
- D85D (p.Asp85Asp), rs761346212, gnomAD 5-157211298-C-T, CADD 9.71
- N86T (p.Asn86Thr), gnomAD 5-157211298-CA-C, CADD 26.50
- Y87C (p.Tyr87Cys), TOPMed rs1580887018, ESM-1b 0.00, AlphaMissense 0.14
- Y87N (p.Tyr87Asn), Ensembl rs1580887015, ESM-1b 0.00, AlphaMissense 0.31
- Y87Y (p.Tyr87Tyr), rs1291733060, gnomAD 5-157211304-C-T, CADD 6.73
- L88H (p.Leu88His), gnomAD rs1334373357, REVEL 0.47, ESM-1b 0.35
- L88F (p.Leu88Phe), gnomAD 5-157211305-C-T, REVEL 0.12, ESM-1b 1.00
- L88I (p.Leu88Ile), gnomAD 5-157211305-C-A, REVEL 0.15, ESM-1b 0.00
- L88L (p.Leu88Leu), gnomAD 5-157211307-C-G, CADD 4.46
- L89L (p.Leu89Leu), rs1219334154, gnomAD 5-157211308-C-T, CADD 9.62
- Y90H (p.Tyr90His), gnomAD 5-157211311-T-C, REVEL 0.95, ESM-1b 1.00
- Y90S (p.Tyr90Ser), gnomAD 5-157211312-A-C, REVEL 0.97, ESM-1b 1.00
- Y90Y (p.Tyr90Tyr), gnomAD 5-157211313-T-C, CADD 3.92
- V91V (p.Val91Val), rs773814778, gnomAD 5-157211316-G-A, CADD 7.67
- F92Y (p.Phe92Tyr), gnomAD 5-157211318-T-A, REVEL 0.52, ESM-1b 1.00
Public ITK analysis runs
- ITK analysis run — ITK (801 variants) — completed 2026-10-09