APOB (Apolipoprotein B-100) variants and mutations
APOB (also known as Apolipoprotein B-100) is a human protein-coding gene encoding an apolipoprotein B-100 protein. It provides the structural backbone for triglyceride-rich lipoproteins and LDL, while ApoB-100 also mediates LDL-receptor binding and clearance. Pathogenic variants can cause familial hypobetalipoproteinemia or defective ApoB-related hypercholesterolemia depending on their effect on particle assembly and receptor binding. This analysis covers 7,169 APOB variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes hypercholesterolemia, autosomal dominant, type B, Hypercholesterolemia, and familial hypobetalipoproteinemia 1. Example APOB variants include M1?, D2A, and D2G.
Variant analysis overview
- Gene: APOB
- Protein: Apolipoprotein B-100
- UniProt accession: P04114
- Organism: Homo sapiens
- Variants analyzed: 7169
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 6,693 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 200 missense variants; 221 synonymous variants; 32 frameshift variants; 16 stop-gained variants; 5 in-frame deletions
- Prediction scores: 5,423 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypercholesterolemia, autosomal dominant, type B, Hypercholesterolemia, familial hypobetalipoproteinemia 1, familial hypercholesterolemia, metabolic disease, hypobetalipoproteinemia, coronary artery disorder, Disorder of lipid metabolism, cardiovascular disorder, hyperlipidemia, hypercholesterolemia, familial, 1, metabolic syndrome.
Protein structure and variant hotspots
- Protein features: 1 domains; 23 post-translational modification sites.
- Structural context: 884 variants have structural context.
- PTM context: 31 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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable APOB variants
Examples include M1?, D2A, D2G, D2N, P3L, P3Q, P4L, P4R. 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.
- D2A (p.Asp2Ala), rs1664204321, ClinGen CA345966488, ClinVar RCV002357962, Ensembl rs1664204321, Uncertain significance, Cardiovascular phenotype
- D2G (p.Asp2Gly), Ensembl rs1664204321, REVEL 0.03, MetaLR 0.00, Uncertain significance
- D2N (p.Asp2Asn), rs1664204375, ClinGen CA345966497, ClinVar RCV003786423, gnomAD rs1664204375, REVEL 0.08, MetaLR 0.01, Uncertain significance, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- P3L (p.Pro3Leu), rs1448292619, ClinGen CA345966469, ClinVar RCV001141379, ClinVar RCV001141380, REVEL 0.03, MetaLR 0.01, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- P3Q (p.Pro3Gln), rs2465464345, ClinGen CA2825001045, ClinVar RCV004525530, ClinVar RCV006564918, REVEL 0.04, MetaLR 0.01, Likely benign, Cardiovascular phenotype
- P4L (p.Pro4Leu), TOPMed rs1270559010, gnomAD rs1270559010, REVEL 0.02, MetaLR 0.01
- P4R (p.Pro4Arg), TOPMed rs1270559010, gnomAD rs1270559010, REVEL 0.03, MetaLR 0.01
- P6T (p.Pro6Thr), TOPMed rs1572806428, REVEL 0.10, MetaLR 0.01, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- A7E (p.Ala7Glu), Ensembl rs1420256121, REVEL 0.02, MetaLR 0.01, Uncertain significance
- A7T (p.Ala7Thr), gnomAD rs1329077757, REVEL 0.02, MetaLR 0.01
- A7V (p.Ala7Val), rs1420256121, ClinGen CA345966360, ClinVar RCV002424192, Ensembl rs1420256121, REVEL 0.03, MetaLR 0.01, Uncertain significance, Cardiovascular phenotype
- L9P (p.Leu9Pro), 1000Genomes rs1558270119, REVEL 0.17, MetaLR 0.01
- A10E (p.Ala10Glu), rs910952630, ClinGen CA43470296, ClinVar RCV004525464, Ensembl rs910952630, REVEL 0.17, MetaLR 0.01, Uncertain significance, Cardiovascular phenotype
- A10T (p.Ala10Thr), TOPMed rs1159157996, REVEL 0.01, MetaLR 0.01
- A10V (p.Ala10Val), Ensembl rs910952630, REVEL 0.05, MetaLR 0.01, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- L11P (p.Leu11Pro), rs2465464174, ClinGen CA345966288, ClinVar RCV004525470, ClinVar RCV006259572, REVEL 0.06, MetaLR 0.01, Uncertain significance, Cardiovascular phenotype; not provided; Hypercholesterolemia, autosomal dominant
- L12P (p.Leu12Pro), rs758450840, ClinGen CA43470283, ClinVar RCV001141375, ClinVar RCV001141376, REVEL 0.10, MetaLR 0.02, Conflicting interpretations, not provided; Cardiovascular phenotype
- A13V (p.Ala13Val), rs933648948, ClinGen CA43470276, cosmic curated COSV10585, ClinVar RCV002357456, REVEL 0.05, MetaLR 0.01, Uncertain significance, Cardiovascular phenotype
- L14P (p.Leu14Pro), TOPMed rs922885039, gnomAD rs922885039, REVEL 0.19, MetaLR 0.03, Benign, Cardiovascular phenotype
- P15S (p.Pro15Ser), Ensembl rs1664201261, REVEL 0.01, MetaLR 0.01
- A16V (p.Ala16Val), gnomAD rs1456580375, REVEL 0.06, MetaLR 0.01, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- L18Q (p.Leu18Gln), rs1664200226, ClinGen CA345966156, ClinVar RCV002347265, gnomAD rs1664200226, REVEL 0.13, MetaLR 0.01, Uncertain significance, Cardiovascular phenotype
- L19P (p.Leu19Pro), TOPMed rs1664200167, REVEL 0.25, MetaLR 0.02
- L19Q (p.Leu19Gln), TOPMed rs1664200167, MetaLR 0.02, MetaSVM -1.04, Uncertain significance, not provided
- L19V (p.Leu19Val), Ensembl rs2103390451, REVEL 0.04, MetaLR 0.01
- L22P (p.Leu22Pro), Ensembl rs972976755, REVEL 0.09, MetaLR 0.01
- A23E (p.Ala23Glu), ExAC rs748301384, TOPMed rs748301384, gnomAD rs748301384, REVEL 0.12, MetaLR 0.01
- A23S (p.Ala23Ser), rs2465463680, ClinGen CA345966104, ClinVar RCV003887228, REVEL 0.03, MetaLR 0.01, Uncertain significance, not provided
- A23V (p.Ala23Val), ExAC rs748301384, TOPMed rs748301384, gnomAD rs748301384, REVEL 0.12, MetaLR 0.01
- G24D (p.Gly24Asp), rs1245590542, ClinGen CA345966097, ClinVar RCV003112756, 1000Genomes rs1245590542, REVEL 0.01, MetaLR 0.01, Likely benign, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- G24S (p.Gly24Ser), TOPMed rs1481244657, gnomAD rs1481244657, REVEL 0.01, MetaLR 0.01, Likely benign, Cardiovascular phenotype
- E28* (p.Glu28Ter), TOPMed rs1264357217, gnomAD rs1264357217, CADD 34.00, Likely benign
- E28K (p.Glu28Lys), cosmic curated COSV51947, TOPMed rs1264357217, gnomAD rs1264357217, REVEL 0.01, MetaLR 0.01, Likely benign
- E28Q (p.Glu28Gln), rs1264357217, ClinGen CA345966061, ClinVar RCV002430342, ClinVar RCV004700741, REVEL 0.01, MetaLR 0.01, Conflicting interpretations, not specified; Cardiovascular phenotype
- E28V (p.Glu28Val), Ensembl rs2103389992, REVEL 0.03, MetaLR 0.01
- E29K (p.Glu29Lys), rs768728964, ClinGen CA065835, cosmic curated COSV10508, ClinVar RCV000775600, REVEL 0.06, MetaLR 0.01, Uncertain significance, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- E29Q (p.Glu29Gln), NCI-TCGA TCGA novel, MetaLR 0.01, MetaSVM -0.96, Variant assessed as somatic; moderate impact.
- E30K (p.Glu30Lys), ExAC rs747305859, gnomAD rs747305859, REVEL 0.06, MetaLR 0.01
- M31I (p.Met31Ile), Ensembl rs1572805923, REVEL 0.01, MetaLR 0.01, Uncertain significance, Cardiovascular phenotype
- L32R (p.Leu32Arg), TOPMed rs1350695060, gnomAD rs1350695060, REVEL 0.16, MetaLR 0.01
- E33* (p.Glu33Ter), NCI-TCGA Cosmic COSV5195, cosmic curated COSV51951, Variant assessed as somatic; high impact.
- N34D (p.Asn34Asp), gnomAD rs1321025524, REVEL 0.05, MetaLR 0.01
- V35D (p.Val35Asp), TOPMed rs1664187742, MetaLR 0.01, MetaSVM -0.96
- S36T (p.Ser36Thr), rs200464882, ClinGen CA044850, ClinVar RCV000775599, ClinVar RCV002067321, REVEL 0.01, MetaLR 0.01, Likely benign, Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- L37P (p.Leu37Pro), ExAC rs749171742, TOPMed rs749171742, gnomAD rs749171742, REVEL 0.03, MetaLR 0.01, Uncertain significance
- L37Q (p.Leu37Gln), rs749171742, ClinGen CA345965825, ClinVar RCV001184870, ExAC rs749171742, REVEL 0.02, MetaLR 0.01, Uncertain significance, Familial hypercholesterolemia
- V38A (p.Val38Ala), gnomAD rs1664187017, REVEL 0.01, MetaLR 0.01
- P40S (p.Pro40Ser), NCI-TCGA TCGA novel, MetaLR 0.01, MetaSVM -1.01, Likely benign, Cardiovascular phenotype
- K41E (p.Lys41Glu), gnomAD rs1392472584, REVEL 0.05, MetaLR 0.01
- D42E (p.Asp42Glu), TOPMed rs965256806, gnomAD rs965256806, REVEL 0.05, MetaLR 0.01
- D42Y (p.Asp42Tyr), ExAC rs748171850, gnomAD rs748171850, REVEL 0.22, MetaLR 0.04
- A43E (p.Ala43Glu), ExAC rs780841518, TOPMed rs780841518, gnomAD rs780841518, REVEL 0.15, MetaLR 0.04, Uncertain significance, Hypercholesterolemia, autosomal dominant, type B
- A43V (p.Ala43Val), rs780841518, ClinGen CA345965285, NCI-TCGA Cosmic COSV5192, cosmic curated COSV51922, Uncertain significance, Familial hypercholesterolemia
- T44A (p.Thr44Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T44I (p.Thr44Ile), NCI-TCGA TCGA novel, MetaLR 0.01, MetaSVM -1.01, Variant assessed as somatic; moderate impact.
- R45* (p.Arg45Ter), NCI-TCGA Cosmic COSV5192, cosmic curated COSV51923, NCI-TCGA Cosmic COSV5194, Variant assessed as somatic; high impact.
- R45G (p.Arg45Gly), rs779776455, ClinGen CA052600, ClinVar RCV000775597, ClinVar RCV003768395, REVEL 0.16, MetaLR 0.03, Conflicting interpretations, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- R45L (p.Arg45Leu), ExAC rs757862180, TOPMed rs757862180, gnomAD rs757862180, MetaLR 0.03, MetaSVM -1.17, Likely benign
- R45Q (p.Arg45Gln), rs757862180, ClinGen CA052980, cosmic curated COSV10508, ClinVar RCV003072942, REVEL 0.20, MetaLR 0.03, Likely benign, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- K47E (p.Lys47Glu), Ensembl rs1664155661
- H48L (p.His48Leu), rs1415387096, ClinGen CA345965254, ClinVar RCV001178440, ClinVar RCV002558881, REVEL 0.12, MetaLR 0.02, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- H48Q (p.His48Gln), rs1404729103, ClinGen CA345965253, ClinVar RCV003785661, TOPMed rs1404729103, REVEL 0.10, MetaLR 0.04, Uncertain significance, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- H48Y (p.His48Tyr), TOPMed rs1664155527, gnomAD rs1664155527, REVEL 0.14, MetaLR 0.04, Uncertain significance, not provided
- R50L (p.Arg50Leu), TOPMed rs1465696669, gnomAD rs1465696669, REVEL 0.35, MetaLR 0.26, Uncertain significance
- R50Q (p.Arg50Gln), rs1465696669, ClinGen CA345965244, cosmic curated COSV51926, ClinVar RCV000845564, REVEL 0.27, MetaLR 0.23, Conflicting interpretations, Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- R50W (p.Arg50Trp), rs749903604, ClinGen CA053843, cosmic curated COSV51944, ClinVar RCV000505221, REVEL 0.36, MetaLR 0.25, Conflicting interpretations, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- K51E (p.Lys51Glu), NCI-TCGA Cosmic COSV9926, cosmic curated COSV99263, Variant assessed as somatic; moderate impact.
- K51Q (p.Lys51Gln), rs1664155102, ClinGen CA345965241, ClinVar RCV001838368, Ensembl rs1664155102, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- K51R (p.Lys51Arg), rs764776276, ClinGen CA053879, NCI-TCGA Cosmic COSV5193, cosmic curated COSV51934, REVEL 0.20, MetaLR 0.25, Conflicting interpretations, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Y52F (p.Tyr52Phe), NCI-TCGA TCGA novel, MetaLR 0.58, MetaSVM 0.29, Variant assessed as somatic; moderate impact.
- Y52H (p.Tyr52His), rs757747864, ClinGen CA053900, ClinVar RCV000497025, ClinVar RCV001180280, REVEL 0.69, MetaLR 0.64, Uncertain significance, Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- T53A (p.Thr53Ala), Ensembl rs1553301271, REVEL 0.02, MetaLR 0.05, Uncertain significance
- T53I (p.Thr53Ile), ExAC rs754435889, gnomAD rs754435889
- T53P (p.Thr53Pro), Ensembl rs1553301271, REVEL 0.08, MetaLR 0.06, Uncertain significance
- T53S (p.Thr53Ser), rs1553301271, ClinGen CA345965225, ClinVar RCV000776682, Ensembl rs1553301271, Uncertain significance, Familial hypercholesterolemia
- Y54H (p.Tyr54His), gnomAD rs1444080943, REVEL 0.83, MetaLR 0.68
- Y56H (p.Tyr56His), rs150496608, ClinGen CA054371, ClinVar RCV001180279, ClinVar RCV002393403, REVEL 0.55, MetaLR 0.10, Conflicting interpretations, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- A58S (p.Ala58Ser), gnomAD rs1342403087, REVEL 0.25, MetaLR 0.26
- S60N (p.Ser60Asn), TOPMed rs1439559056, gnomAD rs1439559056, REVEL 0.22, MetaLR 0.24
- S60R (p.Ser60Arg), rs1225537247, ClinGen CA345965171, ClinVar RCV002410157, Uncertain significance, Cardiovascular phenotype
- S61F (p.Ser61Phe), gnomAD rs1323491302, REVEL 0.21, MetaLR 0.26
- S62I (p.Ser62Ile), NCI-TCGA TCGA novel, MetaLR 0.22, MetaSVM -0.65, Variant assessed as somatic; moderate impact.
- G63R (p.Gly63Arg), rs904819460, ClinGen CA43469085, ClinVar RCV001179472, ClinVar RCV002411680, REVEL 0.21, MetaLR 0.06, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- V64G (p.Val64Gly), TOPMed rs1315155963, gnomAD rs1315155963, REVEL 0.33, MetaLR 0.20
- P65H (p.Pro65His), gnomAD rs1224871215, REVEL 0.13, MetaLR 0.17, Uncertain significance
- P65L (p.Pro65Leu), rs1224871215, ClinGen CA345965117, ClinVar RCV002028206, gnomAD rs1224871215, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- G66R (p.Gly66Arg), rs1664151833, TOPMed rs1664151833, ClinGen CA345965111, ClinVar RCV003801227, REVEL 0.19, MetaLR 0.15, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- A68T (p.Ala68Thr), rs1558577786, ClinGen CA345965081, ClinVar RCV000772241, ClinVar RCV005209524, Uncertain significance, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- D69N (p.Asp69Asn), rs2103388885, ClinGen CA345965066, ClinVar RCV001838513, Ensembl rs2103388885, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- R71G (p.Arg71Gly), TOPMed rs1664151686
- R71I (p.Arg71Ile), NCI-TCGA TCGA novel, MetaLR 0.22, MetaSVM -0.86, Variant assessed as somatic; moderate impact.
- S72G (p.Ser72Gly), 1000Genomes rs572869977, ExAC rs572869977, gnomAD rs572869977, REVEL 0.40, MetaLR 0.30
- S72I (p.Ser72Ile), rs759881866, ClinGen CA055449, ClinVar RCV001950030, ClinVar RCV005453407, REVEL 0.45, MetaLR 0.32, Conflicting interpretations, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- S72N (p.Ser72Asn), rs759881866, ClinGen CA345965013, ClinVar RCV001177981, ExAC rs759881866, REVEL 0.22, MetaLR 0.26, Uncertain significance, Familial hypercholesterolemia
- S72R (p.Ser72Arg), NCI-TCGA Cosmic COSV5195, cosmic curated COSV51957, REVEL 0.41, MetaLR 0.25, Variant assessed as somatic; moderate impact.
- A73D (p.Ala73Asp), rs377171241, ClinGen CA055521, ClinVar RCV000660674, ClinVar RCV001182967, REVEL 0.13, MetaLR 0.11, Conflicting interpretations, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- A73T (p.Ala73Thr), TOPMed rs1664151512
- T74A (p.Thr74Ala), TOPMed rs1468059462, gnomAD rs1468059462, REVEL 0.13, MetaLR 0.12
- R75K (p.Arg75Lys), TOPMed rs906679614, MetaLR 0.02, MetaSVM -1.04
- N77K (p.Asn77Lys), TOPMed rs1004389290, gnomAD rs1004389290, MetaLR 0.12, MetaSVM -0.96, Likely benign
- C78F (p.Cys78Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C78W (p.Cys78Trp), TOPMed rs1664151144, MetaLR 0.06, MetaSVM -1.17
- V80L (p.Val80Leu), 1000Genomes rs80179164, REVEL 0.19, MetaLR 0.05
- E81D (p.Glu81Asp), NCI-TCGA TCGA novel, Ensembl rs1664121745, REVEL 0.32, MetaLR 0.24, Uncertain significance, not provided
- E81K (p.Glu81Lys), TOPMed rs1223090099, gnomAD rs1223090099, REVEL 0.32, MetaLR 0.29
- E83* (p.Glu83Ter), cosmic curated COSV10508, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- V84A (p.Val84Ala), Ensembl rs1664121393
- V84F (p.Val84Phe), rs1288338249, ClinGen CA345964374, ClinVar RCV002434929, Uncertain significance, Cardiovascular phenotype
- V84L (p.Val84Leu), rs1288338249, ClinGen CA345964378, ClinVar RCV004417738, TOPMed rs1288338249, REVEL 0.35, MetaLR 0.29, Uncertain significance, Cardiovascular phenotype
- P85S (p.Pro85Ser), rs1664121265, ClinGen CA345964350, ClinVar RCV002001659, ClinVar RCV003128841, REVEL 0.54, MetaLR 0.29, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- L87F (p.Leu87Phe), TOPMed rs1664121073
- C88R (p.Cys88Arg), rs751831504, ClinGen CA056938, ClinVar RCV003781155, ExAC rs751831504, REVEL 0.65, MetaLR 0.06, Likely benign, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- C88Y (p.Cys88Tyr), rs1290557659, ClinGen CA345964305, ClinVar RCV000985336, ClinVar RCV005225177, REVEL 0.52, MetaLR 0.07, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- S89N (p.Ser89Asn), TOPMed rs1226992086, gnomAD rs1226992086, REVEL 0.08, MetaLR 0.05
- S89T (p.Ser89Thr), TOPMed rs1226992086, gnomAD rs1226992086, REVEL 0.03, MetaLR 0.07
- I91T (p.Ile91Thr), 1000Genomes rs148503464, ExAC rs148503464, TOPMed rs148503464, gnomAD rs148503464, REVEL 0.24, MetaLR 0.20, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- T94P (p.Thr94Pro), Ensembl rs1572804173, REVEL 0.29, MetaLR 0.23
- S95G (p.Ser95Gly), rs200318200, ClinVar RCV006590444, 1000Genomes rs200318200, ExAC rs200318200, REVEL 0.13, MetaLR 0.14, Likely benign, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- S95I (p.Ser95Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S95N (p.Ser95Asn), Ensembl rs1572804168, MetaLR 0.09, MetaSVM -1.01
- S95R (p.Ser95Arg), rs143613534, ClinGen CA057414, ClinVar RCV000290098, ClinVar RCV000384933, REVEL 0.08, MetaLR 0.09, Conflicting interpretations, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Q96E (p.Gln96Glu), rs1159073410, ClinGen CA345964174, ClinVar RCV002929073, ClinVar RCV004068059, REVEL 0.03, MetaLR 0.01, Uncertain significance, Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem
- Q96H (p.Gln96His), rs186544754, ClinGen CA057476, ClinVar RCV000289349, ClinVar RCV000344371, REVEL 0.06, MetaLR 0.01, Conflicting interpretations, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Q96P (p.Gln96Pro), TOPMed rs1664120285, REVEL 0.19, MetaLR 0.03
- Q96R (p.Gln96Arg), NCI-TCGA Cosmic COSV9926, cosmic curated COSV99264, Variant assessed as somatic; moderate impact.
- T98I (p.Thr98Ile), rs1367117, ClinGen CA022817, cosmic curated COSV51928, ClinVar RCV000116386, REVEL 0.09, MetaLR 0.00, Benign/Likely benign, Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem
- T98S (p.Thr98Ser), 1000Genomes rs1367117, ESP rs1367117, ExAC rs1367117, TOPMed rs1367117, MetaLR 0.06, MetaSVM -1.04, Benign
- L99V (p.Leu99Val), TOPMed rs1664119618
- K100R (p.Lys100Arg), ExAC rs775252308, gnomAD rs775252308, REVEL 0.02, MetaLR 0.05
- E101A (p.Glu101Ala), gnomAD rs1425429158, REVEL 0.48, MetaLR 0.27
- E101D (p.Glu101Asp), rs2465455223, ClinGen CA345964074, ClinVar RCV002296509, Uncertain significance, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- E101G (p.Glu101Gly), gnomAD rs1425429158, REVEL 0.44, MetaLR 0.31
- E101Q (p.Glu101Gln), NCI-TCGA Cosmic COSV9926, cosmic curated COSV99267, MetaLR 0.23, MetaSVM -0.71, Variant assessed as somatic; moderate impact.
- V102E (p.Val102Glu), TOPMed rs1664119273, REVEL 0.30, MetaLR 0.22
- V102G (p.Val102Gly), TOPMed rs1664119273, MetaLR 0.08, MetaSVM -1.09
- V102M (p.Val102Met), ExAC rs771921277, gnomAD rs771921277, REVEL 0.15, MetaLR 0.19
- Y103C (p.Tyr103Cys), TOPMed rs1664119049, REVEL 0.12, MetaLR 0.16
- Y103H (p.Tyr103His), rs9282603, ClinGen CA057921, ClinVar RCV000440258, ClinVar RCV000497185, REVEL 0.08, MetaLR 0.06, Conflicting interpretations, Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- Y103S (p.Tyr103Ser), TOPMed rs1664119049, MetaLR 0.16, MetaSVM -0.97
- N106D (p.Asn106Asp), Ensembl rs1558577225, REVEL 0.07, MetaLR 0.07
- N106K (p.Asn106Lys), rs371662800, ClinGen CA345963990, ClinVar RCV004305007, ClinGen CA058201, REVEL 0.14, MetaLR 0.15, Uncertain significance, Cardiovascular phenotype
- N106S (p.Asn106Ser), gnomAD rs1245559979, REVEL 0.07, MetaLR 0.09
- P107H (p.Pro107His), NCI-TCGA TCGA novel, MetaLR 0.05, MetaSVM -1.11, Variant assessed as somatic; moderate impact.
- P107L (p.Pro107Leu), rs1270615687, ClinVar RCV004997864, gnomAD rs1270615687, REVEL 0.10, MetaLR 0.03, Uncertain significance, not provided
- P107S (p.Pro107Ser), rs748863083, ClinGen CA058238, ClinVar RCV002558950, ExAC rs748863083, REVEL 0.04, MetaLR 0.01, Conflicting interpretations, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- P107T (p.Pro107Thr), ExAC rs748863083, TOPMed rs748863083, gnomAD rs748863083, REVEL 0.03, MetaLR 0.01, Benign
- E108D (p.Glu108Asp), Ensembl rs2103387462
- E108K (p.Glu108Lys), cosmic curated COSV51942, gnomAD rs970063693, REVEL 0.03, MetaLR 0.09
- E108Q (p.Glu108Gln), NCI-TCGA Cosmic COSV5193, NCI-TCGA Cosmic COSV5194, MetaLR 0.08, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- G109D (p.Gly109Asp), ExAC rs777191260, gnomAD rs777191260, REVEL 0.45, MetaLR 0.32
- K110E (p.Lys110Glu), gnomAD rs1365795487, REVEL 0.05, MetaLR 0.10
- A111T (p.Ala111Thr), NCI-TCGA Cosmic COSV5193, cosmic curated COSV51936, NCI-TCGA Cosmic COSV5195, Variant assessed as somatic; moderate impact.
- L112W (p.Leu112Trp), NCI-TCGA Cosmic COSV9926, cosmic curated COSV99267, MetaLR 0.20, MetaSVM -0.55, Variant assessed as somatic; moderate impact.
- L113M (p.Leu113Met), TOPMed rs1302703616, gnomAD rs1302703616, Likely benign
- L113P (p.Leu113Pro), ExAC rs753318350, gnomAD rs753318350, REVEL 0.16, MetaLR 0.14
- K115E (p.Lys115Glu), TOPMed rs1235995082, REVEL 0.18, MetaLR 0.18
- K117N (p.Lys117Asn), Ensembl rs1664117026, REVEL 0.20, MetaLR 0.23
- N118K (p.Asn118Lys), rs781633079, ClinGen CA059135, ClinVar RCV000264529, ClinVar RCV000377892, REVEL 0.17, MetaLR 0.21, Conflicting interpretations, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- N118S (p.Asn118Ser), gnomAD rs1318539502, REVEL 0.08, MetaLR 0.12
- S119Y (p.Ser119Tyr), NCI-TCGA TCGA novel, MetaLR 0.28, MetaSVM -0.45, Variant assessed as somatic; moderate impact.
- E121D (p.Glu121Asp), gnomAD rs1359469223
- E121K (p.Glu121Lys), cosmic curated COSV10723, TOPMed rs1664116296
- A123D (p.Ala123Asp), NCI-TCGA TCGA novel, MetaLR 0.04, MetaSVM -1.10, Variant assessed as somatic; moderate impact.
- A123P (p.Ala123Pro), gnomAD rs1177975597, REVEL 0.10, MetaLR 0.03
- A125P (p.Ala125Pro), rs1241876329, ClinGen CA345963867, ClinVar RCV004352578, TOPMed rs1241876329, REVEL 0.31, MetaLR 0.25, Uncertain significance, Cardiovascular phenotype
- M126I (p.Met126Ile), TOPMed rs946280035, gnomAD rs946280035, REVEL 0.23, MetaLR 0.25, Uncertain significance, Cardiovascular phenotype
- M126V (p.Met126Val), ESP rs368105761, ExAC rs368105761, TOPMed rs368105761, gnomAD rs368105761, REVEL 0.23, MetaLR 0.20, Uncertain significance, Cardiovascular phenotype; not provided
- S127A (p.Ser127Ala), TOPMed rs1664115578
- S127Y (p.Ser127Tyr), NCI-TCGA Cosmic COSV9926, cosmic curated COSV99266, MetaLR 0.26, MetaSVM -0.46, Variant assessed as somatic; moderate impact.
- R128G (p.Arg128Gly), rs1664115534, ClinGen CA345963848, ClinVar RCV001136559, ClinVar RCV001136560, REVEL 0.07, MetaLR 0.11, Uncertain significance, Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem
- R128S (p.Arg128Ser), ExAC rs535864736, TOPMed rs535864736, gnomAD rs535864736
- Y129C (p.Tyr129Cys), rs201368319, ClinGen CA060102, ClinVar RCV000578022, ClinVar RCV000578076, REVEL 0.24, MetaLR 0.24, Uncertain significance, Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- E130G (p.Glu130Gly), rs759513027, NCI-TCGA Cosmic COSV9926, cosmic curated COSV99268, ExAC rs759513027, REVEL 0.21, MetaLR 0.05, Variant assessed as somatic; moderate impact.
- L131R (p.Leu131Arg), rs2465448933, ClinGen CA345962810, ClinVar RCV004265453, Uncertain significance, Cardiovascular phenotype
- L131V (p.Leu131Val), ExAC rs766149422, gnomAD rs766149422, REVEL 0.14, MetaLR 0.18
- K132R (p.Lys132Arg), rs762667000, ClinVar RCV004989248, ExAC rs762667000, gnomAD rs762667000, REVEL 0.04, MetaLR 0.05, Likely benign, Cardiovascular phenotype
- K132T (p.Lys132Thr), rs762667000, ClinGen CA060241, ClinVar RCV000985337, ClinVar RCV002549644, REVEL 0.21, MetaLR 0.17, Conflicting interpretations, Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- L133P (p.Leu133Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L133V (p.Leu133Val), gnomAD rs1354518734, REVEL 0.05, MetaLR 0.01, Likely benign
Public APOB analysis runs
- APOB analysis run — APOB (7,169 variants) — completed 2026-08-10