ACADM (P11310) variants and mutations
ACADM (also known as P11310) is a human protein-coding gene encoding a medium-chain specific acyl-CoA dehydrogenase, mitochondrial protein. It performs the first oxidation step for medium-chain fatty acids during mitochondrial beta-oxidation, becoming especially important during fasting. Biallelic loss-of-function variants cause MCAD deficiency, with risk of hypoketotic hypoglycemia and sudden metabolic decompensation. This analysis covers 806 ACADM variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes medium chain acyl-CoA dehydrogenase deficiency, hereditary disease, and rhabdomyolysis. Example ACADM variants include M1?, M1I, and M1L.
Variant analysis overview
- Gene: ACADM
- Protein: P11310
- UniProt accession: P11310
- Organism: Homo sapiens
- Variants analyzed: 806
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 705 unspecified-consequence records; 51 missense variants; 9 frameshift variants; 31 synonymous variants; 3 stop-gained variants; 3 splice-region variants; 1 in-frame deletions; 3 substitution
- Prediction scores: 586 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: medium chain acyl-CoA dehydrogenase deficiency, hereditary disease, rhabdomyolysis, short chain acyl-CoA dehydrogenase deficiency, Epileptic spasm, skin disorder, Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, hydrocephalus, nonsyndromic, autosomal recessive 2, heart disorder, nonpapillary renal cell carcinoma, glioblastoma, familial digital arthropathy-brachydactyly.
Protein structure and variant hotspots
- Protein features: 10 binding sites; 14 post-translational modification sites.
- PTM context: 16 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, ClinGen, MaveDB, LitVar.
Notable ACADM variants
Examples include M1?, M1I, M1L, M1R, M1V, A2V, A2T, A2E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV63719
- M1I (p.Met1Ile), rs1553121887, ClinGen CA340805656, ClinVar RCV000671645, ClinVar RCV002510954, MetaLR 0.69, MetaSVM 0.17, Pathogenic/Likely pathogenic, not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- M1L (p.Met1Leu), rs1057516778, ClinGen CA340805650, ClinVar RCV001936170, MetaLR 0.63, MetaSVM -0.04, Pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- M1R (p.Met1Arg), rs1280148041, ClinGen CA340805654, ClinVar RCV003504500, MetaLR 0.72, MetaSVM 0.55, Pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- M1V (p.Met1Val), rs1057516778, ClinGen CA16040771, ClinVar RCV000411404, ClinVar RCV000767337, MetaLR 0.63, MetaSVM -0.04, Likely benign, Medium-chain acyl-coenzyme A dehydrogenase deficiency; Inborn genetic diseases
- A2V (p.Ala2Val), cosmic curated COSV10592, Ensembl rs1647020485, REVEL 0.32, CADD 23.60
- A2T (p.Ala2Thr), gnomAD 1-75724791-G-A, REVEL 0.28, CADD 19.40
- A2E (p.Ala2Glu), gnomAD 1-75724791-GC-G, CADD 23.70
- A2G (p.Ala2Gly), gnomAD 1-75724792-C-G, REVEL 0.34, CADD 23.10
- A2A (p.Ala2Ala), rs752190688, gnomAD 1-75724793-A-C, CADD 10.20
- A3V (p.Ala3Val), ExAC rs758001595, TOPMed rs758001595, gnomAD rs758001595, REVEL 0.31, CADD 23.20
- A3G (p.Ala3Gly), gnomAD 1-75724793-A-AG, CADD 26.70
- A3T (p.Ala3Thr), gnomAD 1-75724794-G-A, REVEL 0.38, CADD 22.30
- A3S (p.Ala3Ser), gnomAD 1-75724794-G-T, REVEL 0.34, CADD 17.40
- A3E (p.Ala3Glu), gnomAD 1-75724795-C-A, REVEL 0.40, CADD 22.60
- A3A (p.Ala3Ala), gnomAD 1-75724796-G-A, CADD 8.15
- G4E (p.Gly4Glu), 1000Genomes rs201646499, ExAC rs201646499, TOPMed rs201646499, gnomAD rs201646499, REVEL 0.20, CADD 9.91, Uncertain significance
- G4R (p.Gly4Arg), rs777389884, ExAC rs777389884, TOPMed rs777389884, gnomAD rs777389884, REVEL 0.22, CADD 12.30, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- G4V (p.Gly4Val), rs201646499, ClinGen CA912890, ClinVar RCV003080189, 1000Genomes rs201646499, REVEL 0.17, CADD 8.43, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- G4W (p.Gly4Trp), cosmic curated COSV10820, REVEL 0.38, CADD 12.90
- G4G (p.Gly4Gly), rs757845443, gnomAD 1-75724799-G-T, CADD 5.02
- F5L (p.Phe5Leu), rs1024056446, ClinGen CA24616982, ClinVar RCV000755769, ClinVar RCV001830649, REVEL 0.24, CADD 11.70, Uncertain significance, not provided
- F5V (p.Phe5Val), Ensembl rs1570843196
- F5S (p.Phe5Ser), gnomAD 1-75724795-CG-C, CADD 18.10
- F5F (p.Phe5Phe), gnomAD 1-75724802-C-T, CADD 5.04
- G6A (p.Gly6Ala), cosmic curated COSV10748, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- G6E (p.Gly6Glu), rs372088389, ClinGen CA912892, ClinVar RCV002815101, ClinVar RCV005782332, REVEL 0.30, CADD 13.30, Likely pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- G6W (p.Gly6Trp), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10089, REVEL 0.29, CADD 14.70, Variant assessed as somatic; moderate impact.
- G6R (p.Gly6Arg), gnomAD 1-75724803-G-A, REVEL 0.30, CADD 8.75
- G6V (p.Gly6Val), gnomAD 1-75724804-G-T, REVEL 0.31, CADD 16.60
- G6G (p.Gly6Gly), gnomAD 1-75724805-G-T, CADD 9.08
- R7* (p.Arg7Ter), rs1455996178, ClinGen CA340805685, cosmic curated COSV10651, ClinVar RCV002222985, CADD 37.00, Likely pathogenic
- R7Q (p.Arg7Gln), NCI-TCGA TCGA novel, REVEL 0.54, CADD 25.10, Uncertain significance, Inborn genetic diseases
- R7R (p.Arg7Arg), gnomAD 1-75724806-C-A, CADD 8.95
- C8* (p.Cys8Ter), rs2100332723, ClinGen CA340805696, ClinVar RCV001914071, Ensembl rs2100332723, CADD 36.00, Pathogenic
- C8R (p.Cys8Arg), ExAC rs746244899, gnomAD rs746244899, REVEL 0.34, CADD 15.70
- C8F (p.Cys8Phe), gnomAD 1-75724810-G-T, REVEL 0.43, CADD 21.40
- C8Y (p.Cys8Tyr), gnomAD 1-75724810-G-A, REVEL 0.44, CADD 20.20
- C8C (p.Cys8Cys), gnomAD 1-75724811-C-T, CADD 13.60
- C9F (p.Cys9Phe), NCI-TCGA Cosmic COSV6372, cosmic curated COSV63720, REVEL 0.46, CADD 21.10, Variant assessed as somatic; moderate impact.
- C9R (p.Cys9Arg), ExAC rs769935756, gnomAD rs769935756, REVEL 0.49, CADD 20.40
- C9Y (p.Cys9Tyr), cosmic curated COSV63720, ExAC rs780284821, gnomAD rs780284821, REVEL 0.39, CADD 19.00
- C9S (p.Cys9Ser), gnomAD 1-75724812-T-A, REVEL 0.40, CADD 18.90
- C9C (p.Cys9Cys), gnomAD 1-75724814-C-T, CADD 16.30
- C9* (p.Cys9Ter), gnomAD 1-75724814-C-A, CADD 36.00
- C9G (p.Cys9Gly), gnomAD 1-75728389-T-G, CADD 20.80
- R10G (p.Arg10Gly), ExAC rs749318140, gnomAD rs749318140, REVEL 0.42, CADD 4.77
- R10W (p.Arg10Trp), gnomAD 1-75724815-A-T, REVEL 0.49, CADD 14.70
- R10K (p.Arg10Lys), gnomAD 1-75724816-G-A, REVEL 0.34, CADD 18.10
- R10M (p.Arg10Met), gnomAD 1-75724816-G-T, REVEL 0.42, CADD 21.70
- R10R (p.Arg10Arg), gnomAD 1-75724817-G-A, CADD 27.50
- V11A (p.Val11Ala), rs2525551634, ClinGen CA340806748, ClinVar RCV002301080, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- V11I (p.Val11Ile), TOPMed rs1418161871, gnomAD rs1418161871, REVEL 0.29, CADD 21.00
- V11F (p.Val11Phe), gnomAD 1-75728401-G-T, REVEL 0.53, CADD 24.50
- V11V (p.Val11Val), rs1557440940, gnomAD 1-75728403-C-T, CADD 15.20
- L12S (p.Leu12Ser), rs756654520, gnomAD 1-75728396-T-C, CADD 16.00
- L12F (p.Leu12Phe), gnomAD 1-75728397-A-C, CADD 10.50
- L12L (p.Leu12Leu), rs562722132, gnomAD 1-75728404-C-T, CADD 12.20
- L12R (p.Leu12Arg), gnomAD 1-75728404-C-CGTT, CADD 27.10
- R13K (p.Arg13Lys), rs1160997519, TOPMed rs1160997519, gnomAD rs1160997519, REVEL 0.43, CADD 22.40, Variant assessed as somatic; moderate impact.
- R13E (p.Arg13Glu), gnomAD 1-75728406-GA-G, CADD 26.60
- R13G (p.Arg13Gly), gnomAD 1-75728407-A-G, REVEL 0.58, CADD 23.10
- S14C (p.Ser14Cys), TOPMed rs1237259422, gnomAD rs1237259422, REVEL 0.61, CADD 26.50
- S14T (p.Ser14Thr), gnomAD 1-75728392-T-A, CADD 15.50
- S14F (p.Ser14Phe), rs1231281560, gnomAD 1-75728393-C-T, CADD 7.61
- S14V (p.Ser14Val), gnomAD 1-75728408-GA-G, CADD 26.20
- S14N (p.Ser14Asn), gnomAD 1-75728411-G-A, REVEL 0.32, CADD 19.40
- I15V (p.Ile15Val), gnomAD 1-75728413-A-G, REVEL 0.32, CADD 12.30
- I15I (p.Ile15Ile), gnomAD 1-75728415-T-C, CADD 9.97
- S16F (p.Ser16Phe), TOPMed rs1647089082
- S16Y (p.Ser16Tyr), TOPMed rs1647089082
- R17C (p.Arg17Cys), rs1389882916, NCI-TCGA Cosmic COSV6372, cosmic curated COSV63720, TOPMed rs1389882916, REVEL 0.37, CADD 23.50, Pathogenic/Likely pathogenic, not specified; not provided; Medium-chain acyl-coenzyme A dehydrogenase deficien
- R17H (p.Arg17His), rs17848070, ClinGen CA912933, cosmic curated COSV63721, ClinVar RCV000211437, REVEL 0.30, CADD 6.95, Conflicting interpretations, Inborn genetic diseases; not provided; Medium-chain acyl-coenzyme A dehydrogenas
- R17P (p.Arg17Pro), ESP rs17848070, ExAC rs17848070, TOPMed rs17848070, gnomAD rs17848070, REVEL 0.64, CADD 13.60, Likely pathogenic
- R17G (p.Arg17Gly), gnomAD 1-75728419-C-G, REVEL 0.42, CADD 19.10
- R17S (p.Arg17Ser), gnomAD 1-75728419-C-A, REVEL 0.43, CADD 21.90
- R17L (p.Arg17Leu), gnomAD 1-75728420-G-T, REVEL 0.38, CADD 9.99
- F18L (p.Phe18Leu), cosmic curated COSV63719, REVEL 0.42, CADD 14.30
- F18F (p.Phe18Phe), rs1284745891, gnomAD 1-75728424-T-C, CADD 7.55
- H19Q (p.His19Gln), ExAC rs762984318, TOPMed rs762984318, gnomAD rs762984318, REVEL 0.27, CADD 3.49, Likely benign
- H19R (p.His19Arg), rs1446893994, ClinGen CA340807036, ClinVar RCV001911024, gnomAD rs1446893994, REVEL 0.25, CADD 6.09, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- H19H (p.His19His), rs762984318, gnomAD 1-75728427-T-C, CADD 3.07
- W20* (p.Trp20Ter), cosmic curated COSV63719, CADD 41.00
- R21G (p.Arg21Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R21S (p.Arg21Ser), cosmic curated COSV63719
- R21R (p.Arg21Arg), rs1358331245, gnomAD 1-75728431-A-C, CADD 8.83
- S22* (p.Ser22Ter), rs1325609596, ClinGen CA340807116, ClinVar RCV002875893, TOPMed rs1325609596, CADD 34.00, Pathogenic
- S22P (p.Ser22Pro), Ensembl rs1647089479
- S22L (p.Ser22Leu), gnomAD 1-75728435-C-T, REVEL 0.37, CADD 18.10
- Q23* (p.Gln23Ter), rs1570851702, ClinGen CA340807126, ClinVar RCV000824291, TOPMed rs1570851702, Pathogenic
- Q23H (p.Gln23His), cosmic curated COSV63719
- Q23L (p.Gln23Leu), gnomAD 1-75728398-C-CTTT, CADD 14.50
- Q23R (p.Gln23Arg), gnomAD 1-75728438-A-G, REVEL 0.51, CADD 16.60
- Q23Q (p.Gln23Gln), rs1460265023, gnomAD 1-75728439-G-A, CADD 3.12
- H24R (p.His24Arg), rs141772163, ClinGen CA912935, ClinVar RCV002471557, ESP rs141772163, REVEL 0.39, CADD 15.10, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- T25I (p.Thr25Ile), TOPMed rs1647089744, REVEL 0.48, CADD 22.10
- T25A (p.Thr25Ala), gnomAD 1-75728443-A-G, REVEL 0.42, CADD 17.30
- T25S (p.Thr25Ser), gnomAD 1-75728443-A-T, REVEL 0.37, CADD 16.40
- T25K (p.Thr25Lys), gnomAD 1-75728444-C-A, REVEL 0.48, CADD 21.70
- T25T (p.Thr25Thr), gnomAD 1-75728445-A-C, CADD 6.64
- K26Q (p.Lys26Gln), cosmic curated COSV63721
- K26T (p.Lys26Thr), rs2100347143, ClinGen CA340807233, ClinVar RCV001934853, Ensembl rs2100347143, REVEL 0.39, CADD 20.20, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- A27S (p.Ala27Ser), NCI-TCGA Cosmic COSV6372, cosmic curated COSV63721, Variant assessed as somatic; moderate impact.
- N28S (p.Asn28Ser), rs778035007, ClinGen CA912937, ClinVar RCV003610788, ClinVar RCV004783098, REVEL 0.17, CADD 0.03, Uncertain significance, not specified; Inborn genetic diseases; Medium-chain acyl-coenzyme A dehydrogena
- N28D (p.Asn28Asp), gnomAD 1-75728452-A-G, REVEL 0.14, CADD 0.29
- R29* (p.Arg29Ter), rs745793409, ClinGen CA912938, NCI-TCGA Cosmic COSV6372, cosmic curated COSV63721, CADD 33.00, Pathogenic
- R29L (p.Arg29Leu), rs769906625, ClinGen CA312169, ClinVar RCV001053658, ExAC rs769906625, REVEL 0.26, CADD 0.01, Pathogenic/Likely pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- R29Q (p.Arg29Gln), rs769906625, NCI-TCGA Cosmic COSV6372, cosmic curated COSV63720, ExAC rs769906625, REVEL 0.34, CADD 0.00, Likely pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- R29G (p.Arg29Gly), gnomAD 1-75728455-C-G, REVEL 0.32, CADD 5.74
- Q30Q (p.Gln30Gln), rs1047139742, gnomAD 1-75728460-A-G, CADD 0.60
- R31C (p.Arg31Cys), rs768452911, ClinGen CA912940, ClinVar RCV003065785, ClinVar RCV003071772, REVEL 0.35, CADD 16.80, Conflicting interpretations, Inborn genetic diseases; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- R31G (p.Arg31Gly), ExAC rs768452911, TOPMed rs768452911, gnomAD rs768452911, REVEL 0.35, CADD 16.70, Pathogenic
- R31H (p.Arg31His), rs529894272, ClinGen CA912941, ClinVar RCV001065937, 1000Genomes rs529894272, REVEL 0.74, CADD 0.86, Pathogenic/Likely pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- E32* (p.Glu32Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E32G (p.Glu32Gly), ExAC rs768154448, gnomAD rs768154448, REVEL 0.39, CADD 22.70
- E32D (p.Glu32Asp), gnomAD 1-75728466-A-C, REVEL 0.49, CADD 19.10
- P33L (p.Pro33Leu), Ensembl rs2100347224
- P33R (p.Pro33Arg), rs2100347224, ClinGen CA340807391, ClinVar RCV003029946, AlphaMissense 0.09, MetaLR 0.56, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- P33T (p.Pro33Thr), gnomAD 1-75728467-C-A, REVEL 0.42, CADD 19.90
- G34R (p.Gly34Arg), TOPMed rs543388735, gnomAD rs543388735, REVEL 0.30, CADD 23.70
- G34V (p.Gly34Val), rs2525552120, ClinGen CA340807413, ClinVar RCV003816415, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- G34E (p.Gly34Glu), gnomAD 1-75728471-G-A, REVEL 0.41, CADD 23.20
- G34G (p.Gly34Gly), rs1256395026, gnomAD 1-75728472-A-G, CADD 21.10
- L35* (p.Leu35Ter), rs1647090485, ClinGen CA340807430, ClinVar RCV001238168, Ensembl rs1647090485, CADD 24.80, Pathogenic
- L35L (p.Leu35Leu), gnomAD 1-75728475-A-G, CADD 7.33
- G36E (p.Gly36Glu), Ensembl rs1647090549
- G36R (p.Gly36Arg), rs774074624, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10089, ExAC rs774074624, REVEL 0.71, CADD 27.90, Variant assessed as somatic; moderate impact.
- G36A (p.Gly36Ala), gnomAD 1-75728477-G-C, REVEL 0.57, CADD 24.10
- F37L (p.Phe37Leu), TOPMed rs1647090587, gnomAD rs1647090587, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- S38N (p.Ser38Asn), TOPMed rs1006082856, gnomAD rs1006082856, REVEL 0.37, CADD 15.30
- S38R (p.Ser38Arg), rs2100347323, ClinGen CA340807485, ClinVar RCV001752416, Ensembl rs2100347323, AlphaMissense 0.53, MetaLR 0.86, Uncertain significance, not provided
- F39L (p.Phe39Leu), TOPMed rs1458972312, gnomAD rs1458972312, REVEL 0.70, CADD 23.20
- F39V (p.Phe39Val), cosmic curated COSV63720
- F39S (p.Phe39Ser), gnomAD 1-75728486-T-C, REVEL 0.85, CADD 32.00
- E40D (p.Glu40Asp), rs370303161, ClinGen CA340809073, ClinVar RCV003042856, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- E40Q (p.Glu40Gln), rs398123071, ClinGen CA220167, ClinVar RCV000077879, TOPMed rs398123071, AlphaMissense 0.14, MetaLR 0.77, Conflicting interpretations, not provided
- E40K (p.Glu40Lys), gnomAD 1-75728488-G-A, REVEL 0.50, CADD 33.00
- E40* (p.Glu40Ter), gnomAD 1-75728488-G-T, CADD 55.00
- E40E (p.Glu40Glu), rs370303161, gnomAD 1-75732645-G-A, CADD 1.52
- F41F (p.Phe41Phe), gnomAD 1-75732648-C-T, CADD 3.30
- T42I (p.Thr42Ile), rs759997176, ClinGen CA912969, ClinVar RCV000366127, ClinVar RCV001313550, REVEL 0.79, CADD 22.40, Uncertain significance, not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- T42S (p.Thr42Ser), rs2525571948, ClinGen CA340809097, ClinVar RCV003181480, REVEL 0.43, CADD 15.10, Uncertain significance, Inborn genetic diseases
- T42N (p.Thr42Asn), gnomAD 1-75732650-C-A, REVEL 0.41, CADD 13.00
- T42T (p.Thr42Thr), rs765625793, gnomAD 1-75732651-C-G, CADD 1.57
- E43G (p.Glu43Gly), ExAC rs764413858, gnomAD rs764413858, REVEL 0.82, CADD 25.20
- E43K (p.Glu43Lys), rs147559466, ClinGen CA220170, cosmic curated COSV10592, ClinVar RCV000077881, REVEL 0.74, CADD 23.90, Conflicting interpretations, Inborn genetic diseases; ACADM-related disorder; not specified
- E43* (p.Glu43Ter), gnomAD 1-75732652-G-T, CADD 38.00
- Q44* (p.Gln44Ter), rs2525572000, ClinGen CA340809132, ClinVar RCV003610327, Pathogenic
- Q44R (p.Gln44Arg), rs751647383, ClinGen CA912973, ClinVar RCV000254953, ClinVar RCV000812228, REVEL 0.71, CADD 24.00, Uncertain significance, not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Q44Q (p.Gln44Gln), rs1647165709, gnomAD 1-75732657-G-A, CADD 7.60
- Q45* (p.Gln45Ter), TOPMed rs1378433976, gnomAD rs1378433976, CADD 41.00
- Q45H (p.Gln45His), rs111347361, ClinGen CA340809161, ClinVar RCV002834268, Likely pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Q45R (p.Gln45Arg), rs757434857, ClinGen CA912974, ClinVar RCV000333494, ClinVar RCV000723521, REVEL 0.96, CADD 27.00, Pathogenic/Likely pathogenic, not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Q45P (p.Gln45Pro), gnomAD 1-75732659-A-C, REVEL 0.95, CADD 27.70
- Q45Q (p.Gln45Gln), rs111347361, gnomAD 1-75732660-G-A, CADD 8.63
- K46E (p.Lys46Glu), Ensembl rs989908970, REVEL 0.65, CADD 23.50
- K46N (p.Lys46Asn), gnomAD 1-75732658-CAGAA-, CADD 32.00
- K46K (p.Lys46Lys), rs781177517, gnomAD 1-75732663-A-G, CADD 12.70
- E47* (p.Glu47Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E47K (p.Glu47Lys), rs2100362559, ClinGen CA340809180, cosmic curated COSV10820, ClinVar RCV001559196, AlphaMissense 0.59, MetaLR 0.98, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- F48C (p.Phe48Cys), NCI-TCGA Cosmic COSV6372, cosmic curated COSV63720, Variant assessed as somatic; moderate impact.
- F48L (p.Phe48Leu), Ensembl rs1557444322, REVEL 0.52, CADD 22.50, Uncertain significance, Inborn genetic diseases
- Q49P (p.Gln49Pro), NCI-TCGA Cosmic COSV6371, cosmic curated COSV63719, Variant assessed as somatic; moderate impact.
- A50S (p.Ala50Ser), Ensembl rs1557444331
- T51I (p.Thr51Ile), gnomAD 1-75732677-C-T, REVEL 0.53, CADD 21.40
- A52S (p.Ala52Ser), gnomAD rs1457255069, REVEL 0.75, CADD 24.90
- A52A (p.Ala52Ala), rs1647166139, gnomAD 1-75732681-T-G, CADD 10.60
- R53C (p.Arg53Cys), rs398123072, ClinGen CA220173, NCI-TCGA Cosmic COSV6372, cosmic curated COSV63720, REVEL 0.92, CADD 26.90, Pathogenic, not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- R53G (p.Arg53Gly), ExAC rs398123072, TOPMed rs398123072, gnomAD rs398123072, REVEL 0.89, CADD 25.10, Likely pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- R53H (p.Arg53His), rs754938068, ClinGen CA912976, ClinVar RCV000211492, ClinVar RCV001753639, REVEL 0.79, CADD 23.50, Conflicting interpretations, not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- K54Q (p.Lys54Gln), rs2525572190, ClinGen CA340809311, ClinVar RCV003609308, REVEL 0.66, CADD 22.90, Uncertain significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- K54E (p.Lys54Glu), gnomAD 1-75732685-A-G, REVEL 0.75, CADD 24.10
- K54T (p.Lys54Thr), gnomAD 1-75732686-A-C, REVEL 0.76, CADD 25.20
- F55I (p.Phe55Ile), cosmic curated COSV63720
- F55L (p.Phe55Leu), gnomAD rs1431180159, REVEL 0.92, CADD 27.80, Pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- F55N (p.Phe55Asn), rs2525572068, ClinGen CA2580063236, ClinVar RCV003121877, Pathogenic
- F55S (p.Phe55Ser), gnomAD rs1197961708, REVEL 0.95, CADD 29.70
- A56D (p.Ala56Asp), gnomAD rs866259718
- A56P (p.Ala56Pro), rs1424560976, ClinGen CA340809346, ClinVar RCV003504501, gnomAD rs1424560976, REVEL 0.93, CADD 27.10, Likely pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency
- A56V (p.Ala56Val), gnomAD rs866259718, Uncertain significance, not specified
Public ACADM analysis runs
- ACADM analysis run — ACADM (806 variants) — completed 2026-08-18