LOX (Protein-lysine 6-oxidase) variants and mutations
LOX (also known as Protein-lysine 6-oxidase) is a human protein-coding gene encoding a protein-lysine 6-oxidase protein. It oxidatively initiates covalent crosslinking of collagen and elastin, strengthening arteries and other extracellular matrices. Pathogenic loss-of-function variants can weaken the aortic wall and predispose to familial thoracic aortic aneurysm and dissection. This analysis covers 781 LOX variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes familial thoracic aortic aneurysm and aortic dissection, Abnormality of the cardiovascular system, and Aortic dissection. Example LOX variants include R2C, R2S, and A4P.
Variant analysis overview
- Gene: LOX
- Protein: Protein-lysine 6-oxidase
- UniProt accession: P28300
- Organism: Homo sapiens
- Variants analyzed: 781
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 598 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 74 synonymous variants; 5 splice-region variants; 87 missense variants; 9 frameshift variants; 2 stop-gained variants; 4 substitution
- Prediction scores: 589 variants have prediction scores (75% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial thoracic aortic aneurysm and aortic dissection, Abnormality of the cardiovascular system, Aortic dissection, marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and diss, aortic aneurysm, Inguinal hernia, skin aging, Familial hemophagocytic lymphohistiocytosis, keratoconus, Hernia, coronary artery disorder, Rare disease with thoracic aortic aneurysm and aortic dissection.
Protein structure and variant hotspots
- Protein features: 3 binding sites; 5 post-translational modification sites.
- PTM context: 10 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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable LOX variants
Examples include R2C, R2S, A4P, A4T, W5*, W5R, W5S, T6I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- R2C (p.Arg2Cys), rs746103919, ClinGen CA3384151, ClinVar RCV002657921, ExAC rs746103919, REVEL 0.08, CADD 26.30, Uncertain significance, not provided
- R2S (p.Arg2Ser), ExAC rs746103919, TOPMed rs746103919, gnomAD rs746103919, REVEL 0.07, CADD 24.80, Uncertain significance, not provided
- A4P (p.Ala4Pro), TOPMed rs1580568790
- A4T (p.Ala4Thr), TOPMed rs1580568790, REVEL 0.04, CADD 17.90
- W5* (p.Trp5Ter), NCI-TCGA TCGA novel, CADD 28.00, Variant assessed as somatic; high impact.
- W5R (p.Trp5Arg), ExAC rs770959043, REVEL 0.11, CADD 22.90
- W5S (p.Trp5Ser), rs2532918606, ClinGen CA360878984, ClinVar RCV003673421, Uncertain significance, not provided
- T6I (p.Thr6Ile), ExAC rs747093212, gnomAD rs747093212, REVEL 0.05, CADD 22.80
- V7A (p.Val7Ala), gnomAD rs1754693395, REVEL 0.01, CADD 15.50
- V7M (p.Val7Met), NCI-TCGA Cosmic COSV9914, cosmic curated COSV99140, REVEL 0.02, CADD 18.70, Variant assessed as somatic; moderate impact.
- L8H (p.Leu8His), rs1754693346, ClinGen CA360878901, ClinVar RCV003566976, Uncertain significance, not provided
- L8R (p.Leu8Arg), gnomAD rs1754693346, REVEL 0.08, CADD 23.90
- L9P (p.Leu9Pro), rs2532918571, ClinGen CA360878895, ClinVar RCV003567227, Uncertain significance, not provided
- G11A (p.Gly11Ala), rs750073669, ClinGen CA3384142, ClinVar RCV003693667, ExAC rs750073669, REVEL 0.07, CADD 20.90, Uncertain significance, not provided
- G11E (p.Gly11Glu), ExAC rs750073669, TOPMed rs750073669, gnomAD rs750073669, Uncertain significance
- G11R (p.Gly11Arg), rs370627614, ESP rs370627614, ExAC rs370627614, TOPMed rs370627614, REVEL 0.10, CADD 22.60, Conflicting interpretations, Aortic aneurysm, familial thoracic 10; not provided; Cardiovascular phenotype
- P12R (p.Pro12Arg), 1000Genomes rs561937884, ExAC rs561937884, gnomAD rs561937884, REVEL 0.11, CADD 19.40
- P12S (p.Pro12Ser), 1000Genomes rs529787826, ExAC rs529787826, gnomAD rs529787826, REVEL 0.05, CADD 19.10, Uncertain significance, Cardiovascular phenotype
- P12T (p.Pro12Thr), 1000Genomes rs529787826, ExAC rs529787826, gnomAD rs529787826, REVEL 0.05, CADD 19.00
- L13W (p.Leu13Trp), Ensembl rs1754692774, REVEL 0.10, CADD 24.80
- Q14* (p.Gln14Ter), rs764190606, ClinGen CA3384138, ClinVar RCV003708831, ExAC rs764190606, CADD 38.00, Pathogenic
- L15F (p.Leu15Phe), rs2532918526, ClinGen CA360878790, ClinVar RCV003187658, REVEL 0.08, CADD 22.60, Uncertain significance, Cardiovascular phenotype
- C16S (p.Cys16Ser), ExAC rs762984867, TOPMed rs762984867, gnomAD rs762984867, REVEL 0.19, CADD 23.20, Uncertain significance, not provided
- A17E (p.Ala17Glu), rs765159521, ClinGen CA3384136, ClinVar RCV003187656, ExAC rs765159521, REVEL 0.09, CADD 17.10, Uncertain significance, Cardiovascular phenotype
- A17G (p.Ala17Gly), ExAC rs765159521, TOPMed rs765159521, gnomAD rs765159521, REVEL 0.07, CADD 16.40, Uncertain significance, not provided
- A17T (p.Ala17Thr), NCI-TCGA Cosmic COSV5023, cosmic curated COSV50237, REVEL 0.01, CADD 19.10, Variant assessed as somatic; moderate impact.
- L18I (p.Leu18Ile), rs759346597, ClinVar RCV004590891, ClinVar RCV005594831, ExAC rs759346597, REVEL 0.02, CADD 15.60, Uncertain significance, not provided; Cardiovascular phenotype
- L18P (p.Leu18Pro), rs776769725, ClinGen CA360878739, ClinVar RCV002291885, REVEL 0.23, CADD 22.50, Uncertain significance, not provided
- L18R (p.Leu18Arg), ExAC rs776769725, gnomAD rs776769725, REVEL 0.14, CADD 22.10
- V19A (p.Val19Ala), gnomAD rs1424573441, REVEL 0.10, CADD 19.80
- V19G (p.Val19Gly), gnomAD rs1424573441
- C21* (p.Cys21Ter), rs771172229, ClinGen CA360878693, ClinVar RCV003015874, CADD 36.00, Pathogenic
- C21G (p.Cys21Gly), Ensembl rs1754692201
- C21W (p.Cys21Trp), ExAC rs771172229, TOPMed rs771172229, gnomAD rs771172229, REVEL 0.10, CADD 22.80
- A22G (p.Ala22Gly), rs933016321, ClinGen CA125917678, ClinVar RCV002889430, TOPMed rs933016321, REVEL 0.07, CADD 21.10, Uncertain significance, not provided
- A22P (p.Ala22Pro), ExAC rs760735762, TOPMed rs760735762, gnomAD rs760735762, Uncertain significance
- A22S (p.Ala22Ser), ExAC rs760735762, TOPMed rs760735762, gnomAD rs760735762, REVEL 0.06, CADD 14.40, Uncertain significance
- A22T (p.Ala22Thr), rs760735762, ClinGen CA3384131, ClinVar RCV002037308, ExAC rs760735762, REVEL 0.07, CADD 16.10, Uncertain significance, not provided
- P23A (p.Pro23Ala), Ensembl rs1754691838, REVEL 0.04, CADD 16.40
- P23L (p.Pro23Leu), rs1754691769, ClinGen CA360878670, ClinVar RCV003854510, TOPMed rs1754691769, REVEL 0.05, CADD 19.60, Uncertain significance, not provided
- P24T (p.Pro24Thr), gnomAD rs1754691651, REVEL 0.06, CADD 18.60
- A25T (p.Ala25Thr), rs772082708, ClinGen CA3384129, ClinVar RCV002623923, ClinVar RCV003331442, REVEL 0.01, CADD 15.80, Conflicting interpretations, not specified; Cardiovascular phenotype; not provided
- A25V (p.Ala25Val), ESP rs375966549, ExAC rs375966549, TOPMed rs375966549, gnomAD rs375966549, REVEL 0.05, CADD 21.20
- A26S (p.Ala26Ser), Ensembl rs1005400829, REVEL 0.01, CADD 14.30
- A26T (p.Ala26Thr), NCI-TCGA Cosmic COSV9914, cosmic curated COSV99140, REVEL 0.02, CADD 16.20, Variant assessed as somatic; moderate impact.
- G27A (p.Gly27Ala), ESP rs374368100, gnomAD rs374368100, REVEL 0.07, CADD 19.60, Likely benign, Cardiovascular phenotype
- G27V (p.Gly27Val), rs374368100, ClinGen CA125917651, ClinVar RCV003862699, ClinVar RCV004992918, REVEL 0.05, CADD 20.90, Uncertain significance, Cardiovascular phenotype; not provided
- Q28L (p.Gln28Leu), TOPMed rs1754691081, gnomAD rs1754691081, Uncertain significance, Cardiovascular phenotype
- Q28P (p.Gln28Pro), TOPMed rs1754691081, gnomAD rs1754691081, REVEL 0.12, CADD 23.60
- Q29P (p.Gln29Pro), 1000Genomes rs768939667, ExAC rs768939667, TOPMed rs768939667, gnomAD rs768939667, REVEL 0.09, CADD 21.40, Uncertain significance
- Q29R (p.Gln29Arg), rs2532918340, ClinGen CA2740094065, ClinVar RCV003849405, REVEL 0.04, CADD 16.50, Uncertain significance, Cardiovascular phenotype
- Q30* (p.Gln30Ter), rs2532918329, ClinGen CA360878512, ClinVar RCV002876571, CADD 36.00, Pathogenic
- Q30R (p.Gln30Arg), gnomAD rs1236584777, REVEL 0.03, CADD 18.80
- P31A (p.Pro31Ala), TOPMed rs1307475150, gnomAD rs1307475150, REVEL 0.03, CADD 19.30, Uncertain significance
- P31L (p.Pro31Leu), TOPMed rs974636266
- P31S (p.Pro31Ser), rs1307475150, ClinGen CA360878479, ClinVar RCV003988511, ClinVar RCV006564557, REVEL 0.04, CADD 20.60, Uncertain significance, not specified; not provided
- P32L (p.Pro32Leu), rs780762236, ClinGen CA3384124, cosmic curated COSV50238, ClinVar RCV002226163, REVEL 0.07, CADD 22.70, Likely benign, not specified; not provided; Cardiovascular phenotype
- P32Q (p.Pro32Gln), rs780762236, ClinGen CA360878452, ClinVar RCV001772448, ClinVar RCV005660155, REVEL 0.05, CADD 19.20, Conflicting interpretations, not provided; Cardiovascular phenotype
- P32R (p.Pro32Arg), rs780762236, ClinGen CA360878451, ClinVar RCV003756649, 1000Genomes rs780762236, REVEL 0.03, CADD 19.40, Uncertain significance, Aortic aneurysm, familial thoracic 10
- P32S (p.Pro32Ser), Ensembl rs1754690554, REVEL 0.05, CADD 20.60
- R33C (p.Arg33Cys), ExAC rs756928262, gnomAD rs756928262, REVEL 0.05, CADD 24.10
- R33H (p.Arg33His), TOPMed rs1301371175, gnomAD rs1301371175, REVEL 0.07, CADD 24.20
- R33P (p.Arg33Pro), TOPMed rs1301371175, gnomAD rs1301371175, REVEL 0.13, CADD 24.20
- E34D (p.Glu34Asp), gnomAD rs1295755422, REVEL 0.03, CADD 14.40
- E34G (p.Glu34Gly), TOPMed rs1392060664, gnomAD rs1392060664, REVEL 0.02, CADD 19.40, Uncertain significance, Cardiovascular phenotype
- E34K (p.Glu34Lys), ExAC rs777431502, TOPMed rs777431502, gnomAD rs777431502, REVEL 0.02, CADD 17.40, Uncertain significance, not provided
- E34Q (p.Glu34Gln), rs777431502, ClinGen CA3384122, ClinVar RCV002440035, ClinVar RCV003738276, REVEL 0.02, CADD 10.40, Uncertain significance, not provided; Cardiovascular phenotype
- E34V (p.Glu34Val), TOPMed rs1392060664, gnomAD rs1392060664, REVEL 0.02, CADD 19.00
- P35L (p.Pro35Leu), rs757946184, ClinGen CA125917631, ClinVar RCV001770685, ExAC rs757946184, REVEL 0.08, CADD 14.70, Uncertain significance, not provided
- P35Q (p.Pro35Gln), rs757946184, ClinGen CA3384120, ClinVar RCV001733478, ClinVar RCV002388638, REVEL 0.07, CADD 10.80, Conflicting interpretations, Cardiovascular phenotype; not provided
- P35R (p.Pro35Arg), ExAC rs757946184, TOPMed rs757946184, gnomAD rs757946184, REVEL 0.06, CADD 12.30, Uncertain significance
- P36S (p.Pro36Ser), ExAC rs752726099, gnomAD rs752726099, REVEL 0.06, CADD 17.90, Uncertain significance
- P36T (p.Pro36Thr), rs752726099, ClinGen CA360878374, ClinVar RCV003832562, ExAC rs752726099, REVEL 0.05, CADD 18.00, Uncertain significance, not provided
- A38G (p.Ala38Gly), Ensembl rs2152591688
- A38S (p.Ala38Ser), rs867804256, ClinGen CA125917604, ClinVar RCV001771440, Ensembl rs867804256, REVEL 0.03, CADD 14.80, Uncertain significance, not provided
- A38T (p.Ala38Thr), Ensembl rs867804256, REVEL 0.01, CADD 16.60, Uncertain significance
- P39A (p.Pro39Ala), TOPMed rs1754689317
- G40C (p.Gly40Cys), Ensembl rs867190664, REVEL 0.06, CADD 22.80
- G40D (p.Gly40Asp), gnomAD rs1451725256, REVEL 0.09, CADD 18.80
- A41D (p.Ala41Asp), NCI-TCGA TCGA novel, TOPMed rs984576522, REVEL 0.10, CADD 22.80, Variant assessed as somatic; moderate impact.
- A41T (p.Ala41Thr), cosmic curated COSV50236, ExAC rs753665073, gnomAD rs753665073, REVEL 0.02, CADD 16.60
- A41V (p.Ala41Val), TOPMed rs984576522, REVEL 0.06, CADD 20.80
- W42* (p.Trp42Ter), rs886040966, ClinGen CA10590102, ClinVar RCV000258033, ClinVar RCV000755141, CADD 37.00, Pathogenic
- W42C (p.Trp42Cys), rs1203264499, ClinGen CA360878212, ClinVar RCV003481768, gnomAD rs1203264499, REVEL 0.21, CADD 24.20, Uncertain significance, not provided
- R43H (p.Arg43His), rs1261175120, ClinGen CA360878192, ClinVar RCV003360623, TOPMed rs1261175120, REVEL 0.20, CADD 27.40, Uncertain significance, Cardiovascular phenotype
- R43L (p.Arg43Leu), rs1261175120, ClinGen CA360878186, ClinVar RCV002223709, TOPMed rs1261175120, REVEL 0.13, CADD 24.20, Uncertain significance, not provided
- R43S (p.Arg43Ser), ExAC rs766020979, gnomAD rs766020979, REVEL 0.12, CADD 23.30, Uncertain significance, Cardiovascular phenotype
- Q44H (p.Gln44His), rs934427837, ClinGen CA125917590, ClinVar RCV001280993, TOPMed rs934427837, REVEL 0.04, CADD 17.10, Uncertain significance, Aortic aneurysm, familial thoracic 10
- Q45H (p.Gln45His), rs577482351, ClinGen CA3384114, ClinVar RCV000998420, ClinVar RCV002382234, REVEL 0.01, CADD 18.60, Conflicting interpretations, Cardiovascular phenotype; Familial thoracic aortic aneurysm and aortic dissectio
- Q45R (p.Gln45Arg), rs1754688465, ClinGen CA360878132, ClinVar RCV002572807, Ensembl rs1754688465, REVEL 0.03, CADD 13.40, Conflicting interpretations, Cardiovascular phenotype; not provided
- I46N (p.Ile46Asn), rs1230077744, ClinGen CA360878100, ClinVar RCV002227006, ClinVar RCV003089217, REVEL 0.14, CADD 28.30, Uncertain significance, Aortic aneurysm, familial thoracic 10; not provided
- I46V (p.Ile46Val), TOPMed rs973193565, gnomAD rs973193565, REVEL 0.03, CADD 21.10, Uncertain significance, Cardiovascular phenotype
- Q47* (p.Gln47Ter), rs2532918093, ClinGen CA360878072, ClinVar RCV002389209, CADD 38.00, Likely pathogenic
- W48* (p.Trp48Ter), rs2532918070, ClinGen CA360878025, ClinVar RCV002470472, CADD 37.00, Likely pathogenic
- W48C (p.Trp48Cys), rs2532918070, ClinGen CA360878029, ClinVar RCV002394568, REVEL 0.44, CADD 31.00, Uncertain significance, Cardiovascular phenotype
- W48R (p.Trp48Arg), gnomAD rs1223161697, REVEL 0.45, CADD 28.30, Uncertain significance, not provided
- W48S (p.Trp48Ser), rs2152591655, ClinGen CA360878038, ClinVar RCV001902467, Ensembl rs2152591655, Uncertain significance, not provided
- N50I (p.Asn50Ile), rs2532918055, ClinGen CA360877959, ClinVar RCV004513487, REVEL 0.14, CADD 27.40, Uncertain significance, Cardiovascular phenotype
- N50K (p.Asn50Lys), rs1303506475, ClinGen CA360877949, ClinVar RCV001773835, gnomAD rs1303506475, REVEL 0.09, CADD 24.10, Uncertain significance, Cardiovascular phenotype
- N51D (p.Asn51Asp), TOPMed rs1380970331, gnomAD rs1380970331, REVEL 0.20, CADD 24.00
- N51K (p.Asn51Lys), rs761847558, ClinGen CA3384111, ClinVar RCV000623025, ClinVar RCV001562086, REVEL 0.22, CADD 23.80, Uncertain significance, not provided; Inborn genetic diseases
- G52E (p.Gly52Glu), TOPMed rs1459190604, gnomAD rs1459190604, REVEL 0.49, CADD 26.80, Uncertain significance, Cardiovascular phenotype
- G52R (p.Gly52Arg), rs774886810, ClinGen CA3384110, ClinVar RCV003328058, ClinVar RCV004784141, REVEL 0.44, CADD 27.50, Uncertain significance, Aortic aneurysm, familial thoracic 10; not provided
- G52V (p.Gly52Val), TOPMed rs1459190604, gnomAD rs1459190604, REVEL 0.38, CADD 24.00, Uncertain significance
- G52W (p.Gly52Trp), rs774886810, ClinGen CA125917564, ClinVar RCV002403351, ClinVar RCV005097586, REVEL 0.30, CADD 24.70, Uncertain significance, not provided; Cardiovascular phenotype
- Q53H (p.Gln53His), Ensembl rs865947349, REVEL 0.08, CADD 24.80
- Q53K (p.Gln53Lys), TOPMed rs1397677729, gnomAD rs1397677729, REVEL 0.03, CADD 22.40, Likely benign, Cardiovascular phenotype
- V54M (p.Val54Met), rs1403412780, ClinGen CA360877869, ClinVar RCV002761370, ClinVar RCV004067950, REVEL 0.13, CADD 25.40, Uncertain significance, not provided; Cardiovascular phenotype
- F55L (p.Phe55Leu), TOPMed rs868464861, REVEL 0.10, CADD 24.40, Uncertain significance, not provided; not specified
- F55V (p.Phe55Val), ExAC rs749678357, TOPMed rs749678357, gnomAD rs749678357, Uncertain significance
- S56R (p.Ser56Arg), rs1036096526, ClinGen CA360877796, ClinVar RCV003313480, REVEL 0.15, CADD 22.90, Uncertain significance, not provided
- L57F (p.Leu57Phe), Ensembl rs867989218, REVEL 0.13, CADD 23.30
- L60P (p.Leu60Pro), TOPMed rs1378790528, gnomAD rs1378790528, REVEL 0.02, CADD 22.50
- G61D (p.Gly61Asp), rs1260167996, ClinGen CA360877693, ClinVar RCV003710942, REVEL 0.37, CADD 26.60, Uncertain significance, not provided
- G61R (p.Gly61Arg), rs1030269580, ClinGen CA125917525, ClinVar RCV003843486, ClinVar RCV004634378, REVEL 0.30, CADD 26.90, Uncertain significance, Cardiovascular phenotype; not provided
- G61V (p.Gly61Val), TOPMed rs1260167996, REVEL 0.46, CADD 26.30
- G61S (p.Gly61Ser), rs965557496, []
- S62P (p.Ser62Pro), Ensembl rs2152591629, REVEL 0.10, CADD 22.70
- Q63H (p.Gln63His), rs1754686581, ClinGen CA360877656, ClinVar RCV003187661, Ensembl rs1754686581, REVEL 0.05, CADD 22.30, Uncertain significance, Cardiovascular phenotype
- Y64C (p.Tyr64Cys), ExAC rs775925854, gnomAD rs775925854, REVEL 0.30, CADD 29.60
- Y64S (p.Tyr64Ser), ExAC rs775925854, gnomAD rs775925854
- Q65E (p.Gln65Glu), rs2152591622, ClinGen CA360877631, ClinVar RCV002214359, Ensembl rs2152591622, Uncertain significance, not provided
- Q65R (p.Gln65Arg), rs2152591616, ClinGen CA360877624, ClinVar RCV001752382, Ensembl rs2152591616, REVEL 0.10, CADD 21.80, Uncertain significance, not provided
- P66H (p.Pro66His), Ensembl rs866000420, REVEL 0.44, CADD 28.30
- P66S (p.Pro66Ser), gnomAD rs1248614276, REVEL 0.29, CADD 24.90
- Q67* (p.Gln67Ter), rs1459778601, ClinGen CA360877596, ClinVar RCV002856688, CADD 37.00, Pathogenic
- Q67E (p.Gln67Glu), gnomAD rs1459778601, REVEL 0.03, CADD 21.00, Uncertain significance, not provided
- Q67L (p.Gln67Leu), rs1262315311, ClinGen CA360877588, ClinVar RCV002690309, gnomAD rs1262315311, REVEL 0.03, CADD 22.70, Uncertain significance, not provided
- R68C (p.Arg68Cys), Ensembl rs2152591607, REVEL 0.15, CADD 26.00
- R68L (p.Arg68Leu), rs994242735, ClinGen CA360877568, ClinVar RCV002894293, REVEL 0.11, CADD 24.30, Uncertain significance, not provided
- R68P (p.Arg68Pro), rs994242735, ClinGen CA125917517, ClinVar RCV001803522, ClinVar RCV002422863, REVEL 0.11, CADD 26.50, Uncertain significance, not provided; Aortic aneurysm, familial thoracic 10; Cardiovascular phenotype
- R69C (p.Arg69Cys), rs1321560490, gnomAD rs1321560490, REVEL 0.23, CADD 31.00, Variant assessed as somatic; moderate impact.
- R69H (p.Arg69His), gnomAD rs1257821615, REVEL 0.08, CADD 25.60
- R69L (p.Arg69Leu), rs1257821615, ClinGen CA360877549, ClinVar RCV004513488, REVEL 0.16, CADD 25.40, Uncertain significance, Cardiovascular phenotype
- R70Q (p.Arg70Gln), rs1288155606, ClinGen CA360877540, ClinVar RCV002424176, TOPMed rs1288155606, REVEL 0.13, CADD 24.60, Uncertain significance, Cardiovascular phenotype
- R70W (p.Arg70Trp), rs1225418866, ClinGen CA360877545, ClinVar RCV002024459, gnomAD rs1225418866, REVEL 0.12, CADD 26.20, Uncertain significance, not provided
- D71E (p.Asp71Glu), rs747652187, ClinGen CA3384103, ClinVar RCV002430506, ClinVar RCV005058739, REVEL 0.08, CADD 13.90, Uncertain significance, not provided; Cardiovascular phenotype
- D71H (p.Asp71His), rs777539218, ClinGen CA360877535, ClinVar RCV001866538, ClinVar RCV004641707, REVEL 0.02, CADD 20.40, Uncertain significance, not provided; Cardiovascular phenotype
- D71N (p.Asp71Asn), ExAC rs777539218, TOPMed rs777539218, gnomAD rs777539218, REVEL 0.05, CADD 19.10, Uncertain significance, Cardiovascular phenotype; Aortic aneurysm, familial thoracic 10
- P72L (p.Pro72Leu), rs754947607, ClinGen CA3384101, ClinVar RCV004528709, ExAC rs754947607, REVEL 0.05, CADD 23.10, Uncertain significance, LOX-related disorder
- P72R (p.Pro72Arg), rs754947607, ClinGen CA3384100, ClinVar RCV001965997, ClinVar RCV003382752, REVEL 0.07, CADD 20.10, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- P72T (p.Pro72Thr), rs1754685342, ClinGen CA360877524, ClinVar RCV001935974, TOPMed rs1754685342, REVEL 0.01, CADD 16.50, Uncertain significance, not provided
- G73D (p.Gly73Asp), rs766220173, ClinGen CA3384098, cosmic curated COSV50240, ClinVar RCV002425546, REVEL 0.05, CADD 14.70, Likely benign, not provided; Cardiovascular phenotype
- G73S (p.Gly73Ser), rs1414622659, ClinGen CA360877515, ClinVar RCV002014606, gnomAD rs1414622659, REVEL 0.02, CADD 9.20, Uncertain significance, not provided
- A74D (p.Ala74Asp), gnomAD rs1754684821, REVEL 0.04, CADD 13.20
- A74T (p.Ala74Thr), Ensembl rs1754684891, REVEL 0.02, CADD 12.80, Likely benign, Cardiovascular phenotype
- A74V (p.Ala74Val), gnomAD rs1754684821, REVEL 0.04, CADD 13.40
- A75D (p.Ala75Asp), Ensembl rs1561421528, REVEL 0.01, CADD 4.88
- A75V (p.Ala75Val), Ensembl rs1561421528, REVEL 0.01, CADD 6.68
- V76A (p.Val76Ala), Ensembl rs1198210031, REVEL 0.02, CADD 8.65
- V76D (p.Val76Asp), Ensembl rs1198210031, REVEL 0.04, CADD 13.00
- V76F (p.Val76Phe), NCI-TCGA TCGA novel, REVEL 0.06, CADD 7.74, Variant assessed as somatic; moderate impact.
- P77S (p.Pro77Ser), cosmic curated COSV10507, TOPMed rs1190393348, gnomAD rs1190393348, REVEL 0.01, CADD 1.21, Likely benign, Cardiovascular phenotype
- G78A (p.Gly78Ala), rs774406736, ClinGen CA3384093, ClinVar RCV003306569, ClinVar RCV005061240, REVEL 0.04, CADD 2.03, Conflicting interpretations, Cardiovascular phenotype; not provided
- G78C (p.Gly78Cys), TOPMed rs1442708152, gnomAD rs1442708152, REVEL 0.03, CADD 17.60, Uncertain significance
- G78D (p.Gly78Asp), ExAC rs774406736, TOPMed rs774406736, gnomAD rs774406736, REVEL 0.02, CADD 5.48, Uncertain significance
- G78S (p.Gly78Ser), TOPMed rs1442708152, gnomAD rs1442708152, REVEL 0.02, CADD 9.78, Uncertain significance, Cardiovascular phenotype
- A79G (p.Ala79Gly), TOPMed rs1222238231, gnomAD rs1222238231, REVEL 0.05, CADD 15.40, Uncertain significance, in AAT10
- A79T (p.Ala79Thr), rs752839330, ClinGen CA3384092, ClinVar RCV000755147, ClinVar RCV001584449, REVEL 0.02, CADD 5.38, Conflicting interpretations, not specified; not provided; Cardiovascular phenotype
- N81D (p.Asn81Asp), rs1754683901, ClinGen CA360877371, ClinVar RCV001920111, TOPMed rs1754683901, REVEL 0.01, CADD 1.90, Uncertain significance, not provided
- N81K (p.Asn81Lys), TOPMed rs891932826, gnomAD rs891932826, REVEL 0.03, CADD 8.79, Likely benign
- N81S (p.Asn81Ser), gnomAD rs1443211671, REVEL 0.01, CADD 0.22
- N81T (p.Asn81Thr), gnomAD rs1443211671, REVEL 0.01, CADD 1.28
- A82T (p.Ala82Thr), rs373294433, ClinGen CA125917485, cosmic curated COSV50237, ClinVar RCV004302476, REVEL 0.03, CADD 11.50, Uncertain significance, Cardiovascular phenotype
- S83F (p.Ser83Phe), cosmic curated COSV50237, gnomAD rs1341486354, REVEL 0.08, CADD 21.10, Uncertain significance, Cardiovascular phenotype; not provided
- A84D (p.Ala84Asp), gnomAD rs1231166903, REVEL 0.04, CADD 19.40
- A84S (p.Ala84Ser), rs775808098, ClinGen CA3384090, ClinVar RCV003820422, ExAC rs775808098, REVEL 0.05, CADD 14.90, Uncertain significance, not provided
- A84V (p.Ala84Val), gnomAD rs1231166903, REVEL 0.04, CADD 17.70
- Q86E (p.Gln86Glu), gnomAD rs1283957294, REVEL 0.10, CADD 16.80
- Q86K (p.Gln86Lys), rs1283957294, ClinGen CA360877273, ClinVar RCV002452750, REVEL 0.07, CADD 19.00, Uncertain significance, Cardiovascular phenotype
- P87L (p.Pro87Leu), rs572413728, ClinGen CA3384087, ClinVar RCV001956793, ClinVar RCV003303515, REVEL 0.03, CADD 16.10, Conflicting interpretations, Cardiovascular phenotype; not provided
- P87R (p.Pro87Arg), rs572413728, ClinGen CA360877244, ClinVar RCV003678794, 1000Genomes rs572413728, REVEL 0.05, CADD 14.40, Uncertain significance, not provided
- P87S (p.Pro87Ser), rs746215345, ClinGen CA3384088, ClinVar RCV003665105, ClinVar RCV005363164, REVEL 0.02, CADD 15.90, Uncertain significance, not provided; Cardiovascular phenotype
- P87T (p.Pro87Thr), ExAC rs746215345, TOPMed rs746215345, gnomAD rs746215345, REVEL 0.02, CADD 16.40, Uncertain significance, Cardiovascular phenotype
- R88C (p.Arg88Cys), cosmic curated COSV50240, TOPMed rs997637411, gnomAD rs997637411, REVEL 0.12, CADD 29.00, Uncertain significance
- R88H (p.Arg88His), rs369178929, ClinGen CA3384084, cosmic curated COSV99140, ClinVar RCV001760468, REVEL 0.06, CADD 24.20, Conflicting interpretations, not provided; Cardiovascular phenotype
- R88S (p.Arg88Ser), rs997637411, ClinGen CA125917435, ClinVar RCV003120319, ClinVar RCV004636706, REVEL 0.09, CADD 22.90, Uncertain significance, Aortic aneurysm, familial thoracic 10; Cardiovascular phenotype
- T89S (p.Thr89Ser), ExAC rs754399452, TOPMed rs754399452, gnomAD rs754399452, REVEL 0.02, CADD 17.90, Uncertain significance, not provided
- P90L (p.Pro90Leu), ExAC rs749280415, TOPMed rs749280415, gnomAD rs749280415, REVEL 0.06, CADD 22.00, Uncertain significance, not provided
- P90R (p.Pro90Arg), rs749280415, ClinGen CA360877202, ClinVar RCV003841603, REVEL 0.06, CADD 21.30, Uncertain significance, not provided
Public LOX analysis runs
- LOX analysis run — LOX (781 variants) — completed 2026-08-18