ETFDH (Q16134) variants and mutations
ETFDH (also known as Q16134) is a human protein-coding gene encoding an electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial protein. It transfers electrons from electron-transfer flavoprotein to ubiquinone in the inner mitochondrial membrane, linking several dehydrogenases to the respiratory chain. Biallelic deficiency causes multiple acyl-CoA dehydrogenase deficiency, often with a riboflavin-responsive late-onset myopathic form. This analysis covers 1,051 ETFDH variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes multiple acyl-CoA dehydrogenase deficiency, glutaric acidemia IIc, and glutaric aciduria. Example ETFDH variants include M1I, M1R, and M1T.
Variant analysis overview
- Gene: ETFDH
- Protein: Q16134
- UniProt accession: Q16134
- Organism: Homo sapiens
- Variants analyzed: 1051
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 823 unspecified-consequence records; 125 missense variants; 68 synonymous variants; 19 frameshift variants; 5 splice-region variants; 2 stop-gained variants; 3 in-frame deletions; 2 in-frame insertions; 4 substitution
- Prediction scores: 841 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: multiple acyl-CoA dehydrogenase deficiency, glutaric acidemia IIc, glutaric aciduria, hereditary disease, Abnormality of metabolism/homeostasis, multiple acyl-CoA dehydrogenase deficiency, severe neonatal type, multiple acyl-CoA dehydrogenase deficiency, mild type, hypertrophic cardiomyopathy, myopathy, Aganglionic megacolon, distal hereditary motor neuropathy, retinitis pigmentosa.
Protein structure and variant hotspots
- Protein features: 1 domains; 19 binding sites; 5 post-translational modification sites.
- Structural context: 40 variants have structural context.
- 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, ClinGen, MaveDB, LitVar.
Notable ETFDH variants
Examples include M1I, M1R, M1T, L2P, L2M, L2V, L2L, V3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1340862175, ClinGen CA358572986, ClinVar RCV003511612, ClinGen CA358572985, Pathogenic, Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- M1R (p.Met1Arg), rs121964953, ClinGen CA358572983, ClinVar RCV003233000, Uncertain significance, See cases
- M1T (p.Met1Thr), rs121964953, ClinGen CA121815, ClinVar RCV000012806, ClinVar RCV002512993, Pathogenic/Likely pathogenic, Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- L2P (p.Leu2Pro), ExAC rs778020609, gnomAD rs778020609, REVEL 0.13, CADD 12.40
- L2M (p.Leu2Met), gnomAD 4-158672460-C-A, REVEL 0.28, CADD 0.04
- L2V (p.Leu2Val), gnomAD 4-158672460-C-G, REVEL 0.23, CADD 0.04
- L2L (p.Leu2Leu), rs2150300532, gnomAD 4-158672462-G-C, CADD 9.48
- V3L (p.Val3Leu), TOPMed rs1271777116, gnomAD rs1271777116, NCI-TCGA Cosmic COSV5701, cosmic curated COSV57015, REVEL 0.19, CADD 13.40, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- V3M (p.Val3Met), TOPMed rs1271777116, gnomAD rs1271777116
- V3G (p.Val3Gly), gnomAD 4-158672464-T-G, REVEL 0.21, CADD 12.50
- V3A (p.Val3Ala), gnomAD 4-158672464-T-C, REVEL 0.31, CADD 7.13
- V3V (p.Val3Val), gnomAD 4-158672465-G-C, CADD 8.67
- P4R (p.Pro4Arg), Ensembl rs1561233057, REVEL 0.26, CADD 16.90
- P4S (p.Pro4Ser), TOPMed rs1237187624, gnomAD rs1237187624, REVEL 0.28, CADD 18.90
- P4L (p.Pro4Leu), gnomAD 4-158672467-C-T, REVEL 0.23, CADD 16.90
- P4P (p.Pro4Pro), rs373776053, gnomAD 4-158672468-G-A, CADD 4.32
- L5P (p.Leu5Pro), Ensembl rs1773597000, REVEL 0.54, CADD 18.30
- A6P (p.Ala6Pro), ExAC rs770883274, gnomAD rs770883274, REVEL 0.14, CADD 16.70
- A6V (p.Ala6Val), cosmic curated COSV57015, Ensembl rs991994728
- K7N (p.Lys7Asn), TOPMed rs1232501551, gnomAD rs1232501551, REVEL 0.23, CADD 22.60, Uncertain significance, Glutaric acidemia type 2C
- K7R (p.Lys7Arg), ExAC rs780104191, gnomAD rs780104191, REVEL 0.23, CADD 14.70
- K7S (p.Lys7Ser), rs1486672284, gnomAD 4-158672474-CA-C, CADD 31.00
- K7K (p.Lys7Lys), rs1232501551, gnomAD 4-158672477-G-A, CADD 13.80
- L8V (p.Leu8Val), rs796051956, ClinGen CA312517, ClinVar RCV000185886, TOPMed rs796051956, REVEL 0.17, CADD 20.90, Likely benign, not specified
- L8L (p.Leu8Leu), gnomAD 4-158672478-C-T, CADD 12.80
- S9T (p.Ser9Thr), rs1175266968, ClinGen CA358573023, ClinVar RCV001279046, ClinVar RCV004774375, REVEL 0.21, CADD 14.60, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency; not provided
- S9S (p.Ser9Ser), rs746903871, gnomAD 4-158672483-C-T, CADD 14.70
- C10W (p.Cys10Trp), Ensembl rs1773598027, REVEL 0.55, CADD 23.90
- C10F (p.Cys10Phe), gnomAD 4-158672485-G-T, REVEL 0.41, CADD 23.00
- C10Y (p.Cys10Tyr), gnomAD 4-158672485-G-A, REVEL 0.44, CADD 23.00
- C10C (p.Cys10Cys), gnomAD 4-158672486-C-T, CADD 15.00
- L11P (p.Leu11Pro), rs951587618, ClinGen CA108842334, ClinVar RCV003154470, TOPMed rs951587618, REVEL 0.26, CADD 18.30, Uncertain significance, not provided
- L11V (p.Leu11Val), Ensembl rs1773598121, REVEL 0.23, CADD 19.20
- L11L (p.Leu11Leu), rs377132634, gnomAD 4-158672489-G-C, CADD 13.20
- A12P (p.Ala12Pro), rs1172887273, ClinGen CA358573042, ClinVar RCV000699613, ClinVar RCV001577644, REVEL 0.52, CADD 34.00, Pathogenic/Likely pathogenic, not provided; Multiple acyl-CoA dehydrogenase deficiency
- A12A (p.Ala12Ala), rs201254467, gnomAD 4-158680468-A-G, CADD 7.67
- Y13C (p.Tyr13Cys), rs746966542, ClinGen CA312519, ClinVar RCV000185887, ExAC rs746966542, REVEL 0.23, CADD 18.20, Likely benign, not specified
- Y13D (p.Tyr13Asp), NCI-TCGA Cosmic COSV1003, Variant assessed as somatic; moderate impact.
- Y13N (p.Tyr13Asn), ExAC rs778798030, gnomAD rs778798030
- Y13I (p.Tyr13Ile), rs2150304327, gnomAD 4-158680467-CA-C, CADD 17.10
- Y13* (p.Tyr13Ter), gnomAD 4-158680471-T-A, CADD 34.00
- Q14H (p.Gln14His), rs1773824132, ClinGen CA358573261, ClinVar RCV002618350, TOPMed rs1773824132, REVEL 0.23, CADD 17.30, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- Q14K (p.Gln14Lys), gnomAD 4-158680472-C-A, REVEL 0.40, CADD 18.00
- C15* (p.Cys15Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- C15S (p.Cys15Ser), rs768442787, ClinGen CA3122274, ClinVar RCV002588806, ClinVar RCV005552705, REVEL 0.40, CADD 20.30, Uncertain significance, Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- C15Y (p.Cys15Tyr), gnomAD 4-158680476-G-A, REVEL 0.34, CADD 21.70
- F16C (p.Phe16Cys), UniProt VAR 075438
- F16I (p.Phe16Ile), rs1773824354, ClinGen CA358573270, ClinVar RCV002775712, TOPMed rs1773824354, REVEL 0.29, CADD 13.30, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- H17H (p.His17His), gnomAD 4-158680483-T-C, CADD 8.92
- A18V (p.Ala18Val), NCI-TCGA Cosmic COSV5701, Variant assessed as somatic; moderate impact.
- A18C (p.Ala18Cys), rs796051964, gnomAD 4-158680482-A-AT, CADD 27.50
- A18D (p.Ala18Asp), gnomAD 4-158680485-C-A, REVEL 0.45, CADD 20.80
- L19V (p.Leu19Val), gnomAD rs1773824569, REVEL 0.25, CADD 17.40
- L19* (p.Leu19Ter), rs2150304339, gnomAD 4-158680486-CT-C, CADD 24.50
- K20N (p.Lys20Asn), gnomAD 4-158680488-TAA-T, CADD 25.20
- K20K (p.Lys20Lys), gnomAD 4-158680492-A-G, CADD 10.20
- I21F (p.Ile21Phe), rs780991832, ClinGen CA3122275, ClinVar RCV001279047, ExAC rs780991832, REVEL 0.25, CADD 14.10, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- I21L (p.Ile21Leu), gnomAD 4-158680488-TA-T, CADD 24.80
- I21I (p.Ile21Ile), gnomAD 4-158680495-T-A, CADD 9.77
- K22R (p.Lys22Arg), TOPMed rs1580394733, REVEL 0.32, CADD 18.40
- K22N (p.Lys22Asn), gnomAD 4-158680498-G-C, REVEL 0.25, CADD 22.60
- K23E (p.Lys23Glu), TOPMed rs932843866, REVEL 0.33, CADD 21.30
- K23R (p.Lys23Arg), gnomAD 4-158680500-A-G, REVEL 0.28, CADD 16.20
- K23N (p.Lys23Asn), gnomAD 4-158680501-A-T, REVEL 0.21, CADD 20.90
- N24K (p.Asn24Lys), NCI-TCGA TCGA novel, Ensembl rs1773824925, Variant assessed as somatic; high impact.
- Y25C (p.Tyr25Cys), gnomAD rs1258925935, REVEL 0.29, CADD 13.60
- Y25H (p.Tyr25His), gnomAD 4-158680505-T-C, REVEL 0.21, CADD 12.30
- Y25N (p.Tyr25Asn), gnomAD 4-158680505-T-A, REVEL 0.20, CADD 13.50
- Y25Y (p.Tyr25Tyr), rs1773825074, gnomAD 4-158680507-T-C, CADD 4.63
- L26P (p.Leu26Pro), gnomAD rs1468249810, REVEL 0.42, CADD 22.00
- L26L (p.Leu26Leu), gnomAD 4-158680508-C-T, CADD 11.80
- L26I (p.Leu26Ile), gnomAD 4-158680508-C-A, REVEL 0.27, CADD 19.80
- L26Q (p.Leu26Gln), gnomAD 4-158680509-T-A, REVEL 0.66, CADD 20.60
- P27L (p.Pro27Leu), gnomAD rs1349402022, REVEL 0.29, CADD 15.80
- P27S (p.Pro27Ser), rs537038850, ClinGen CA233953, ClinVar RCV000153200, ClinVar RCV000392257, REVEL 0.30, CADD 21.30, Pathogenic/Likely pathogenic, Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- P27T (p.Pro27Thr), gnomAD 4-158680511-C-A, REVEL 0.29, CADD 17.90
- P27H (p.Pro27His), gnomAD 4-158680512-C-A, REVEL 0.29, CADD 14.80
- L28I (p.Leu28Ile), NCI-TCGA Cosmic COSV5701, Variant assessed as somatic; moderate impact.
- L28L (p.Leu28Leu), gnomAD 4-158680514-C-T, CADD 10.80
- C29S (p.Cys29Ser), gnomAD 4-158680518-G-C, REVEL 0.30, CADD 13.50
- A30T (p.Ala30Thr), rs1340326448, ClinGen CA358573367, ClinVar RCV001218979, ClinVar RCV001833899, REVEL 0.24, CADD 7.86, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- A30V (p.Ala30Val), NCI-TCGA Cosmic COSV5701, Variant assessed as somatic; moderate impact.
- A30S (p.Ala30Ser), gnomAD 4-158680520-G-T, REVEL 0.23, CADD 6.97
- A30D (p.Ala30Asp), gnomAD 4-158680521-C-A, REVEL 0.29, CADD 11.10
- A30A (p.Ala30Ala), rs1773825695, gnomAD 4-158680522-T-C, CADD 7.60
- T31A (p.Thr31Ala), rs182144074, ClinGen CA312521, ClinVar RCV000185888, ClinVar RCV000297924, REVEL 0.24, CADD 0.03, Conflicting interpretations, not specified; Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficien
- T31I (p.Thr31Ile), rs11559290, ClinGen CA148156, ClinVar RCV000081080, ClinVar RCV000355141, REVEL 0.35, CADD 14.50, Benign, not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- T31S (p.Thr31Ser), 1000Genomes rs182144074, ExAC rs182144074, TOPMed rs182144074, gnomAD rs182144074, REVEL 0.19, CADD 0.03, Likely benign
- T31del (p.Thr31del), gnomAD 4-158680522-TACA-, CADD 18.60
- T31K (p.Thr31Lys), gnomAD 4-158680524-C-A, REVEL 0.37, CADD 12.80
- T31R (p.Thr31Arg), gnomAD 4-158680524-C-G, REVEL 0.38, CADD 15.30
- R32K (p.Arg32Lys), gnomAD 4-158680527-G-A, REVEL 0.37, CADD 24.30
- R32R (p.Arg32Arg), rs1372466447, gnomAD 4-158680528-A-G, CADD 14.40
- p.Arg32 Trp33insSerArg, gnomAD 4-158680528-A-ATC, CADD 16.70
- W33* (p.Trp33Ter), 1000Genomes rs569257408, CADD 37.00, Pathogenic
- W33R (p.Trp33Arg), gnomAD rs1474124175, REVEL 0.37, CADD 19.40
- S34F (p.Ser34Phe), TOPMed rs1299251345
- S34T (p.Ser34Thr), rs1773826525, ClinGen CA358573396, ClinVar RCV002943844, Ensembl rs1773826525, MutPred 0.35, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- S34Y (p.Ser34Tyr), gnomAD 4-158680533-C-A, REVEL 0.49, CADD 18.40
- S35* (p.Ser35Ter), rs2479076127, ClinGen CA358573406, ClinVar RCV003476378, CADD 36.00, Likely pathogenic
- S35P (p.Ser35Pro), gnomAD rs1423884513, REVEL 0.68, CADD 22.70, Likely pathogenic, Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- T36N (p.Thr36Asn), gnomAD 4-158680539-C-A, REVEL 0.34, CADD 14.30
- T36T (p.Thr36Thr), rs140731939, gnomAD 4-158680540-T-G, CADD 8.33
- S37T (p.Ser37Thr), gnomAD rs1773826833, REVEL 0.42, CADD 17.50
- S37A (p.Ser37Ala), gnomAD 4-158680541-T-G, REVEL 0.37, CADD 16.50
- T38A (p.Thr38Ala), Ensembl rs2150304376, REVEL 0.25, CADD 0.14
- T38N (p.Thr38Asn), TOPMed rs1773826904, REVEL 0.32, CADD 0.01
- T38I (p.Thr38Ile), gnomAD 4-158680545-C-T, REVEL 0.27, CADD 0.06
- V39M (p.Val39Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V39V (p.Val39Val), rs2150304380, gnomAD 4-158680549-G-A, CADD 4.32
- P40S (p.Pro40Ser), gnomAD rs1323489286
- P40T (p.Pro40Thr), gnomAD 4-158680550-C-A, REVEL 0.71, CADD 24.00
- P40L (p.Pro40Leu), gnomAD 4-158680551-C-T, REVEL 0.83, CADD 23.80
- p.Pro40 Arg41insIleIleLysLys, gnomAD 4-158680552-T-TAT, CADD 17.40
- R41* (p.Arg41Ter), rs773668457, ClinGen CA3122278, ClinVar RCV000699705, ClinVar RCV001814220, CADD 36.00, Pathogenic
- R41G (p.Arg41Gly), ExAC rs773668457, TOPMed rs773668457, gnomAD rs773668457, Pathogenic
- R41Q (p.Arg41Gln), rs150105001, ClinGen CA3122279, ClinVar RCV002210294, ClinVar RCV002261450, REVEL 0.30, CADD 18.40, Conflicting interpretations, not provided; Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disease
- R41S (p.Arg41Ser), gnomAD 4-158680551-C-CG, CADD 27.90
- R41R (p.Arg41Arg), gnomAD 4-158680553-C-A, CADD 12.30
- R41P (p.Arg41Pro), gnomAD 4-158680554-G-C, REVEL 0.62, CADD 22.20
- I42L (p.Ile42Leu), ExAC rs199546824, gnomAD rs199546824, REVEL 0.51, CADD 21.90
- I42T (p.Ile42Thr), rs1773827794, ClinGen CA358573464, ClinVar RCV003086052, TOPMed rs1773827794, REVEL 0.84, CADD 25.70, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- I42V (p.Ile42Val), ExAC rs199546824, gnomAD rs199546824
- T43I (p.Thr43Ile), TOPMed rs774060297, gnomAD rs774060297, REVEL 0.81, CADD 25.80
- T43A (p.Thr43Ala), gnomAD 4-158680559-A-G, REVEL 0.85, CADD 23.90
- T43N (p.Thr43Asn), gnomAD 4-158680560-C-A, REVEL 0.76, CADD 25.10
- T43T (p.Thr43Thr), gnomAD 4-158680561-T-C, CADD 8.68
- T44A (p.Thr44Ala), gnomAD 4-158680562-A-G, REVEL 0.72, CADD 23.30
- T44T (p.Thr44Thr), gnomAD 4-158680564-C-T, CADD 9.26
- H45Y (p.His45Tyr), ExAC rs776108657, gnomAD rs776108657, REVEL 0.79, CADD 24.60
- H45R (p.His45Arg), gnomAD 4-158680566-A-G, REVEL 0.86, CADD 25.20
- Y46H (p.Tyr46His), TOPMed rs1368337817
- Y46Y (p.Tyr46Tyr), rs761186585, gnomAD 4-158680570-T-C, CADD 2.52
- T47A (p.Thr47Ala), rs924962456, ClinGen CA108847641, ClinVar RCV001934241, TOPMed rs924962456, REVEL 0.46, CADD 21.40, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- T47P (p.Thr47Pro), TOPMed rs924962456, gnomAD rs924962456, REVEL 0.74, CADD 24.70, Uncertain significance
- T47N (p.Thr47Asn), gnomAD 4-158680572-C-A, REVEL 0.40, CADD 19.60
- T47S (p.Thr47Ser), gnomAD 4-158680572-C-G, REVEL 0.35, CADD 17.50
- I48L (p.Ile48Leu), 1000Genomes rs201823591, ExAC rs201823591, TOPMed rs201823591, gnomAD rs201823591, REVEL 0.18, CADD 0.86, Uncertain significance
- I48V (p.Ile48Val), rs201823591, ClinGen CA3122283, ClinVar RCV000392282, 1000Genomes rs201823591, REVEL 0.22, CADD 0.03, Conflicting interpretations, Multiple acyl-CoA dehydrogenase deficiency
- Y49C (p.Tyr49Cys), UniProt VAR 075439, Uncertain significance, in GA2C
- Y49H (p.Tyr49His), gnomAD 4-158680577-T-C, REVEL 0.26, CADD 14.70
- P50H (p.Pro50His), Ensembl rs1209932505
- P50S (p.Pro50Ser), rs937646249, ClinGen CA108847657, ClinVar RCV001279048, TOPMed rs937646249, REVEL 0.38, CADD 21.20, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- R51L (p.Arg51Leu), rs534388496, ClinGen CA358573535, ClinVar RCV001963736, 1000Genomes rs534388496, REVEL 0.83, CADD 28.80, Likely pathogenic, Multiple acyl-CoA dehydrogenase deficiency
- R51P (p.Arg51Pro), rs534388496, ClinGen CA358573534, ClinVar RCV001980762, 1000Genomes rs534388496, MutPred 0.30, Likely pathogenic, Multiple acyl-CoA dehydrogenase deficiency
- R51Q (p.Arg51Gln), rs534388496, ClinGen CA3122286, ClinVar RCV001319011, ClinVar RCV001836301, REVEL 0.72, CADD 26.10, Conflicting interpretations, not provided; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia type
- R51W (p.Arg51Trp), rs187248590, ClinGen CA3122285, ClinVar RCV002028365, 1000Genomes rs187248590, REVEL 0.78, CADD 24.30, Pathogenic, Multiple acyl-CoA dehydrogenase deficiency
- D52N (p.Asp52Asn), rs2150304401, ClinGen CA358573539, ClinVar RCV001991735, Ensembl rs2150304401, MutPred 0.32, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- D52V (p.Asp52Val), rs2479076325, ClinGen CA358573544, ClinVar RCV004527036, Uncertain significance, not specified
- K53* (p.Lys53Ter), rs878853006, ClinGen CA10581271, ClinVar RCV000224742, ClinVar RCV003624410, CADD 32.00, Pathogenic
- K53M (p.Lys53Met), ExAC rs750425050, gnomAD rs750425050
- K53R (p.Lys53Arg), rs1275308540, gnomAD 4-158680588-TA-T, CADD 24.70
- K53K (p.Lys53Lys), rs1773829069, gnomAD 4-158680591-G-A, CADD 7.75
- D54E (p.Asp54Glu), TOPMed rs1773829152, REVEL 0.73, CADD 23.40
- D54Y (p.Asp54Tyr), gnomAD 4-158680592-G-T, REVEL 0.84, CADD 32.00
- K55R (p.Lys55Arg), rs1773829244, ClinGen CA358573568, ClinVar RCV002805939, Ensembl rs1773829244, MutPred 0.30, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- K55K (p.Lys55Lys), rs1210255898, gnomAD 4-158680597-G-A, CADD 5.93
- R56I (p.Arg56Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R56S (p.Arg56Ser), Ensembl rs917824297, REVEL 0.77, CADD 23.70
- R56G (p.Arg56Gly), gnomAD 4-158680598-A-G, REVEL 0.73, CADD 22.50
- R56K (p.Arg56Lys), gnomAD 4-158680599-G-A, REVEL 0.69, CADD 25.00
- W57* (p.Trp57Ter), rs1232214003, ClinGen CA358573595, ClinVar RCV003476393, TOPMed rs1232214003, CADD 38.00, Likely pathogenic
- W57C (p.Trp57Cys), TOPMed rs949249162, gnomAD rs949249162, REVEL 0.84, CADD 30.00, Pathogenic
- W57R (p.Trp57Arg), rs1773829495, ClinGen CA358573592, ClinVar RCV002006312, TOPMed rs1773829495, REVEL 0.86, CADD 29.50, Likely pathogenic, Multiple acyl-CoA dehydrogenase deficiency
- E58* (p.Glu58Ter), rs1473188524, ClinGen CA358573610, ClinVar RCV002830247, Pathogenic
- E58K (p.Glu58Lys), TOPMed rs1473188524, gnomAD rs1473188524, REVEL 0.79, CADD 21.30
- E58G (p.Glu58Gly), gnomAD 4-158680605-A-G, REVEL 0.61, CADD 24.60
- G59E (p.Gly59Glu), gnomAD rs1773876575, REVEL 0.65, CADD 24.10
- G59R (p.Gly59Arg), ExAC rs758453563, REVEL 0.62, CADD 26.80
- V60M (p.Val60Met), TOPMed rs1773876658, REVEL 0.40, CADD 21.80
- V60L (p.Val60Leu), gnomAD 4-158682197-G-C, REVEL 0.38, CADD 20.30
- N61N (p.Asn61Asn), rs2150305147, gnomAD 4-158682202-C-T, CADD 9.96
- N61K (p.Asn61Lys), gnomAD 4-158682202-C-A, REVEL 0.33, CADD 18.50
- M62I (p.Met62Ile), rs1185220863, ClinGen CA358573775, ClinVar RCV000497835, ClinVar RCV001829416, MutPred 0.41, Uncertain significance, not provided
- E63G (p.Glu63Gly), gnomAD 4-158682207-A-G, REVEL 0.71, CADD 25.50
- E63E (p.Glu63Glu), gnomAD 4-158682208-A-G, CADD 10.60
- R64T (p.Arg64Thr), rs2479080051, ClinGen CA358573799, ClinVar RCV003340802, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- R64W (p.Arg64Trp), gnomAD 4-158682209-A-T, REVEL 0.90, CADD 26.40
- F65C (p.Phe65Cys), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10031, Variant assessed as somatic; moderate impact.
- F65L (p.Phe65Leu), Ensembl rs1773876864
Public ETFDH analysis runs
- ETFDH analysis run — ETFDH (1,051 variants) — completed 2026-08-20