PON1 (Serum paraoxonase/arylesterase 1) variants and mutations
PON1 (also known as Serum paraoxonase/arylesterase 1) is a human protein-coding gene encoding a serum paraoxonase/arylesterase 1 protein. It hydrolyzes organophosphate metabolites and oxidized lipid products while circulating mainly on HDL particles. Common functional variants and environmental factors strongly influence enzyme activity, affecting toxicant metabolism and possibly oxidative cardiovascular processes. This analysis covers 644 PON1 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes amyotrophic lateral sclerosis, diabetic retinopathy, and atopic eczema. Example PON1 variants include A2V, K3N, and K3R.
Variant analysis overview
- Gene: PON1
- Protein: Serum paraoxonase/arylesterase 1
- UniProt accession: P27169
- Organism: Homo sapiens
- Variants analyzed: 644
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 418 unspecified-consequence records; 72 synonymous variants; 106 missense variants; 7 stop-gained variants; 5 in-frame deletions; 29 frameshift variants; 3 in-frame insertions; 3 splice-region variants; 1 protein altering variant; 1 substitution
- Prediction scores: 512 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: amyotrophic lateral sclerosis, diabetic retinopathy, atopic eczema, obesity disorder, idiopathic pulmonary fibrosis, type 2 diabetes mellitus, coronary artery disorder, hepatocellular carcinoma, breast cancer, chronic kidney disease, rheumatoid arthritis, lung carcinoma.
Protein structure and variant hotspots
- Protein features: 8 binding sites; 3 post-translational modification sites.
- PTM context: 8 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 PON1 variants
Examples include A2V, K3N, K3R, I5T, A6V, T8I, T8S, L9F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2V (p.Ala2Val), rs756961976, NCI-TCGA Cosmic COSV5593, ExAC rs756961976, TOPMed rs756961976, REVEL 0.10, CADD 14.60, Variant assessed as somatic; moderate impact.
- K3N (p.Lys3Asn), Ensembl rs1271040942
- K3R (p.Lys3Arg), TOPMed rs1807970012
- I5T (p.Ile5Thr), rs763855506, NCI-TCGA Cosmic COSV5593, ExAC rs763855506, gnomAD rs763855506, REVEL 0.04, CADD 7.98, Variant assessed as somatic; moderate impact.
- A6V (p.Ala6Val), 1000Genomes rs150657027, ESP rs150657027, ExAC rs150657027, TOPMed rs150657027, REVEL 0.02, CADD 0.03
- T8I (p.Thr8Ile), NCI-TCGA Cosmic COSV9973, TOPMed rs1807969424, Variant assessed as somatic; moderate impact.
- T8S (p.Thr8Ser), NCI-TCGA Cosmic COSV9973, Variant assessed as somatic; moderate impact.
- L9F (p.Leu9Phe), rs1226777136, NCI-TCGA Cosmic COSV5593, gnomAD rs1226777136, MutPred 0.66, Variant assessed as somatic; moderate impact.
- L9I (p.Leu9Ile), gnomAD rs1226777136, REVEL 0.08, CADD 0.99
- G11R (p.Gly11Arg), Ensembl rs2116333838, REVEL 0.25, CADD 23.60
- G11W (p.Gly11Trp), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- M12I (p.Met12Ile), ExAC rs760138990, TOPMed rs760138990, gnomAD rs760138990, REVEL 0.06, CADD 8.71, Uncertain significance, not specified
- M12T (p.Met12Thr), Ensembl rs1807968954
- G13E (p.Gly13Glu), TOPMed rs969770739, gnomAD rs969770739, REVEL 0.17, CADD 6.13
- A15T (p.Ala15Thr), NCI-TCGA Cosmic COSV5593, REVEL 0.15, CADD 21.90, Variant assessed as somatic; moderate impact.
- F17L (p.Phe17Leu), ExAC rs763313991, gnomAD rs763313991, REVEL 0.07, CADD 10.90
- R18G (p.Arg18Gly), rs201783178, ClinGen CA4350440, ClinVar RCV004122454, 1000Genomes rs201783178, REVEL 0.08, CADD 10.80, Uncertain significance, not specified
- N19D (p.Asn19Asp), rs141948033, ClinGen CA4350439, ClinVar RCV003433941, 1000Genomes rs141948033, REVEL 0.05, CADD 13.10, Likely benign, not provided
- N19S (p.Asn19Ser), TOPMed rs1807968057, gnomAD rs1807968057, REVEL 0.03, CADD 14.90
- H20L (p.His20Leu), gnomAD rs1807967662, REVEL 0.08, CADD 14.50
- H20N (p.His20Asn), ExAC rs771886998, gnomAD rs771886998, REVEL 0.03, CADD 12.90
- Q21* (p.Gln21Ter), ESP rs148153353, TOPMed rs148153353, gnomAD rs148153353, CADD 36.00
- Q21R (p.Gln21Arg), TOPMed rs1807967518, gnomAD rs1807967518, REVEL 0.07, CADD 5.68
- S22F (p.Ser22Phe), ExAC rs745880900, TOPMed rs745880900, gnomAD rs745880900, REVEL 0.10, CADD 16.10
- S22Y (p.Ser22Tyr), ExAC rs745880900, TOPMed rs745880900, gnomAD rs745880900, REVEL 0.12, CADD 13.90
- S23A (p.Ser23Ala), ESP rs146211440, ExAC rs146211440, TOPMed rs146211440, gnomAD rs146211440, REVEL 0.09, CADD 15.40
- S23F (p.Ser23Phe), ExAC rs757063246
- Y24* (p.Tyr24Ter), NCI-TCGA Cosmic COSV9973, gnomAD rs1328564504, CADD 36.00, Variant assessed as somatic; high impact.
- T26I (p.Thr26Ile), gnomAD rs1369299099, REVEL 0.11, CADD 3.66
- R27* (p.Arg27Ter), rs565598241, NCI-TCGA Cosmic COSV5593, 1000Genomes rs565598241, TOPMed rs565598241, CADD 36.00, Variant assessed as somatic; high impact.
- R27G (p.Arg27Gly), 1000Genomes rs565598241, TOPMed rs565598241, gnomAD rs565598241, REVEL 0.29, CADD 23.80
- R27Q (p.Arg27Gln), 1000Genomes rs551653548, ExAC rs551653548, TOPMed rs551653548, gnomAD rs551653548, REVEL 0.28, CADD 24.40
- L28F (p.Leu28Phe), ExAC rs747905594, TOPMed rs747905594, gnomAD rs747905594, REVEL 0.01, CADD 0.30
- N29I (p.Asn29Ile), gnomAD rs1488781434, REVEL 0.11, CADD 15.80
- N29S (p.Asn29Ser), gnomAD rs1488781434, REVEL 0.10, CADD 14.50
- A30D (p.Ala30Asp), ExAC rs780715270, gnomAD rs780715270, REVEL 0.22, CADD 23.10
- A30T (p.Ala30Thr), NCI-TCGA TCGA novel, REVEL 0.05, CADD 22.70, Variant assessed as somatic; moderate impact.
- L31F (p.Leu31Phe), ExAC rs754456047, TOPMed rs754456047, gnomAD rs754456047, REVEL 0.08, CADD 4.87, Likely benign, not specified
- R32* (p.Arg32Ter), 1000Genomes rs199851417, ExAC rs199851417, TOPMed rs199851417, gnomAD rs199851417, CADD 38.00
- R32L (p.Arg32Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R32Q (p.Arg32Gln), TOPMed rs913577189, gnomAD rs913577189, REVEL 0.20, CADD 19.30
- Q35* (p.Gln35Ter), TOPMed rs1193411891, gnomAD rs1193411891, CADD 32.00
- Q35P (p.Gln35Pro), ExAC rs766838119, gnomAD rs766838119, REVEL 0.09, CADD 1.25
- P36L (p.Pro36Leu), Ensembl rs1807817988, REVEL 0.07, CADD 15.40
- P36T (p.Pro36Thr), ExAC rs750769700, TOPMed rs750769700, gnomAD rs750769700, REVEL 0.18, CADD 17.50
- V37A (p.Val37Ala), gnomAD rs1226677662, REVEL 0.15, CADD 16.20
- V37I (p.Val37Ile), rs987766326, NCI-TCGA Cosmic COSV5593, 1000Genomes rs987766326, TOPMed rs987766326, REVEL 0.05, CADD 1.15, Likely benign, not specified
- V37L (p.Val37Leu), 1000Genomes rs987766326, TOPMed rs987766326, gnomAD rs987766326, REVEL 0.09, CADD 3.22
- E38* (p.Glu38Ter), rs769580289, NCI-TCGA Cosmic COSV5593, TOPMed rs769580289, gnomAD rs769580289, CADD 35.00, Variant assessed as somatic; high impact.
- E38G (p.Glu38Gly), ExAC rs762087638, gnomAD rs762087638, REVEL 0.13, CADD 22.10
- E38Q (p.Glu38Gln), TOPMed rs769580289, gnomAD rs769580289
- L39F (p.Leu39Phe), TOPMed rs1172851702, REVEL 0.17, CADD 23.90
- P40L (p.Pro40Leu), 1000Genomes rs141665531, ESP rs141665531, ExAC rs141665531, TOPMed rs141665531, REVEL 0.19, CADD 20.20
- C42R (p.Cys42Arg), ESP rs138512790, ExAC rs138512790, TOPMed rs138512790, gnomAD rs138512790, REVEL 0.69, CADD 25.30
- L44V (p.Leu44Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K46R (p.Lys46Arg), TOPMed rs1436893286
- G47* (p.Gly47Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G47E (p.Gly47Glu), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- G47V (p.Gly47Val), gnomAD rs1167827022
- I48M (p.Ile48Met), ESP rs373190914, ExAC rs373190914, TOPMed rs373190914, gnomAD rs373190914, REVEL 0.15, CADD 18.10
- I48N (p.Ile48Asn), TOPMed rs1807816730, REVEL 0.27, CADD 29.20
- I48V (p.Ile48Val), ESP rs144612002, ExAC rs144612002, TOPMed rs144612002, gnomAD rs144612002, REVEL 0.10, CADD 19.50
- E49K (p.Glu49Lys), ESP rs149100710, ExAC rs149100710, TOPMed rs149100710, gnomAD rs149100710, REVEL 0.14, CADD 35.00
- E49Q (p.Glu49Gln), ESP rs149100710, ExAC rs149100710, TOPMed rs149100710, gnomAD rs149100710
- T50I (p.Thr50Ile), Ensembl rs1807778739
- G51D (p.Gly51Asp), ExAC rs761635417, gnomAD rs761635417
- S52F (p.Ser52Phe), gnomAD rs1161525871, REVEL 0.38, CADD 29.80
- E53A (p.Glu53Ala), gnomAD rs1472982874, REVEL 0.56, CADD 31.00
- L55M (p.Leu55Met), rs854560, ClinGen CA123413, ClinVar RCV000133465, ClinVar RCV001682708, REVEL 0.06, CADD 21.10, Benign, not provided
- L55V (p.Leu55Val), 1000Genomes rs854560, ESP rs854560, ExAC rs854560, TOPMed rs854560, REVEL 0.09, CADD 16.40, Benign
- E56D (p.Glu56Asp), NCI-TCGA Cosmic COSV9973, Variant assessed as somatic; moderate impact.
- E56Q (p.Glu56Gln), Ensembl rs1807778080, REVEL 0.13, CADD 24.10
- I57M (p.Ile57Met), NCI-TCGA TCGA novel, TOPMed rs1807778009, Variant assessed as somatic; moderate impact.
- P59S (p.Pro59Ser), 1000Genomes rs199616322, ExAC rs199616322, TOPMed rs199616322, gnomAD rs199616322, REVEL 0.10, CADD 22.50
- N60H (p.Asn60His), Ensembl rs1807777756
- N60K (p.Asn60Lys), TOPMed rs35431117, gnomAD rs35431117, REVEL 0.11, CADD 20.70
- N60T (p.Asn60Thr), NCI-TCGA Cosmic COSV9973, Variant assessed as somatic; moderate impact.
- G61R (p.Gly61Arg), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- L62Q (p.Leu62Gln), gnomAD rs1200269102, REVEL 0.56, CADD 29.70
- A63G (p.Ala63Gly), gnomAD rs1343252260
- A63T (p.Ala63Thr), rs1302207706, NCI-TCGA Cosmic COSV5593, TOPMed rs1302207706, MutPred 0.53, Variant assessed as somatic; moderate impact.
- A63V (p.Ala63Val), gnomAD rs1343252260, REVEL 0.13, CADD 23.00
- I65V (p.Ile65Val), ExAC rs779685500, gnomAD rs779685500, REVEL 0.03, CADD 15.70
- S66N (p.Ser66Asn), Ensembl rs1807776938, REVEL 0.29, CADD 25.10
- G68E (p.Gly68Glu), NCI-TCGA Cosmic COSV5593, Ensembl rs1807747951, Variant assessed as somatic; moderate impact.
- L69* (p.Leu69Ter), ExAC rs771741351, gnomAD rs771741351
- K70N (p.Lys70Asn), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- K70Q (p.Lys70Gln), ExAC rs745352941, TOPMed rs745352941, gnomAD rs745352941, REVEL 0.17, CADD 19.80
- P72A (p.Pro72Ala), Ensembl rs1036786223
- P72L (p.Pro72Leu), TOPMed rs1807747576, REVEL 0.40, CADD 27.30
- G73R (p.Gly73Arg), Ensembl rs1807747402
- G73V (p.Gly73Val), Ensembl rs1807747216
- S76C (p.Ser76Cys), ExAC rs771456410, gnomAD rs771456410, REVEL 0.06, CADD 14.30
- S76N (p.Ser76Asn), ExAC rs749828475, TOPMed rs749828475, gnomAD rs749828475, REVEL 0.02, CADD 2.93
- F77S (p.Phe77Ser), rs2494753996, ClinGen CA368241853, ClinVar RCV004514618, Uncertain significance, not specified
- N78K (p.Asn78Lys), gnomAD rs1208670437, REVEL 0.02, CADD 0.00
- N78S (p.Asn78Ser), TOPMed rs1289956683, gnomAD rs1289956683, REVEL 0.04, CADD 12.60
- P79A (p.Pro79Ala), ExAC rs756493526, gnomAD rs756493526, REVEL 0.19, CADD 15.20
- P79H (p.Pro79His), rs371338407, ESP rs371338407, ExAC rs371338407, TOPMed rs371338407, REVEL 0.19, CADD 19.90, Variant assessed as somatic; moderate impact.
- P79R (p.Pro79Arg), ESP rs371338407, ExAC rs371338407, TOPMed rs371338407, gnomAD rs371338407
- P79S (p.Pro79Ser), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- N80S (p.Asn80Ser), ExAC rs781527817, TOPMed rs781527817, gnomAD rs781527817, REVEL 0.06, CADD 7.85
- S81G (p.Ser81Gly), TOPMed rs994030364, gnomAD rs994030364, REVEL 0.04, CADD 12.80
- S81R (p.Ser81Arg), gnomAD rs1295722236, REVEL 0.02, CADD 0.11
- G83R (p.Gly83Arg), ExAC rs755298318, gnomAD rs755298318, REVEL 0.64, CADD 28.00
- G83V (p.Gly83Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I85M (p.Ile85Met), gnomAD rs1322986978, REVEL 0.15, CADD 17.60
- L86F (p.Leu86Phe), TOPMed rs939804000, gnomAD rs939804000, REVEL 0.06, CADD 19.20
- L86I (p.Leu86Ile), TOPMed rs939804000, gnomAD rs939804000
- L87Q (p.Leu87Gln), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- M88I (p.Met88Ile), NCI-TCGA Cosmic COSV9973, Variant assessed as somatic; moderate impact.
- M88T (p.Met88Thr), ESP rs367566813, ExAC rs367566813, TOPMed rs367566813, gnomAD rs367566813, REVEL 0.27, CADD 24.50
- D89E (p.Asp89Glu), TOPMed rs1807745467, gnomAD rs1807745467, REVEL 0.37, CADD 23.80
- D89H (p.Asp89His), TOPMed rs1807745574
- D89Y (p.Asp89Tyr), TOPMed rs1807745574, REVEL 0.41, CADD 24.10
- L90P (p.Leu90Pro), 1000Genomes rs72552788, ESP rs72552788, ExAC rs72552788, TOPMed rs72552788, REVEL 0.64, CADD 29.00
- N91K (p.Asn91Lys), TOPMed rs1300799741, gnomAD rs1300799741, REVEL 0.03, CADD 4.88
- N91T (p.Asn91Thr), Ensembl rs1807745179
- E92K (p.Glu92Lys), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- P95Q (p.Pro95Gln), TOPMed rs1807744986, REVEL 0.06, CADD 18.60
- T96I (p.Thr96Ile), TOPMed rs948395172, REVEL 0.05, CADD 12.90
- V97L (p.Val97Leu), ExAC rs753660246, TOPMed rs753660246, gnomAD rs753660246, REVEL 0.07, CADD 18.20
- V97M (p.Val97Met), ExAC rs753660246, TOPMed rs753660246, gnomAD rs753660246, REVEL 0.17, CADD 23.80
- L98W (p.Leu98Trp), ExAC rs760420599, gnomAD rs760420599, REVEL 0.09, CADD 20.30
- L100F (p.Leu100Phe), 1000Genomes rs532844853, ExAC rs532844853, REVEL 0.30, CADD 22.40, Uncertain significance, not specified
- G101A (p.Gly101Ala), ExAC rs773908248, TOPMed rs773908248, gnomAD rs773908248, REVEL 0.08, CADD 1.25
- G101R (p.Gly101Arg), Ensembl rs2116319302, REVEL 0.07, CADD 10.60
- I102V (p.Ile102Val), rs72552787, UniProt VAR 015882, Ensembl rs72552787, MutPred 0.55, Benign
- T103I (p.Thr103Ile), ExAC rs770284447, REVEL 0.03, CADD 0.22
- G104A (p.Gly104Ala), Ensembl rs1481529242
- G104R (p.Gly104Arg), TOPMed rs1205741356, gnomAD rs1205741356, REVEL 0.07, CADD 21.80
- D108Y (p.Asp108Tyr), gnomAD rs1807743396, REVEL 0.27, CADD 23.00
- V109I (p.Val109Ile), 1000Genomes rs61736513, ESP rs61736513, ExAC rs61736513, TOPMed rs61736513, REVEL 0.01, CADD 5.92
- V109L (p.Val109Leu), rs61736513, ClinGen CA230618, ClinVar RCV000106288, 1000Genomes rs61736513, MutPred 0.27, not provided
- S110A (p.Ser110Ala), ExAC rs773545753, TOPMed rs773545753, gnomAD rs773545753, REVEL 0.01, CADD 1.08
- S110P (p.Ser110Pro), ExAC rs773545753, TOPMed rs773545753, gnomAD rs773545753, REVEL 0.09, CADD 7.83
- S111* (p.Ser111Ter), NCI-TCGA Cosmic COSV5593, CADD 42.00, Variant assessed as somatic; high impact.
- N113K (p.Asn113Lys), rs748498563, ClinGen CA4350331, ClinVar RCV004356841, ExAC rs748498563, REVEL 0.32, CADD 23.20, Uncertain significance, not specified
- H115N (p.His115Asn), gnomAD rs774296207, REVEL 0.56, CADD 27.30
- H115Y (p.His115Tyr), gnomAD rs774296207, REVEL 0.67, CADD 27.20
- G116V (p.Gly116Val), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- T119I (p.Thr119Ile), TOPMed rs1298308000, gnomAD rs1298308000
- T119R (p.Thr119Arg), TOPMed rs1298308000, gnomAD rs1298308000, REVEL 0.28, CADD 26.00
- F120C (p.Phe120Cys), ExAC rs368620674, gnomAD rs368620674, REVEL 0.28, CADD 27.60
- F120S (p.Phe120Ser), ExAC rs368620674, gnomAD rs368620674
- T121I (p.Thr121Ile), ESP rs147867887, ExAC rs147867887, TOPMed rs147867887, gnomAD rs147867887, REVEL 0.02, CADD 14.90
- D122G (p.Asp122Gly), ExAC rs758361623
- E123K (p.Glu123Lys), NCI-TCGA Cosmic COSV5593, REVEL 0.04, CADD 16.10, Variant assessed as somatic; moderate impact.
- E123V (p.Glu123Val), 1000Genomes rs189946844, ExAC rs189946844, gnomAD rs189946844, REVEL 0.10, CADD 33.00
- D124N (p.Asp124Asn), ExAC rs756094547, TOPMed rs756094547, gnomAD rs756094547, REVEL 0.16, CADD 33.00
- A126T (p.Ala126Thr), rs148785172, ClinGen CA4350300, ClinVar RCV001355528, 1000Genomes rs148785172, REVEL 0.04, CADD 0.10, Uncertain significance, not provided
- A126V (p.Ala126Val), ExAC rs751404534, TOPMed rs751404534, gnomAD rs751404534, REVEL 0.09, CADD 20.90
- M127I (p.Met127Ile), 1000Genomes rs202062288, ExAC rs202062288, TOPMed rs202062288, gnomAD rs202062288, REVEL 0.05, CADD 1.44
- M127R (p.Met127Arg), rs144390653, ClinGen CA4350298, ClinVar RCV003423650, ClinVar RCV005927501, REVEL 0.30, CADD 22.60, Likely benign, not provided
- L129F (p.Leu129Phe), TOPMed rs1807655703, REVEL 0.45, CADD 24.10
- L130P (p.Leu130Pro), TOPMed rs1807655597, gnomAD rs1807655597, REVEL 0.50, CADD 26.90
- V131M (p.Val131Met), TOPMed rs934788389, gnomAD rs934788389, REVEL 0.46, CADD 24.90
- V132M (p.Val132Met), Ensembl rs2116314324
- H134D (p.His134Asp), gnomAD rs1563597857, REVEL 0.64, CADD 26.70
- H134Q (p.His134Gln), ExAC rs774866534, gnomAD rs774866534, REVEL 0.52, CADD 24.10
- H134R (p.His134Arg), 1000Genomes rs536888659, ExAC rs536888659, gnomAD rs536888659, REVEL 0.74, CADD 25.40
- D136G (p.Asp136Gly), Ensembl rs1585696779
- K138N (p.Lys138Asn), NCI-TCGA TCGA novel, REVEL 0.06, CADD 16.40, Variant assessed as somatic; moderate impact.
- V141M (p.Val141Met), Ensembl rs1788054762, REVEL 0.36, CADD 23.80
- E142G (p.Glu142Gly), Ensembl rs1807654295
- E142Q (p.Glu142Gln), TOPMed rs1191875633, gnomAD rs1191875633, REVEL 0.37, CADD 25.50
- L143S (p.Leu143Ser), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- L143V (p.Leu143Val), rs760914005, ExAC rs760914005, TOPMed rs760914005, gnomAD rs760914005, REVEL 0.03, CADD 0.24, Variant assessed as somatic; moderate impact.
- K145I (p.Lys145Ile), Ensembl rs1807653945
- K145N (p.Lys145Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K145Q (p.Lys145Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F146C (p.Phe146Cys), TOPMed rs1807653748
- F146L (p.Phe146Leu), TOPMed rs1807653848, REVEL 0.35, CADD 26.50
- F146V (p.Phe146Val), NCI-TCGA Cosmic COSV5593, Variant assessed as somatic; moderate impact.
- Q147* (p.Gln147Ter), TOPMed rs1396950606, gnomAD rs1396950606, CADD 37.00
- E148G (p.Glu148Gly), Ensembl rs1807653327
- E148K (p.Glu148Lys), ExAC rs775970921, TOPMed rs775970921, gnomAD rs775970921, REVEL 0.10, CADD 23.10, Uncertain significance, not specified
- E149G (p.Glu149Gly), TOPMed rs1167184764, REVEL 0.08, CADD 24.20
- E149K (p.Glu149Lys), ExAC rs772172917, gnomAD rs772172917
- E150K (p.Glu150Lys), ExAC rs746170718, gnomAD rs746170718, REVEL 0.10, CADD 24.30
Public PON1 analysis runs
- PON1 analysis run — PON1 (644 variants) — completed 2026-08-21