CPT2 (P23786) variants and mutations
CPT2 (also known as P23786) is a human protein-coding gene encoding a carnitine O-palmitoyltransferase 2, mitochondrial protein. It converts long-chain acylcarnitines back to acyl-CoA inside mitochondria, allowing long-chain fatty acids to undergo beta-oxidation. Biallelic deficiency causes a spectrum from lethal neonatal disease to recurrent exercise- or fasting-triggered rhabdomyolysis. This analysis covers 1,052 CPT2 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes carnitine palmitoyl transferase II deficiency, myopathic form, carnitine palmitoyl transferase II deficiency, severe infantile form, and carnitine palmitoyl transferase II deficiency, neonatal form. Example CPT2 variants include V2E, V2L, and V2M.
Variant analysis overview
- Gene: CPT2
- Protein: P23786
- UniProt accession: P23786
- Organism: Homo sapiens
- Variants analyzed: 1052
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 843 unspecified-consequence records; 125 missense variants; 17 frameshift variants; 56 synonymous variants; 4 stop-gained variants; 1 in-frame deletions; 2 splice-region variants; 4 substitution
- Prediction scores: 863 variants have prediction scores (82% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: carnitine palmitoyl transferase II deficiency, myopathic form, carnitine palmitoyl transferase II deficiency, severe infantile form, carnitine palmitoyl transferase II deficiency, neonatal form, carnitine palmitoyltransferase II deficiency, hereditary disease, Acute rhabdomyolysis, angina pectoris, cardiovascular disorder, Abnormality of the musculature, Seizure, Abnormality of the nervous system, Generalized hypotonia.
Protein structure and variant hotspots
- Protein features: 4 binding sites; 12 post-translational modification sites.
- PTM context: 5 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 CPT2 variants
Examples include V2E, V2L, V2M, V2A, V2V, P3L, P3S, P3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- V2E (p.Val2Glu), Ensembl rs1557711941, REVEL 0.35, MetaLR 0.36
- V2L (p.Val2Leu), gnomAD 1-53196947-G-T, REVEL 0.20, CADD 8.50
- V2M (p.Val2Met), gnomAD 1-53196947-G-A, REVEL 0.20, CADD 13.10
- V2A (p.Val2Ala), gnomAD 1-53196948-T-C, REVEL 0.24, CADD 19.80
- V2V (p.Val2Val), rs1572378219, gnomAD 1-53196949-G-A, CADD 12.80
- P3L (p.Pro3Leu), ExAC rs749532648, TOPMed rs749532648, gnomAD rs749532648, REVEL 0.30, MetaLR 0.41
- P3S (p.Pro3Ser), rs1645324758, ClinGen CA340388561, ClinVar RCV001889210, TOPMed rs1645324758, REVEL 0.22, MetaLR 0.30, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- P3T (p.Pro3Thr), gnomAD 1-53196950-C-A, REVEL 0.24, CADD 9.14
- P3H (p.Pro3His), gnomAD 1-53196951-C-A, REVEL 0.33, CADD 21.90
- P3P (p.Pro3Pro), rs915522897, gnomAD 1-53196952-C-T, CADD 8.99
- R4L (p.Arg4Leu), TOPMed rs1338278472, gnomAD rs1338278472, REVEL 0.43, MetaLR 0.36
- R4A (p.Arg4Ala), gnomAD 1-53196949-GC-G, CADD 19.80
- R4P (p.Arg4Pro), gnomAD 1-53196952-CCG-C, CADD 25.40
- R4C (p.Arg4Cys), gnomAD 1-53196953-C-T, REVEL 0.33, MetaLR 0.45
- R4S (p.Arg4Ser), gnomAD 1-53196953-C-A, REVEL 0.39, MetaLR 0.31
- R4H (p.Arg4His), gnomAD 1-53196954-G-A, REVEL 0.33, MetaLR 0.48
- R4R (p.Arg4Arg), gnomAD 1-53196955-C-T, CADD 12.60
- L5M (p.Leu5Met), gnomAD 1-53196956-C-A, REVEL 0.27, MetaLR 0.51
- L5L (p.Leu5Leu), gnomAD 1-53196956-C-T, CADD 12.80
- L5P (p.Leu5Pro), gnomAD 1-53196957-T-C, REVEL 0.49, MetaLR 0.52
- L5Q (p.Leu5Gln), gnomAD 1-53196957-T-A, REVEL 0.41, MetaLR 0.51
- L6L (p.Leu6Leu), gnomAD 1-53196959-C-T, CADD 12.40
- L6M (p.Leu6Met), gnomAD 1-53196959-C-A, REVEL 0.26, MetaLR 0.55
- L6P (p.Leu6Pro), gnomAD 1-53196960-T-C, REVEL 0.58, MetaLR 0.57
- L6R (p.Leu6Arg), gnomAD 1-53196960-T-G, REVEL 0.46, MetaLR 0.56
- L7M (p.Leu7Met), gnomAD 1-53196962-C-A, REVEL 0.28, MetaLR 0.39
- L7L (p.Leu7Leu), gnomAD 1-53196962-C-T, CADD 12.00
- L7V (p.Leu7Val), gnomAD 1-53196962-C-G, REVEL 0.22, MetaLR 0.40
- L7P (p.Leu7Pro), gnomAD 1-53196963-T-C, REVEL 0.48, MetaLR 0.39
- R8C (p.Arg8Cys), ExAC rs768829380, TOPMed rs768829380, gnomAD rs768829380, REVEL 0.43, MetaLR 0.49
- R8S (p.Arg8Ser), ExAC rs768829380, TOPMed rs768829380, gnomAD rs768829380, REVEL 0.37, MetaLR 0.39
- R8A (p.Arg8Ala), rs1645324873, gnomAD 1-53196962-C-CT, CADD 25.10
- R8G (p.Arg8Gly), gnomAD 1-53196965-C-G, REVEL 0.36, MetaLR 0.38
- R8H (p.Arg8His), gnomAD 1-53196966-G-A, REVEL 0.27, MetaLR 0.41
- R8L (p.Arg8Leu), gnomAD 1-53196966-G-T, REVEL 0.19, MetaLR 0.31
- R8R (p.Arg8Arg), gnomAD 1-53196967-C-T, CADD 12.90
- A9V (p.Ala9Val), rs1645324918, ClinGen CA340388593, ClinVar RCV001297993, Ensembl rs1645324918, REVEL 0.23, MetaLR 0.37, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- A9T (p.Ala9Thr), gnomAD 1-53196968-G-A, REVEL 0.21, MetaLR 0.39
- A9S (p.Ala9Ser), gnomAD 1-53196968-G-T, REVEL 0.23, MetaLR 0.35
- A9D (p.Ala9Asp), gnomAD 1-53196969-C-A, REVEL 0.28, MetaLR 0.36
- A9A (p.Ala9Ala), gnomAD 1-53196970-C-A, CADD 13.40
- W10* (p.Trp10Ter), rs1374482155, ClinGen CA522907745, ClinVar RCV001386849, ClinVar RCV001780356, CADD 35.00, Pathogenic
- W10C (p.Trp10Cys), rs947016530, TOPMed rs947016530, gnomAD rs947016530, ClinGen CA340388603, REVEL 0.34, MetaLR 0.34, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- W10S (p.Trp10Ser), rs2525557943, ClinGen CA340388600, ClinVar RCV003019729, REVEL 0.29, MetaLR 0.36, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- W10R (p.Trp10Arg), gnomAD 1-53196971-T-C, REVEL 0.28, MetaLR 0.34
- p.Trp10delinsTer, rs1374482155, gnomAD 1-53196971-T-TAGC, CADD 25.90
- W10L (p.Trp10Leu), gnomAD 1-53196972-G-T, REVEL 0.21, MetaLR 0.31
- P11L (p.Pro11Leu), TOPMed rs1208897462, REVEL 0.25, MetaLR 0.35
- P11T (p.Pro11Thr), TOPMed rs1269785736, gnomAD rs1269785736, REVEL 0.18, MetaLR 0.33
- P11S (p.Pro11Ser), gnomAD 1-53196974-C-T, REVEL 0.22, MetaLR 0.27
- P11R (p.Pro11Arg), gnomAD 1-53196975-C-G, REVEL 0.28, MetaLR 0.34
- P11H (p.Pro11His), gnomAD 1-53196975-C-A, REVEL 0.20, MetaLR 0.36
- P11P (p.Pro11Pro), rs1173716908, gnomAD 1-53196976-C-G, CADD 10.00
- R12G (p.Arg12Gly), TOPMed rs1270720547, REVEL 0.40, MetaLR 0.33, Uncertain significance
- R12P (p.Arg12Pro), TOPMed rs1044059386, gnomAD rs1044059386, REVEL 0.52, MetaLR 0.35, Uncertain significance
- R12Q (p.Arg12Gln), rs1044059386, ClinGen CA22626369, ClinVar RCV000558197, TOPMed rs1044059386, REVEL 0.23, MetaLR 0.32, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- R12W (p.Arg12Trp), rs1270720547, ClinGen CA340388611, ClinVar RCV002037126, TOPMed rs1270720547, REVEL 0.23, MetaLR 0.36, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- R12R (p.Arg12Arg), gnomAD 1-53196977-C-A, CADD 9.67
- R12L (p.Arg12Leu), gnomAD 1-53196978-G-T, REVEL 0.29, MetaLR 0.34
- G13D (p.Gly13Asp), TOPMed rs1211611094, gnomAD rs1211611094, REVEL 0.29, MetaLR 0.38
- G13A (p.Gly13Ala), rs786204647, gnomAD 1-53196977-CG-C, CADD 21.90
- G13del (p.Gly13del), rs1553168847, gnomAD 1-53196979-GGGC-G, CADD 10.40
- G13C (p.Gly13Cys), gnomAD 1-53196980-G-T, REVEL 0.18, MetaLR 0.34
- G13V (p.Gly13Val), gnomAD 1-53196981-G-T, REVEL 0.27, MetaLR 0.40
- G13G (p.Gly13Gly), gnomAD 1-53196982-C-T, CADD 9.30
- P14L (p.Pro14Leu), gnomAD rs1440831777, REVEL 0.14, MetaLR 0.29
- P14S (p.Pro14Ser), rs2100254731, ClinGen CA340388620, ClinVar RCV002017384, Ensembl rs2100254731, REVEL 0.16, MetaLR 0.31, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- P14T (p.Pro14Thr), gnomAD 1-53196983-C-A, REVEL 0.12, MetaLR 0.31
- P14P (p.Pro14Pro), rs570576290, gnomAD 1-53196985-C-T, CADD 5.43
- A15V (p.Ala15Val), TOPMed rs1363386701, REVEL 0.26, MetaLR 0.34
- A15R (p.Ala15Arg), gnomAD 1-53196981-GC-G, CADD 19.60
- A15P (p.Ala15Pro), gnomAD 1-53196986-G-C, REVEL 0.34, MetaLR 0.37
- A15S (p.Ala15Ser), gnomAD 1-53196986-G-T, REVEL 0.19, MetaLR 0.35
- A15E (p.Ala15Glu), gnomAD 1-53196987-C-A, REVEL 0.27, MetaLR 0.37
- A15A (p.Ala15Ala), gnomAD 1-53196988-G-A, CADD 2.60
- V16F (p.Val16Phe), rs1469396631, ClinGen CA340388634, ClinVar RCV000796203, gnomAD rs1469396631, REVEL 0.16, MetaLR 0.31, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- V16A (p.Val16Ala), rs2100254713, gnomAD 1-53196979-G-GGGC, CADD 15.80
- V16I (p.Val16Ile), gnomAD 1-53196989-G-A, REVEL 0.16, MetaLR 0.32
- V16G (p.Val16Gly), gnomAD 1-53196990-T-G, REVEL 0.15, MetaLR 0.34
- V16V (p.Val16Val), gnomAD 1-53196991-T-G, CADD 2.57
- G17C (p.Gly17Cys), rs2100254762, ClinGen CA340388639, ClinVar RCV001732833, Ensembl rs2100254762, REVEL 0.28, MetaLR 0.37, Uncertain significance, not specified
- G17S (p.Gly17Ser), gnomAD 1-53196992-G-A, REVEL 0.26, MetaLR 0.33
- G17A (p.Gly17Ala), gnomAD 1-53196993-G-C, REVEL 0.24, MetaLR 0.30
- G17V (p.Gly17Val), gnomAD 1-53196993-G-T, REVEL 0.16, MetaLR 0.33
- G17D (p.Gly17Asp), gnomAD 1-53196993-G-A, REVEL 0.22, MetaLR 0.31
- G17G (p.Gly17Gly), gnomAD 1-53196994-T-C, CADD 11.20
- P18L (p.Pro18Leu), rs1176581459, ClinGen CA340388649, ClinVar RCV001326527, ClinVar RCV002274187, REVEL 0.17, MetaLR 0.25, Uncertain significance, not provided; Encephalopathy, acute, infection-induced, susceptibility to, 4; Ca
- P18T (p.Pro18Thr), gnomAD 1-53196995-C-A, REVEL 0.13, MetaLR 0.31
- P18R (p.Pro18Arg), gnomAD 1-53196996-C-G, REVEL 0.13, MetaLR 0.31
- P18Q (p.Pro18Gln), gnomAD 1-53196996-C-A, REVEL 0.18, MetaLR 0.29
- P18P (p.Pro18Pro), gnomAD 1-53196997-G-A, CADD 7.34
- G19A (p.Gly19Ala), gnomAD rs938409577, REVEL 0.12, MetaLR 0.32, Uncertain significance, Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine
- G19E (p.Gly19Glu), rs938409577, ClinGen CA22626396, ClinVar RCV000803510, gnomAD rs938409577, REVEL 0.14, MetaLR 0.32, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- G19* (p.Gly19Ter), gnomAD 1-53196998-G-T, CADD 34.00
- G19R (p.Gly19Arg), gnomAD 1-53196998-G-A, REVEL 0.14, MetaLR 0.29
- G19V (p.Gly19Val), gnomAD 1-53196999-G-T, REVEL 0.13, MetaLR 0.35
- G19G (p.Gly19Gly), gnomAD 1-53197000-A-G, CADD 11.90
- A20G (p.Ala20Gly), 1000Genomes rs533282672, TOPMed rs533282672, gnomAD rs533282672, REVEL 0.13, MetaLR 0.32, Uncertain significance
- A20S (p.Ala20Ser), gnomAD rs1454666206, REVEL 0.10, MetaLR 0.32
- A20V (p.Ala20Val), rs533282672, ClinGen CA22626401, ClinVar RCV002775420, 1000Genomes rs533282672, REVEL 0.11, MetaLR 0.33, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- A20D (p.Ala20Asp), gnomAD 1-53197002-C-A, REVEL 0.17, MetaLR 0.32
- A20A (p.Ala20Ala), rs2100254803, gnomAD 1-53197003-C-T, CADD 9.51
- P21H (p.Pro21His), rs1399429530, ClinGen CA340388662, ClinVar RCV000671811, ClinVar RCV001855568, REVEL 0.18, MetaLR 0.29, Uncertain significance, Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II
- P21L (p.Pro21Leu), TOPMed rs1399429530, gnomAD rs1399429530, REVEL 0.10, MetaLR 0.30, Uncertain significance
- P21R (p.Pro21Arg), TOPMed rs1399429530, gnomAD rs1399429530, REVEL 0.10, MetaLR 0.31, Uncertain significance
- P21A (p.Pro21Ala), gnomAD 1-53197004-C-G, REVEL 0.16, MetaLR 0.31
- P21S (p.Pro21Ser), gnomAD 1-53197004-C-T, REVEL 0.17, MetaLR 0.30
- P21P (p.Pro21Pro), rs2100254812, gnomAD 1-53197006-C-T, CADD 4.82
- S22C (p.Ser22Cys), rs1645327051, ClinGen CA340388665, ClinVar RCV002875383, AlphaMissense 0.10, MetaLR 0.27, Likely benign, Inborn genetic diseases
- S22G (p.Ser22Gly), Ensembl rs1645327051
- S22I (p.Ser22Ile), rs1057287341, ClinGen CA340388668, ClinVar RCV002907656, TOPMed rs1057287341, REVEL 0.16, MetaLR 0.38, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- S22N (p.Ser22Asn), rs1057287341, ClinGen CA22626403, ClinVar RCV001213145, ClinVar RCV002491653, REVEL 0.16, MetaLR 0.37, Uncertain significance, Inborn genetic diseases; Encephalopathy, acute, infection-induced, susceptibilit
- S22R (p.Ser22Arg), Ensembl rs1645327051, REVEL 0.17, AlphaMissense 0.10
- S22T (p.Ser22Thr), TOPMed rs1057287341, gnomAD rs1057287341, REVEL 0.15, MetaLR 0.37, Uncertain significance
- S22V (p.Ser22Val), gnomAD 1-53197001-GC-G, CADD 15.00
- S22Q (p.Ser22Gln), gnomAD 1-53197001-G-GC, CADD 22.60
- S22S (p.Ser22Ser), rs2100254831, gnomAD 1-53197009-T-C, CADD 11.70
- R23G (p.Arg23Gly), rs1329055231, ClinGen CA340388671, ClinVar RCV001876471, TOPMed rs1329055231, REVEL 0.47, MetaLR 0.37, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- R23L (p.Arg23Leu), Ensembl rs2100254847, REVEL 0.47, MetaLR 0.39
- R23W (p.Arg23Trp), TOPMed rs1329055231, gnomAD rs1329055231, REVEL 0.47, MetaLR 0.35, Uncertain significance, Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine
- R23R (p.Arg23Arg), gnomAD 1-53197010-C-A, CADD 12.70
- R23Q (p.Arg23Gln), gnomAD 1-53197011-G-A, REVEL 0.28, MetaLR 0.34
- P24S (p.Pro24Ser), NCI-TCGA TCGA novel, REVEL 0.20, MetaLR 0.28, Variant assessed as somatic; moderate impact.
- P24T (p.Pro24Thr), gnomAD 1-53197013-C-A, REVEL 0.17, MetaLR 0.32
- P24H (p.Pro24His), gnomAD 1-53197014-C-A, REVEL 0.23, MetaLR 0.38
- P24L (p.Pro24Leu), gnomAD 1-53197014-C-T, REVEL 0.15, MetaLR 0.37
- P24P (p.Pro24Pro), rs926538202, gnomAD 1-53197015-C-T, CADD 10.80
- L25P (p.Leu25Pro), rs2100254861, ClinGen CA340388686, ClinVar RCV001898095, Ensembl rs2100254861, REVEL 0.27, MetaLR 0.33, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- L25F (p.Leu25Phe), gnomAD 1-53197016-C-T, REVEL 0.23, MetaLR 0.26
- L25I (p.Leu25Ile), gnomAD 1-53197016-C-A, REVEL 0.15, MetaLR 0.31
- L25H (p.Leu25His), gnomAD 1-53197017-T-A, REVEL 0.35, MetaLR 0.33
- L25L (p.Leu25Leu), gnomAD 1-53197018-C-T, CADD 2.40
- S26C (p.Ser26Cys), TOPMed rs1329746613, gnomAD rs1329746613
- S26G (p.Ser26Gly), TOPMed rs1329746613, gnomAD rs1329746613, REVEL 0.20, MetaLR 0.31, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- S26T (p.Ser26Thr), TOPMed rs1645327245
- S26A (p.Ser26Ala), rs1057517493, gnomAD 1-53197017-TC-T, CADD 3.48
- S26R (p.Ser26Arg), gnomAD 1-53197019-A-C, REVEL 0.20, MetaLR 0.31
- S26I (p.Ser26Ile), gnomAD 1-53197020-G-T, REVEL 0.32, MetaLR 0.32
- S26N (p.Ser26Asn), gnomAD 1-53197020-G-A, REVEL 0.17, MetaLR 0.35
- S26S (p.Ser26Ser), gnomAD 1-53197021-C-T, CADD 12.90
- A27V (p.Ala27Val), TOPMed rs1645327264, gnomAD rs1645327264, REVEL 0.18, MetaLR 0.35
- A27S (p.Ala27Ser), gnomAD 1-53197022-G-T, REVEL 0.22, MetaLR 0.29
- A27T (p.Ala27Thr), gnomAD 1-53197022-G-A, REVEL 0.17, MetaLR 0.30
- A27D (p.Ala27Asp), gnomAD 1-53197023-C-A, REVEL 0.41, MetaLR 0.31
- A27A (p.Ala27Ala), gnomAD 1-53197024-C-A, CADD 11.10
- G28C (p.Gly28Cys), gnomAD rs1235656058, REVEL 0.25, MetaLR 0.34
- G28R (p.Gly28Arg), rs1235656058, ClinGen CA340388703, ClinVar RCV002297572, REVEL 0.18, MetaLR 0.30, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- G28D (p.Gly28Asp), gnomAD 1-53197026-G-A, REVEL 0.27, MetaLR 0.33
- G28V (p.Gly28Val), gnomAD 1-53197026-G-T, REVEL 0.17, MetaLR 0.37
- G28G (p.Gly28Gly), rs772541454, gnomAD 1-53197027-C-A, CADD 13.90
- S29A (p.Ser29Ala), rs1342928062, ClinGen CA340388708, ClinVar RCV002018314, ClinVar RCV005025654, REVEL 0.21, MetaLR 0.28, Uncertain significance, Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II
- S29C (p.Ser29Cys), rs1350053065, ClinGen CA340388712, ClinVar RCV002593654, TOPMed rs1350053065, REVEL 0.15, MetaLR 0.33, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- S29F (p.Ser29Phe), TOPMed rs1350053065, gnomAD rs1350053065, REVEL 0.15, MetaLR 0.33, Uncertain significance
- S29P (p.Ser29Pro), TOPMed rs1342928062, gnomAD rs1342928062, REVEL 0.20, MetaLR 0.30, Uncertain significance
- S29Y (p.Ser29Tyr), gnomAD 1-53197029-C-A, REVEL 0.17, MetaLR 0.33
- S29S (p.Ser29Ser), gnomAD 1-53197030-C-T, CADD 13.10
- G30E (p.Gly30Glu), rs1572378353, ClinGen CA340388716, ClinVar RCV001313915, Ensembl rs1572378353, REVEL 0.17, MetaLR 0.27, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- G30R (p.Gly30Arg), rs937940197, ClinGen CA340388714, ClinVar RCV001913293, TOPMed rs937940197, REVEL 0.13, MetaLR 0.28, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- G30V (p.Gly30Val), Ensembl rs1572378353, REVEL 0.20, MetaLR 0.30, Uncertain significance
- G30W (p.Gly30Trp), rs937940197, ClinGen CA340388715, ClinVar RCV001295346, TOPMed rs937940197, REVEL 0.25, MetaLR 0.39, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- G30G (p.Gly30Gly), gnomAD 1-53197033-G-T, CADD 11.10
- P31R (p.Pro31Arg), TOPMed rs1645327501, REVEL 0.23, MetaLR 0.39
- P31S (p.Pro31Ser), rs1216427183, ClinGen CA340388721, ClinVar RCV001096721, TOPMed rs1216427183, REVEL 0.14, MetaLR 0.32, Uncertain significance, Carnitine palmitoyltransferase II deficiency
- P31T (p.Pro31Thr), gnomAD 1-53197034-C-A, REVEL 0.17, MetaLR 0.33
- P31H (p.Pro31His), gnomAD 1-53197035-C-A, REVEL 0.35, MetaLR 0.39
- P31L (p.Pro31Leu), gnomAD 1-53197035-C-T, REVEL 0.19, MetaLR 0.39
- P31P (p.Pro31Pro), gnomAD 1-53197036-C-G, CADD 10.20
- G32D (p.Gly32Asp), gnomAD rs1273931137, REVEL 0.17, MetaLR 0.32
- G32S (p.Gly32Ser), cosmic curated COSV10820, TOPMed rs1645327533, REVEL 0.18, MetaLR 0.29
- G32A (p.Gly32Ala), gnomAD 1-53197030-CG-C, CADD 23.80
- G32C (p.Gly32Cys), gnomAD 1-53197037-G-T, REVEL 0.38, MetaLR 0.38
- G32V (p.Gly32Val), gnomAD 1-53197038-G-T, REVEL 0.14, MetaLR 0.34
- G32G (p.Gly32Gly), gnomAD 1-53197039-C-A, CADD 13.70
- Q33H (p.Gln33His), rs1196469539, ClinGen CA340388738, ClinVar RCV000671810, ClinVar RCV001861808, REVEL 0.15, MetaLR 0.29, Uncertain significance, Carnitine palmitoyl transferase II deficiency, myopathic form; Encephalopathy, a
- Q33R (p.Gln33Arg), TOPMed rs1645327584, gnomAD rs1645327584, REVEL 0.19, MetaLR 0.33
- Q33K (p.Gln33Lys), gnomAD 1-53197040-C-A, REVEL 0.12, MetaLR 0.34
- Q33E (p.Gln33Glu), gnomAD 1-53197040-C-G, REVEL 0.13, MetaLR 0.33
- Q33* (p.Gln33Ter), gnomAD 1-53197040-C-T, CADD 35.00
- Q33L (p.Gln33Leu), gnomAD 1-53197041-A-T, REVEL 0.18, MetaLR 0.33
- Q33Q (p.Gln33Gln), gnomAD 1-53197042-G-A, CADD 13.30
Public CPT2 analysis runs
- CPT2 analysis run — CPT2 (1,052 variants) — completed 2026-08-20