MTOR (P42345) variants and mutations
MTOR (also known as P42345) is a human protein-coding gene encoding a serine/threonine-protein kinase protein. It integrates nutrient, energy, oxygen, and growth-factor signals to control protein synthesis, autophagy, metabolism, and cell growth. Activating germline or mosaic variants can cause developmental brain overgrowth and epilepsy, while persistent pathway activation is common in cancer. This analysis covers 5,679 MTOR variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy, isolated focal cortical dysplasia type II, and overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. Example MTOR variants include L2V, G3E, and G3R.
Variant analysis overview
- Gene: MTOR
- Protein: P42345
- UniProt accession: P42345
- Organism: Homo sapiens
- Variants analyzed: 5679
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 5,547 unspecified-consequence records; 41 missense variants; 78 synonymous variants; 1 stop-gained variants; 4 splice-region variants; 1 in-frame deletions; 1 in-frame insertions; 6 substitution
- Prediction scores: 3,152 variants have prediction scores (56% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy, isolated focal cortical dysplasia type II, overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p, neurodegenerative disease, clear cell renal carcinoma, CEBALID syndrome, Intellectual disability, hereditary disease, Alzheimer disease, Parkinson disease, lysosomal storage disease, multiple sclerosis.
Protein structure and variant hotspots
- Protein features: 3 domains; 17 binding sites; 12 post-translational modification sites.
- Structural context: 2,432 variants have structural context.
- PTM context: 23 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 MTOR variants
Examples include L2V, G3E, G3R, T4A, T4I, T4P, G5A, G5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- L2V (p.Leu2Val), gnomAD rs1471222130, REVEL 0.06, CADD 22.80, Uncertain significance, not specified
- G3E (p.Gly3Glu), Ensembl rs2100986761
- G3R (p.Gly3Arg), Ensembl rs2100986770, REVEL 0.11, CADD 23.00
- T4A (p.Thr4Ala), Ensembl rs1557501317
- T4I (p.Thr4Ile), Ensembl rs2100986741
- T4P (p.Thr4Pro), Ensembl rs1557501317
- G5A (p.Gly5Ala), Ensembl rs2100986711
- G5E (p.Gly5Glu), Ensembl rs2100986711
- G5R (p.Gly5Arg), rs774041749, ClinGen CA591049, ClinVar RCV002247218, ExAC rs774041749, REVEL 0.09, CADD 22.20, Uncertain significance, MTOR-related disorder
- P6L (p.Pro6Leu), Ensembl rs2100986687, REVEL 0.07, CADD 23.60
- P6R (p.Pro6Arg), rs2100986687, ClinGen CA338405516, ClinVar RCV003669540, MutPred 0.14, Uncertain significance, not provided
- P6S (p.Pro6Ser), rs2523476182, ClinGen CA338405519, ClinVar RCV003422578, Uncertain significance, not provided
- A7L (p.Ala7Leu), rs2523476122, ClinGen CA2697552197, ClinVar RCV003576263, Uncertain significance, not provided
- A7P (p.Ala7Pro), Ensembl rs2100986680, REVEL 0.11, CADD 21.50
- A7T (p.Ala7Thr), Ensembl rs2100986680
- A7V (p.Ala7Val), Ensembl rs2100986673, REVEL 0.09, CADD 23.50
- A8G (p.Ala8Gly), gnomAD rs1191287195
- A8P (p.Ala8Pro), ExAC rs748801456, TOPMed rs748801456, gnomAD rs748801456, Benign, in a lung large cell carcinoma sample
- A8S (p.Ala8Ser), rs748801456, NCI-TCGA Cosmic COSV6387, UniProt VAR 041537, ExAC rs748801456, MutPred 0.23, Benign, in a lung large cell carcinoma sample
- A8T (p.Ala8Thr), rs748801456, ClinGen CA591047, ClinVar RCV001519061, ExAC rs748801456, REVEL 0.03, CADD 22.40, Benign, not provided
- A8V (p.Ala8Val), gnomAD rs1191287195, REVEL 0.02, CADD 20.30
- A9P (p.Ala9Pro), ExAC rs769877976, gnomAD rs769877976, Benign
- A9T (p.Ala9Thr), rs769877976, ClinGen CA591045, NCI-TCGA Cosmic COSV6387, ClinVar RCV002115559, REVEL 0.15, CADD 24.70, Benign, not provided
- A9V (p.Ala9Val), Ensembl rs2100986615, MetaLR 0.03, MetaSVM -1.07
- T10A (p.Thr10Ala), rs368184120, ClinGen CA591044, ClinVar RCV003712432, ESP rs368184120, REVEL 0.06, CADD 17.70, Uncertain significance, not provided
- T10I (p.Thr10Ile), Ensembl rs2100986588, REVEL 0.04, CADD 23.20
- T11I (p.Thr11Ile), gnomAD rs1462557389, REVEL 0.09, CADD 19.10
- A12T (p.Ala12Thr), rs527289325, ClinGen CA591041, NCI-TCGA Cosmic COSV6388, ClinVar RCV001203103, REVEL 0.01, CADD 12.00, Uncertain significance, not provided
- A12V (p.Ala12Val), rs1339465839, ClinGen CA338405463, ClinVar RCV002913816, gnomAD rs1339465839, REVEL 0.04, CADD 21.80, Benign, not provided
- A13P (p.Ala13Pro), Ensembl rs2100986541
- A13T (p.Ala13Thr), Ensembl rs2100986541
- A13V (p.Ala13Val), rs1271626033, ClinGen CA338405455, ClinVar RCV001304643, gnomAD rs1271626033, REVEL 0.11, CADD 21.10, Uncertain significance, not provided
- T14A (p.Thr14Ala), rs200753449, ClinGen CA591039, ClinVar RCV002663608, ExAC rs200753449, REVEL 0.04, CADD 7.62, Uncertain significance, not provided
- T14I (p.Thr14Ile), ExAC rs752849789, TOPMed rs752849789, gnomAD rs752849789, MetaLR 0.01, MetaSVM -0.94
- T14N (p.Thr14Asn), ExAC rs752849789, TOPMed rs752849789, gnomAD rs752849789, REVEL 0.07, CADD 15.60
- T14S (p.Thr14Ser), ExAC rs752849789, TOPMed rs752849789, gnomAD rs752849789, REVEL 0.10, CADD 14.00, Uncertain significance, not provided
- T15A (p.Thr15Ala), rs2523475823, ClinGen CA338405445, ClinVar RCV002806343, REVEL 0.13, CADD 19.10, Uncertain significance, not provided
- T15K (p.Thr15Lys), rs2100986504, ClinGen CA2573130714, ClinVar RCV001945127, Ensembl rs2100986504, REVEL 0.13, CADD 21.10, Uncertain significance, not provided
- S16T (p.Ser16Thr), rs1650818986, ClinGen CA338405435, ClinVar RCV001342386, Ensembl rs1650818986, MutPred 0.09, Uncertain significance, not provided
- S17G (p.Ser17Gly), ExAC rs760048895, gnomAD rs760048895, REVEL 0.16, CADD 22.50
- S17I (p.Ser17Ile), 1000Genomes rs200587372, ExAC rs200587372, gnomAD rs200587372, MetaLR 0.04, MetaSVM -1.12, Uncertain significance
- S17N (p.Ser17Asn), rs200587372, ClinGen CA591035, ClinVar RCV001882218, 1000Genomes rs200587372, REVEL 0.15, CADD 22.30, Conflicting interpretations, not provided
- N18K (p.Asn18Lys), ExAC rs766795299, TOPMed rs766795299, gnomAD rs766795299, MetaLR 0.02, MetaSVM -0.98, Likely benign
- V19M (p.Val19Met), rs2100986456, ClinGen CA338405404, ClinVar RCV001912842, Ensembl rs2100986456, REVEL 0.07, CADD 22.30, Uncertain significance, not provided
- S20G (p.Ser20Gly), ESP rs143193947
- S20N (p.Ser20Asn), TOPMed rs1650817273
- S20T (p.Ser20Thr), rs1650817273, ClinGen CA338405391, ClinVar RCV003055677, MutPred 0.28, Uncertain significance, not provided
- V21F (p.Val21Phe), ESP rs149221273, ExAC rs149221273, TOPMed rs149221273, gnomAD rs149221273, Benign
- V21I (p.Val21Ile), rs149221273, ClinGen CA591033, ClinVar RCV001244697, ClinVar RCV003166535, REVEL 0.09, CADD 18.90, Benign/Likely benign, not provided; Inborn genetic diseases
- V21A (p.Val21Ala), rs971203972, []
- Q23* (p.Gln23Ter), NCI-TCGA Cosmic COSV1008, Ensembl rs2100986404, Variant assessed as somatic; high impact.
- Q24* (p.Gln24Ter), Ensembl rs2100986398
- A26V (p.Ala26Val), Ensembl rs2100986384, MetaLR 0.06, MetaSVM -0.87
- S27G (p.Ser27Gly), rs763838860, ClinGen CA338405341, ClinVar RCV001296150, ExAC rs763838860, REVEL 0.06, CADD 21.70, Uncertain significance, not provided
- S27I (p.Ser27Ile), Ensembl rs2100986365, MetaLR 0.16, MetaSVM -0.83
- S27R (p.Ser27Arg), ExAC rs763838860, gnomAD rs763838860, REVEL 0.09, CADD 21.80, Uncertain significance
- G28A (p.Gly28Ala), Ensembl rs1650814881, Uncertain significance
- G28C (p.Gly28Cys), Ensembl rs2100986360
- G28D (p.Gly28Asp), rs1650814881, ClinGen CA338405331, ClinVar RCV001763964, Ensembl rs1650814881, MutPred 0.20, Uncertain significance, not provided
- G28E (p.Gly28Glu), rs939741247, Uncertain significance
- K30N (p.Lys30Asn), NCI-TCGA Cosmic COSV6386, MetaLR 0.52, MetaSVM 0.25, Variant assessed as somatic; moderate impact.
- S31G (p.Ser31Gly), ExAC rs775157825, gnomAD rs775157825, REVEL 0.57, CADD 24.70
- S31I (p.Ser31Ile), Ensembl rs2100986326
- S31R (p.Ser31Arg), TOPMed rs1650813881
- R32G (p.Arg32Gly), TOPMed rs1446194159, gnomAD rs1446194159, Uncertain significance
- R32Q (p.Arg32Gln), rs2100986298, ClinGen CA338405306, ClinVar RCV002292061, Ensembl rs2100986298, MutPred 0.28, Uncertain significance, not provided
- R32W (p.Arg32Trp), rs1446194159, ClinGen CA338405307, ClinVar RCV002796388, TOPMed rs1446194159, REVEL 0.46, CADD 32.00, Uncertain significance, not provided
- N33I (p.Asn33Ile), rs1186730850, ClinGen CA338405298, ClinVar RCV002156018, TOPMed rs1186730850, REVEL 0.23, CADD 24.30, Benign, not provided
- N33S (p.Asn33Ser), TOPMed rs1186730850, gnomAD rs1186730850, MetaLR 0.12, MetaSVM -1.03, Benign
- E34D (p.Glu34Asp), rs769367158, ClinGen CA591028, ClinVar RCV001919655, ExAC rs769367158, REVEL 0.23, CADD 14.90, Uncertain significance, not provided
- E35K (p.Glu35Lys), Ensembl rs2100986267, REVEL 0.20, CADD 24.10
- T36N (p.Thr36Asn), TOPMed rs1274453053, gnomAD rs1274453053, MetaLR 0.23, MetaSVM -0.82
- T36S (p.Thr36Ser), TOPMed rs1274453053, gnomAD rs1274453053, REVEL 0.07, CADD 20.30
- A38D (p.Ala38Asp), TOPMed rs1341084454, gnomAD rs1341084454, MetaLR 0.14, MetaSVM -0.97
- A38S (p.Ala38Ser), ESP rs138117203, ExAC rs138117203, TOPMed rs138117203, gnomAD rs138117203, REVEL 0.10, CADD 20.70, Benign
- A38T (p.Ala38Thr), rs138117203, ClinGen CA591026, ClinVar RCV000808654, ClinVar RCV001255811, REVEL 0.15, CADD 22.00, Benign, not provided
- A38V (p.Ala38Val), TOPMed rs1341084454, gnomAD rs1341084454, REVEL 0.11, CADD 22.60
- K39R (p.Lys39Arg), ExAC rs746784076, gnomAD rs746784076, REVEL 0.16, CADD 22.40
- A40P (p.Ala40Pro), Ensembl rs2100986219, Likely benign
- A40S (p.Ala40Ser), Ensembl rs2100986219, Likely benign
- A40T (p.Ala40Thr), rs2100986219, ClinGen CA338405245, ClinVar RCV001438847, Ensembl rs2100986219, MutPred 0.52, Likely benign, not provided
- A40V (p.Ala40Val), rs1650810271, ClinGen CA338405239, ClinVar RCV001346072, Ensembl rs1650810271, MutPred 0.49, Uncertain significance, not provided
- A41S (p.Ala41Ser), rs758668050, NCI-TCGA Cosmic COSV6387, ExAC rs758668050, REVEL 0.35, CADD 23.90, Uncertain significance
- A41T (p.Ala41Thr), rs758668050, ClinGen CA338405233, ClinVar RCV001230840, ExAC rs758668050, REVEL 0.36, CADD 26.40, Uncertain significance, not provided
- E43* (p.Glu43Ter), NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; high impact.
- E43G (p.Glu43Gly), rs939741247, ClinGen CA17960660, ClinVar RCV001230880, TOPMed rs939741247, REVEL 0.29, CADD 25.40, Uncertain significance, not provided
- Q45R (p.Gln45Arg), rs2523475026, ClinGen CA338405183, ClinVar RCV003542914, REVEL 0.37, CADD 22.30, Uncertain significance, not provided
- H46Q (p.His46Gln), rs1326881059, ClinGen CA338405163, ClinVar RCV002609286, ClinVar RCV002634711, REVEL 0.24, CADD 22.70, Conflicting interpretations, not provided; Inborn genetic diseases
- H46R (p.His46Arg), rs2100986142, ClinGen CA338405169, ClinVar RCV001927208, Ensembl rs2100986142, MutPred 0.34, Benign, not provided
- Y47C (p.Tyr47Cys), rs146812066, ClinGen CA591020, ClinVar RCV000824542, ESP rs146812066, REVEL 0.68, CADD 29.00, Likely benign, not provided
- V48I (p.Val48Ile), Ensembl rs1650807519, REVEL 0.10, CADD 22.10
- V48L (p.Val48Leu), Ensembl rs1650807519
- T49A (p.Thr49Ala), TOPMed rs1650807221
- T49I (p.Thr49Ile), gnomAD rs1366469471, REVEL 0.41, CADD 23.00
- M50I (p.Met50Ile), rs755044119, ClinGen CA591019, ClinVar RCV001223971, ClinVar RCV005372600, REVEL 0.04, CADD 21.90, Benign/Likely benign, Inborn genetic diseases; not provided
- M50T (p.Met50Thr), TOPMed rs1650806357, gnomAD rs1650806357, REVEL 0.11, CADD 19.30
- M50V (p.Met50Val), gnomAD rs1165696382, REVEL 0.07, CADD 21.60
- L52P (p.Leu52Pro), TOPMed rs1184775466
- R53* (p.Arg53Ter), rs754392569, ClinGen CA338405088, ClinVar RCV001236424, ExAC rs754392569, CADD 36.00, Uncertain significance
- R53G (p.Arg53Gly), ExAC rs754392569, gnomAD rs754392569, REVEL 0.52, CADD 25.30, Uncertain significance
- R53L (p.Arg53Leu), Ensembl rs1650804526, REVEL 0.65, CADD 28.20, Uncertain significance
- R53Q (p.Arg53Gln), rs1650804526, ClinGen CA338405085, NCI-TCGA Cosmic COSV6387, ClinVar RCV001770586, REVEL 0.26, CADD 23.10, Uncertain significance, not provided
- M55V (p.Met55Val), ExAC rs779092282, gnomAD rs779092282, REVEL 0.05, CADD 19.60
- S56C (p.Ser56Cys), Ensembl rs2100984218
- S56N (p.Ser56Asn), Ensembl rs1255639333, REVEL 0.25, CADD 23.70
- S56R (p.Ser56Arg), 1000Genomes rs563387441, ExAC rs563387441, gnomAD rs563387441, REVEL 0.49, CADD 23.60
- Q57* (p.Gln57Ter), 1000Genomes rs541822280, ExAC rs541822280, gnomAD rs541822280, CADD 38.00
- E58K (p.Glu58Lys), TOPMed rs1212557139, gnomAD rs1212557139, REVEL 0.40, CADD 24.80
- E59K (p.Glu59Lys), rs1650724507, ClinGen CA338404961, ClinVar RCV001064959, Ensembl rs1650724507, REVEL 0.25, CADD 22.90, Benign, not provided
- T61A (p.Thr61Ala), rs756658424, ClinGen CA590999, ClinVar RCV001366880, ExAC rs756658424, REVEL 0.23, CADD 22.60, Uncertain significance, not provided
- T61I (p.Thr61Ile), Ensembl rs1650723489, MetaLR 0.21, MetaSVM -0.89
- T61S (p.Thr61Ser), ExAC rs756658424, gnomAD rs756658424, REVEL 0.13, CADD 22.30, Uncertain significance
- R62C (p.Arg62Cys), gnomAD rs1217005872, REVEL 0.11, CADD 25.20
- R62H (p.Arg62His), rs375240279, ClinGen CA17960157, ClinVar RCV002207299, gnomAD rs375240279, REVEL 0.17, CADD 21.80, Benign, not provided
- D65N (p.Asp65Asn), gnomAD rs1266839864, REVEL 0.22, CADD 23.70
- N68K (p.Asn68Lys), ExAC rs767996746, gnomAD rs767996746, NCI-TCGA Cosmic COSV6386, REVEL 0.25, CADD 25.60, Variant assessed as somatic; moderate impact.
- N68S (p.Asn68Ser), NCI-TCGA TCGA novel, REVEL 0.37, CADD 24.00, Variant assessed as somatic; moderate impact.
- H69Q (p.His69Gln), rs752443865, ClinGen CA590995, ClinVar RCV002029276, ExAC rs752443865, MutPred 0.30, Benign, not provided
- H70Q (p.His70Gln), gnomAD rs1285222493, REVEL 0.19, CADD 21.70
- I71V (p.Ile71Val), ExAC rs764948947, gnomAD rs764948947, REVEL 0.33, CADD 23.80
- F72L (p.Phe72Leu), TOPMed rs1050755471, MetaLR 0.44, MetaSVM 0.07
- E73Q (p.Glu73Gln), NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6386, MetaLR 0.19, MetaSVM -0.92, Variant assessed as somatic; moderate impact.
- L74S (p.Leu74Ser), rs2523469392, ClinVar RCV004595004, Uncertain significance, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- V75F (p.Val75Phe), ExAC rs759221567, gnomAD rs759221567, REVEL 0.56, CADD 27.30
- V75I (p.Val75Ile), rs978520468, []
- S77G (p.Ser77Gly), rs2100984049, ClinGen CA338404778, ClinVar RCV001767572, Ensembl rs2100984049, MutPred 0.24, Uncertain significance, not provided
- S77R (p.Ser77Arg), NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; moderate impact.
- S78P (p.Ser78Pro), rs1391848499, ClinGen CA338404770, ClinVar RCV001964358, TOPMed rs1391848499, REVEL 0.43, CADD 25.20, Uncertain significance, not provided
- D79H (p.Asp79His), Ensembl rs2100984013
- D79Y (p.Asp79Tyr), Ensembl rs2100984013
- A80V (p.Ala80Val), rs2523469182, ClinGen CA338404752, ClinVar RCV003972034, REVEL 0.12, CADD 21.90, Uncertain significance, MTOR-related disorder
- N81H (p.Asn81His), ExAC rs765748677, gnomAD rs765748677, REVEL 0.09, CADD 22.50
- N81S (p.Asn81Ser), rs997811327, ClinGen CA17960113, ClinVar RCV003557890, TOPMed rs997811327, REVEL 0.22, CADD 23.00, Uncertain significance, not provided
- E82K (p.Glu82Lys), TOPMed rs1650717463
- G85D (p.Gly85Asp), rs2523469033, ClinGen CA338404719, ClinVar RCV002824043, Uncertain significance, not provided
- G85S (p.Gly85Ser), NCI-TCGA TCGA novel, Ensembl rs2100983984, Variant assessed as somatic; moderate impact.
- I87T (p.Ile87Thr), Ensembl rs2100983945, MetaLR 0.35, MetaSVM -0.14
- I87V (p.Ile87Val), rs773018103, ClinGen CA590988, ClinVar RCV002003993, ExAC rs773018103, REVEL 0.12, CADD 22.20, Uncertain significance, not provided
- A89D (p.Ala89Asp), NCI-TCGA TCGA novel, REVEL 0.74, CADD 28.80, Variant assessed as somatic; moderate impact.
- I90M (p.Ile90Met), Ensembl rs2100983927, MetaLR 0.49, MetaSVM -0.04
- A91V (p.Ala91Val), rs2523458242, ClinGen CA338404368, ClinVar RCV002998965, ClinVar RCV003984312, Benign, not provided
- L93P (p.Leu93Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- I94T (p.Ile94Thr), gnomAD rs1340363261, REVEL 0.76, CADD 28.20
- G95R (p.Gly95Arg), gnomAD rs1274149949, REVEL 0.56, CADD 25.40
- V96M (p.Val96Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E97* (p.Glu97Ter), rs1650502695, ClinGen CA338404315, ClinVar RCV003231703, MutPred 0.59, Uncertain significance
- E97K (p.Glu97Lys), rs1650502695, ClinGen CA338404318, ClinVar RCV001757009, Ensembl rs1650502695, REVEL 0.41, CADD 23.50, Uncertain significance, not provided
- E97Q (p.Glu97Gln), Ensembl rs1650502695, MetaLR 0.06, MetaSVM -0.98, Uncertain significance
- G99R (p.Gly99Arg), gnomAD rs1359868013
- N100D (p.Asn100Asp), Ensembl rs1569847224, MetaLR 0.03, MetaSVM -1.12
- A101T (p.Ala101Thr), rs774147239, ClinGen CA590963, ClinVar RCV001235450, ExAC rs774147239, REVEL 0.06, CADD 17.50, Uncertain significance, not provided
- A101V (p.Ala101Val), Ensembl rs1650500672, MetaLR 0.03, MetaSVM -1.10
- R103* (p.Arg103Ter), rs768374086, ClinGen CA590962, ClinVar RCV003840403, ExAC rs768374086, CADD 36.00, Likely benign
- R103G (p.Arg103Gly), NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6387, Variant assessed as somatic; moderate impact.
- R103Q (p.Arg103Gln), rs763230714, NCI-TCGA Cosmic COSV6387, ExAC rs763230714, gnomAD rs763230714, REVEL 0.33, CADD 23.30, Variant assessed as somatic; moderate impact.
- I104T (p.Ile104Thr), rs2100978799, ClinGen CA338404246, ClinVar RCV001763175, Ensembl rs2100978799, MutPred 0.64, Uncertain significance, not provided
- G105D (p.Gly105Asp), Ensembl rs1650499415, MetaLR 0.17, MetaSVM -0.91
- R106T (p.Arg106Thr), Ensembl rs2100978770, MetaLR 0.45, MetaSVM 0.17
- A108G (p.Ala108Gly), Ensembl rs2100978762
- A108V (p.Ala108Val), Ensembl rs2100978762, MetaLR 0.23, MetaSVM -0.63
- L111F (p.Leu111Phe), Ensembl rs2100978747
- R112Q (p.Arg112Gln), NCI-TCGA TCGA novel, Ensembl rs2100978738, Variant assessed as somatic; moderate impact.
- R112W (p.Arg112Trp), rs2100978741, ClinGen CA338404169, ClinVar RCV002811213, Ensembl rs2100978741, MutPred 0.65, Uncertain significance, not provided
- N113I (p.Asn113Ile), Ensembl rs2100978723
- N113S (p.Asn113Ser), Ensembl rs2100978723, REVEL 0.25, CADD 21.90
- N113T (p.Asn113Thr), NCI-TCGA Cosmic COSV6388, MetaLR 0.17, MetaSVM -0.90, Variant assessed as somatic; moderate impact.
- L114V (p.Leu114Val), rs1167561582, ClinGen CA338404144, ClinVar RCV003012222, gnomAD rs1167561582, REVEL 0.47, CADD 23.90, Uncertain significance, not provided
- L115F (p.Leu115Phe), Ensembl rs2100978691
- L115I (p.Leu115Ile), Ensembl rs2100978691
- P116L (p.Pro116Leu), Ensembl rs2100978676
- P116S (p.Pro116Ser), Ensembl rs1650497890, MetaLR 0.40, MetaSVM -0.46
- S117A (p.Ser117Ala), TOPMed rs1650497118, REVEL 0.42, CADD 24.70
- S117C (p.Ser117Cys), Ensembl rs1650496805
- S117F (p.Ser117Phe), Ensembl rs1650496805, MetaLR 0.60, MetaSVM 0.20
- N118D (p.Asn118Asp), NCI-TCGA TCGA novel, MetaLR 0.16, MetaSVM -0.98, Variant assessed as somatic; moderate impact.
- N118S (p.Asn118Ser), rs771585496, ClinGen CA590956, ClinVar RCV003422577, ExAC rs771585496, REVEL 0.11, CADD 18.70, Conflicting interpretations, not provided
- D119H (p.Asp119His), Ensembl rs2100978630
- D119V (p.Asp119Val), Ensembl rs2100978623, MetaLR 0.60, MetaSVM 0.48
- V122A (p.Val122Ala), rs2523457619, ClinGen CA338404052, ClinVar RCV002941910, Uncertain significance, not provided
- M123T (p.Met123Thr), TOPMed rs1303421552, gnomAD rs1303421552, REVEL 0.67, CADD 24.60
Public MTOR analysis runs
- MTOR analysis run — MTOR (5,679 variants) — completed 2026-08-18