ETFA (P13804) variants and mutations
ETFA (also known as P13804) is a human protein-coding gene encoding an electron transfer flavoprotein subunit alpha, mitochondrial protein. A subunit of mitochondrial electron-transfer flavoprotein, which carries electrons from fatty-acid and amino-acid breakdown enzymes to the respiratory chain through ETFDH. Pathogenic variants can cause multiple acyl-CoA dehydrogenase deficiency. This analysis covers 453 ETFA variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes multiple acyl-CoA dehydrogenase deficiency, glutaric aciduria, and hereditary disease. Example ETFA variants include M1T, R3*, and R3G.
Variant analysis overview
- Gene: ETFA
- Protein: P13804
- UniProt accession: P13804
- Organism: Homo sapiens
- Variants analyzed: 453
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 352 unspecified-consequence records; 1 stop lost; 1 stop retained variant; 8 frameshift variants; 32 synonymous variants; 75 missense variants; 4 stop-gained variants; 6 splice-region variants; 1 in-frame deletions; 1 substitution
- Prediction scores: 443 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: multiple acyl-CoA dehydrogenase deficiency, glutaric aciduria, hereditary disease, multiple acyl-CoA dehydrogenase deficiency, mild type, multiple acyl-CoA dehydrogenase deficiency, severe neonatal type, glutaric acidemia type 3, Meniere disease, central nervous system cancer, obstructive sleep apnea syndrome, Lumbar hyperlordosis, glioma, neurodegenerative disease.
Protein structure and variant hotspots
- Protein features: 16 binding sites; 24 post-translational modification sites.
- PTM context: 11 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, MaveDB, LitVar.
Diseases linked to ETFA
Notable ETFA variants
Examples include M1T, R3*, R3G, R3P, A4E, A4V, A5V, P7L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs727503918, ClinGen CA295613, ClinVar RCV000153198, ClinVar RCV000324694, ESM-1b 1.00, AlphaMissense 0.39, Conflicting interpretations, Glutaric acidemia type 2A; ETFA-related disorders; not provided
- R3* (p.Arg3Ter), rs1475984278, ClinGen CA393519620, ClinVar RCV000985194, gnomAD rs1475984278, CADD 39.00, Likely pathogenic
- R3G (p.Arg3Gly), gnomAD rs1475984278, REVEL 0.51, ESM-1b 0.78, Likely pathogenic
- R3P (p.Arg3Pro), rs2141564581, ClinGen CA393519616, ClinVar RCV001991598, Ensembl rs2141564581, REVEL 0.56, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- A4E (p.Ala4Glu), ExAC rs761552468, TOPMed rs761552468, gnomAD rs761552468, REVEL 0.31, ESM-1b 1.00, Uncertain significance, not provided
- A4V (p.Ala4Val), rs761552468, ClinGen CA7673899, ClinVar RCV001912328, ExAC rs761552468, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- A5V (p.Ala5Val), 1000Genomes rs575416593, ExAC rs575416593, TOPMed rs575416593, gnomAD rs575416593, REVEL 0.29, ESM-1b 0.00
- P7L (p.Pro7Leu), rs557160401, ClinGen CA312481, cosmic curated COSV10803, ClinVar RCV000702647, REVEL 0.15, ESM-1b 0.00, Conflicting interpretations, not provided; Multiple acyl-CoA dehydrogenase deficiency
- Q9H (p.Gln9His), gnomAD rs1271666245, REVEL 0.28, ESM-1b 0.00
- Q9R (p.Gln9Arg), rs1165650090, ClinGen CA393519553, ClinVar RCV002265434, ClinVar RCV004047441, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- R11Q (p.Arg11Gln), rs1235326434, ClinGen CA393519527, ClinVar RCV003066888, TOPMed rs1235326434, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- R12Q (p.Arg12Gln), TOPMed rs2039996059, REVEL 0.22, ESM-1b 0.00
- A13T (p.Ala13Thr), rs769838321, ClinGen CA7673896, ClinVar RCV000513143, ExAC rs769838321, REVEL 0.20, ESM-1b 0.00, Uncertain significance, not provided
- A14D (p.Ala14Asp), gnomAD rs2039811433, REVEL 0.10, ESM-1b 1.00
- S15* (p.Ser15Ter), rs1047426224, ClinGen CA273700384, NCI-TCGA Cosmic COSV5121, CADD 35.00, Pathogenic
- R18* (p.Arg18Ter), rs754202690, ClinGen CA7673866, ClinVar RCV000824641, ClinVar RCV001564261, CADD 36.00, Pathogenic
- R18G (p.Arg18Gly), ExAC rs754202690, gnomAD rs754202690, REVEL 0.77, ESM-1b 1.00, Pathogenic
- R18Q (p.Arg18Gln), rs766942384, ClinGen CA7673865, NCI-TCGA Cosmic COSV5121, ClinVar RCV002610473, REVEL 0.40, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- Q20H (p.Gln20His), TOPMed rs13380190, gnomAD rs13380190, REVEL 0.20, ESM-1b 0.00
- S21R (p.Ser21Arg), rs1596224387, ClinGen CA393518031, ClinVar RCV000824188, Ensembl rs1596224387, ESM-1b 0.48, AlphaMissense 0.75, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- V24E (p.Val24Glu), TOPMed rs979879737, REVEL 0.97, ESM-1b 1.00
- I25T (p.Ile25Thr), gnomAD rs1455092287, REVEL 0.89, ESM-1b 1.00
- A26V (p.Ala26Val), rs1389901296, ClinGen CA393518004, ClinVar RCV002048833, TOPMed rs1389901296, REVEL 0.46, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- E27D (p.Glu27Asp), rs772068605, ClinGen CA393517995, ClinVar RCV000809428, ExAC rs772068605, REVEL 0.70, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- E27K (p.Glu27Lys), rs2141543849, ClinGen CA393518001, ClinVar RCV001991552, Ensembl rs2141543849, ESM-1b 1.00, AlphaMissense 0.92, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- H28P (p.His28Pro), Ensembl rs2039810953, REVEL 0.96, ESM-1b 1.00
- N30D (p.Asn30Asp), rs2039810890, ClinGen CA393517978, ClinVar RCV001978524, Ensembl rs2039810890, REVEL 0.28, ESM-1b 0.76, Uncertain significance, not provided; Multiple acyl-CoA dehydrogenase deficiency
- N30H (p.Asn30His), Ensembl rs2039810890, REVEL 0.52, ESM-1b 1.00, Uncertain significance
- N30S (p.Asn30Ser), ESP rs377156231, ExAC rs377156231, gnomAD rs377156231, REVEL 0.38, ESM-1b 0.62
- S32C (p.Ser32Cys), ExAC rs774383988, TOPMed rs774383988, gnomAD rs774383988, REVEL 0.34, ESM-1b 1.00
- S32F (p.Ser32Phe), ExAC rs774383988, TOPMed rs774383988, gnomAD rs774383988, REVEL 0.35, ESM-1b 1.00
- A34T (p.Ala34Thr), rs1282580037, ClinGen CA393517954, ClinVar RCV003038278, gnomAD rs1282580037, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- A34V (p.Ala34Val), gnomAD rs2039810717, REVEL 0.26, ESM-1b 0.55
- P35H (p.Pro35His), TOPMed rs1348530722, gnomAD rs1348530722, ESM-1b 1.00, AlphaMissense 0.29
- P35R (p.Pro35Arg), TOPMed rs1348530722, gnomAD rs1348530722, REVEL 0.81, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- P35T (p.Pro35Thr), 1000Genomes rs181281750, ESP rs181281750, ExAC rs181281750, TOPMed rs181281750, REVEL 0.55, ESM-1b 0.84
- I36V (p.Ile36Val), ExAC rs749076377, gnomAD rs749076377, REVEL 0.25, ESM-1b 0.00
- T40A (p.Thr40Ala), NCI-TCGA Cosmic COSV5121, gnomAD rs2039810581, REVEL 0.23, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- I41V (p.Ile41Val), ExAC rs779892899, gnomAD rs779892899, REVEL 0.30, ESM-1b 0.00
- A43T (p.Ala43Thr), gnomAD rs1328047712, REVEL 0.82, ESM-1b 0.87
- R46C (p.Arg46Cys), rs769908660, ClinGen CA7673856, ClinVar RCV003079793, ExAC rs769908660, REVEL 0.33, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- R46H (p.Arg46His), rs865839624, NCI-TCGA Cosmic COSV5121, TOPMed rs865839624, gnomAD rs865839624, REVEL 0.18, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- R46L (p.Arg46Leu), TOPMed rs865839624, gnomAD rs865839624, REVEL 0.27, ESM-1b 1.00, Uncertain significance, Glutaric acidemia type 2A
- G48E (p.Gly48Glu), 1000Genomes rs188554276, ExAC rs188554276, gnomAD rs188554276, ESM-1b 0.81, AlphaMissense 0.42
- G49D (p.Gly49Asp), gnomAD rs2039810378, REVEL 0.56, ESM-1b 0.00
- E50K (p.Glu50Lys), rs780880209, ClinGen CA7673854, ClinVar RCV001997329, ClinVar RCV003348679, REVEL 0.41, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- V51L (p.Val51Leu), TOPMed rs2039810228, REVEL 0.63, ESM-1b 0.31
- C53T (p.Cys53Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L54F (p.Leu54Phe), Ensembl rs2039810079, ESM-1b 1.00, AlphaMissense 0.39
- V55I (p.Val55Ile), rs1035217923, ClinGen CA273700332, ClinVar RCV002019449, TOPMed rs1035217923, REVEL 0.26, ESM-1b 0.09, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- G57A (p.Gly57Ala), rs146299082, ClinGen CA7673853, ClinVar RCV001277763, ClinVar RCV004774373, REVEL 0.94, ESM-1b 1.00, Uncertain significance, not provided; Multiple acyl-CoA dehydrogenase deficiency
- G57V (p.Gly57Val), rs146299082, ClinGen CA393517810, ClinVar RCV003023750, ESM-1b 1.00, AlphaMissense 0.71, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- G57T (p.Gly57Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T58S (p.Thr58Ser), rs1166705959, ClinGen CA393517806, ClinVar RCV001330795, gnomAD rs1166705959, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- C60G (p.Cys60Gly), rs2543035228, ClinGen CA393517793, ClinVar RCV002726560, ESM-1b 0.56, AlphaMissense 0.33, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- C60Y (p.Cys60Tyr), TOPMed rs1282015660, gnomAD rs1282015660, REVEL 0.72, ESM-1b 1.00
- D61G (p.Asp61Gly), Ensembl rs2039809853, ESM-1b 0.98, AlphaMissense 0.16
- D61N (p.Asp61Asn), ExAC rs746507946, gnomAD rs746507946, REVEL 0.02, ESM-1b 0.71
- V63G (p.Val63Gly), gnomAD rs1231262303, REVEL 0.80, ESM-1b 1.00
- V63L (p.Val63Leu), rs2543032637, ClinGen CA393517468, ClinVar RCV003334182, REVEL 0.46, ESM-1b 0.00, Uncertain significance, not provided
- Q65* (p.Gln65Ter), rs1297718024, ClinGen CA393517447, ClinVar RCV003475599, ClinVar RCV006642848, CADD 37.00, Likely pathogenic
- Q65R (p.Gln65Arg), rs865839624, []
- D66G (p.Asp66Gly), rs201888260, ClinGen CA7673835, ClinVar RCV001277762, ClinVar RCV005821952, REVEL 0.33, ESM-1b 0.16, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- C68R (p.Cys68Arg), gnomAD rs1212819351, REVEL 0.43, ESM-1b 0.37
- C68T (p.Cys68Thr), NCI-TCGA Cosmic COSV5121, Variant assessed as somatic; moderate impact.
- K69E (p.Lys69Glu), ExAC rs746570363, REVEL 0.63, ESM-1b 1.00
- V70A (p.Val70Ala), Ensembl rs1225723588, ESM-1b 0.00, AlphaMissense 0.27
- A71V (p.Ala71Val), ExAC rs777327098, REVEL 0.27, ESM-1b 1.00
- G72D (p.Gly72Asp), rs758004001, ClinGen CA312483, cosmic curated COSV51212, ClinVar RCV000185866, REVEL 0.89, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided; Multiple acyl-CoA dehydrogenase deficienc
- I73M (p.Ile73Met), 1000Genomes rs928797006, REVEL 0.51, ESM-1b 1.00
- I73T (p.Ile73Thr), rs2039778846, ClinGen CA393517340, ClinVar RCV001277761, Ensembl rs2039778846, ESM-1b 0.03, AlphaMissense 0.53, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- I73V (p.Ile73Val), ESP rs375061607, ExAC rs375061607, gnomAD rs375061607, ESM-1b 0.00, AlphaMissense 0.07
- A79T (p.Ala79Thr), gnomAD rs1179217074, REVEL 0.76, ESM-1b 1.00
- A79V (p.Ala79Val), gnomAD rs1336846665, REVEL 0.71, ESM-1b 1.00
- Q80* (p.Gln80Ter), rs2543032548, ClinGen CA393517275, ClinVar RCV003475601, Likely pathogenic
- H81P (p.His81Pro), rs972293793, ClinGen CA273699474, ClinVar RCV003140452, TOPMed rs972293793, REVEL 0.70, ESM-1b 1.00, Conflicting interpretations, Multiple acyl-CoA dehydrogenase deficiency
- H81R (p.His81Arg), TOPMed rs972293793, gnomAD rs972293793, REVEL 0.54, ESM-1b 1.00, Uncertain significance
- D82V (p.Asp82Val), rs1439151256, ClinGen CA393517240, ClinVar RCV002620893, gnomAD rs1439151256, REVEL 0.71, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- V83M (p.Val83Met), gnomAD rs1397216062, ESM-1b 0.36, AlphaMissense 0.15
- Y84H (p.Tyr84His), TOPMed rs962437048, ESM-1b 0.74, AlphaMissense 0.67
- Y84N (p.Tyr84Asn), TOPMed rs962437048, ESM-1b 1.00, AlphaMissense 0.73
- G86R (p.Gly86Arg), ESP rs372473532, ExAC rs372473532, TOPMed rs372473532, gnomAD rs372473532, REVEL 0.78, ESM-1b 0.63
- G86T (p.Gly86Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L88P (p.Leu88Pro), rs1400343293, ClinGen CA393517167, ClinVar RCV001931176, ClinVar RCV005331022, REVEL 0.94, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- P89S (p.Pro89Ser), rs2039778041, ClinGen CA393517163, ClinVar RCV001313856, Ensembl rs2039778041, ESM-1b 0.27, AlphaMissense 0.33, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- E91Q (p.Glu91Gln), gnomAD rs2039776083, REVEL 0.54, ESM-1b 0.00
- T93K (p.Thr93Lys), ESP rs367650430, ExAC rs367650430, TOPMed rs367650430, gnomAD rs367650430, ESM-1b 1.00, AlphaMissense 0.88
- I96T (p.Ile96Thr), ExAC rs758555036, TOPMed rs758555036, gnomAD rs758555036, REVEL 0.84, ESM-1b 1.00
- A98E (p.Ala98Glu), Ensembl rs1596222858, ESM-1b 0.00, AlphaMissense 0.16
- T99A (p.Thr99Ala), rs1189282229, ClinGen CA393517023, NCI-TCGA Cosmic COSV5121, cosmic curated COSV51211, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- Q100E (p.Gln100Glu), ExAC rs752795330, gnomAD rs752795330, REVEL 0.66, ESM-1b 1.00
- Q100H (p.Gln100His), rs948361766, ClinGen CA273699430, ClinVar RCV001912666, TOPMed rs948361766, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- Q102E (p.Gln102Glu), TOPMed rs1431770017, gnomAD rs1431770017, REVEL 0.24, ESM-1b 0.00
- Q102H (p.Gln102His), gnomAD rs2039775189, REVEL 0.56, ESM-1b 1.00
- Q102R (p.Gln102Arg), TOPMed rs1401520139, gnomAD rs1401520139, REVEL 0.36, ESM-1b 1.00
- F103L (p.Phe103Leu), gnomAD rs2039775151, REVEL 0.46, ESM-1b 1.00
- N104H (p.Asn104His), TOPMed rs1354828653, gnomAD rs1354828653, REVEL 0.43, ESM-1b 1.00
- N104K (p.Asn104Lys), TOPMed rs1432732280, gnomAD rs1432732280, REVEL 0.20, ESM-1b 0.00
- N104S (p.Asn104Ser), TOPMed rs1311174318, gnomAD rs1311174318, REVEL 0.22, ESM-1b 0.00
- Y105C (p.Tyr105Cys), TOPMed rs1176787557, gnomAD rs1176787557, REVEL 0.73, ESM-1b 1.00
- Y105H (p.Tyr105His), TOPMed rs1377162985, gnomAD rs1377162985, REVEL 0.68, ESM-1b 1.00
- I108N (p.Ile108Asn), rs1414148078, ClinGen CA393516830, ClinVar RCV000696645, ClinVar RCV001825367, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- I108T (p.Ile108Thr), rs1414148078, ClinGen CA393516827, ClinVar RCV002791315, TOPMed rs1414148078, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- I108V (p.Ile108Val), rs759821353, ClinGen CA7673799, ClinVar RCV002461822, ClinVar RCV005616407, REVEL 0.32, ESM-1b 0.00, Uncertain significance, not provided
- C109R (p.Cys109Arg), TOPMed rs1477959786, gnomAD rs1477959786, REVEL 0.88, ESM-1b 1.00
- A110G (p.Ala110Gly), NCI-TCGA Cosmic COSV9914, Variant assessed as somatic; moderate impact.
- G111E (p.Gly111Glu), cosmic curated COSV51211, gnomAD rs1486391905, REVEL 0.88, ESM-1b 1.00
- A112S (p.Ala112Ser), rs766127651, ClinGen CA7673795, ClinVar RCV002794825, ClinVar RCV005834317, REVEL 0.45, ESM-1b 0.21, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- A112T (p.Ala112Thr), rs766127651, ClinGen CA393516748, ClinVar RCV002653197, REVEL 0.80, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- A114C (p.Ala114Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F115L (p.Phe115Leu), rs760557143, ClinGen CA393516655, ClinVar RCV002823822, REVEL 0.62, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- G116R (p.Gly116Arg), rs119458971, ClinGen CA115639, cosmic curated COSV10957, ClinVar RCV000002713, REVEL 0.91, ESM-1b 1.00, Likely pathogenic, Glutaric acidemia type 2A; Multiple acyl-CoA dehydrogenase deficiency
- K117E (p.Lys117Glu), ExAC rs771885117, gnomAD rs771885117, REVEL 0.88, ESM-1b 1.00
- K117R (p.Lys117Arg), 1000Genomes rs200928944, ExAC rs200928944, gnomAD rs200928944, REVEL 0.72, ESM-1b 1.00
- L120F (p.Leu120Phe), Ensembl rs1555458796, ESM-1b 0.99, AlphaMissense 0.43
- R122K (p.Arg122Lys), rs773865838, ClinGen CA7673775, cosmic curated COSV10508, ClinVar RCV003475600, REVEL 0.92, ESM-1b 1.00, Likely pathogenic, Glutaric acidemia type 2A; Multiple acyl-CoA dehydrogenase deficiency
- V123I (p.Val123Ile), rs886051489, ClinGen CA10642583, ClinVar RCV000266331, Ensembl rs886051489, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- V123L (p.Val123Leu), Ensembl rs886051489, ESM-1b 0.00, AlphaMissense 0.24, Uncertain significance
- A125P (p.Ala125Pro), TOPMed rs2039718000, ESM-1b 1.00, AlphaMissense 0.98
- A125V (p.Ala125Val), Ensembl rs77780757, ESM-1b 1.00, AlphaMissense 0.71
- L127F (p.Leu127Phe), rs910012804, ClinGen CA273698064, ClinVar RCV001198108, ClinVar RCV006650696, REVEL 0.90, ESM-1b 1.00, Uncertain significance, not provided; Multiple acyl-CoA dehydrogenase deficiency
- A130T (p.Ala130Thr), rs2543025144, ClinGen CA393515126, ClinVar RCV003029545, REVEL 0.56, ESM-1b 0.64, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- P131L (p.Pro131Leu), rs1323414196, ClinGen CA393515062, cosmic curated COSV10876, ClinVar RCV001300516, REVEL 0.88, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- P131S (p.Pro131Ser), ExAC rs775257101, gnomAD rs775257101, REVEL 0.80, ESM-1b 1.00
- I132M (p.Ile132Met), Ensembl rs2141533566, ESM-1b 1.00, AlphaMissense 0.28
- I132S (p.Ile132Ser), gnomAD rs1368500620, REVEL 0.81, ESM-1b 1.00
- D134G (p.Asp134Gly), 1000Genomes rs562001197, ExAC rs562001197, gnomAD rs562001197, REVEL 0.95, ESM-1b 1.00, Uncertain significance, not provided
- D134H (p.Asp134His), ESP rs372537478, TOPMed rs372537478, gnomAD rs372537478, REVEL 0.95, ESM-1b 1.00
- D134N (p.Asp134Asn), ESP rs372537478, TOPMed rs372537478, gnomAD rs372537478, ESM-1b 1.00, AlphaMissense 0.79
- I135M (p.Ile135Met), rs773433459, ClinGen CA393514976, ClinVar RCV002304361, ESM-1b 1.00, AlphaMissense 0.45, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- A137S (p.Ala137Ser), ExAC rs772716576, gnomAD rs772716576, REVEL 0.23, ESM-1b 0.65
- I138M (p.Ile138Met), gnomAD rs1179879689, REVEL 0.83, ESM-1b 1.00
- I138V (p.Ile138Val), Ensembl rs1567216400, REVEL 0.36, ESM-1b 0.00
- K139E (p.Lys139Glu), TOPMed rs2039717465, REVEL 0.41, ESM-1b 0.04, Uncertain significance, Inborn genetic diseases
- K139M (p.Lys139Met), gnomAD rs1468270929, REVEL 0.78, ESM-1b 1.00
- T143S (p.Thr143Ser), ExAC rs779161256, gnomAD rs779161256, REVEL 0.73, ESM-1b 1.00
- F144S (p.Phe144Ser), rs755055339, ClinGen CA7673765, ClinVar RCV001340865, ClinVar RCV001751667, REVEL 0.88, ESM-1b 1.00, Uncertain significance, not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- V145M (p.Val145Met), gnomAD rs1260407620, REVEL 0.70, ESM-1b 1.00, Conflicting interpretations, Inborn genetic diseases; not specified
- I148V (p.Ile148Val), rs199673198, ClinGen CA7673764, ClinVar RCV000224700, ClinVar RCV001081384, REVEL 0.40, ESM-1b 1.00, Conflicting interpretations, not provided; not specified; Multiple acyl-CoA dehydrogenase deficiency
- Y149C (p.Tyr149Cys), gnomAD rs2039717185, REVEL 0.96, ESM-1b 1.00, Uncertain significance, not provided
- A150S (p.Ala150Ser), Ensembl rs930199623, REVEL 0.77, ESM-1b 1.00
- G151E (p.Gly151Glu), TOPMed rs1290718752, gnomAD rs1290718752, REVEL 0.97, ESM-1b 1.00
- A153P (p.Ala153Pro), rs1398343360, ClinGen CA393513923, ClinVar RCV001217994, ClinVar RCV001828734, REVEL 0.87, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- L154P (p.Leu154Pro), rs1286837897, ClinGen CA393513893, cosmic curated COSV51211, ClinVar RCV001897174, REVEL 0.87, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- L154R (p.Leu154Arg), gnomAD rs1286837897, ESM-1b 1.00, AlphaMissense 0.58, Uncertain significance
- L154V (p.Leu154Val), TOPMed rs930548270, gnomAD rs930548270, REVEL 0.25, ESM-1b 1.00, Likely benign, Inborn genetic diseases
- C155* (p.Cys155Ter), rs1239955378, ClinVar RCV004576398, TOPMed rs1239955378, gnomAD rs1239955378, CADD 37.00, Likely pathogenic
- C155G (p.Cys155Gly), Ensembl rs1339982131, ESM-1b 1.00, AlphaMissense 0.37
- T156A (p.Thr156Ala), ExAC rs773628079, TOPMed rs773628079, gnomAD rs773628079, REVEL 0.93, ESM-1b 1.00
- T156I (p.Thr156Ile), rs199597352, ClinGen CA7673748, ClinVar RCV001920158, ClinVar RCV004975804, REVEL 0.87, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- T156P (p.Thr156Pro), ExAC rs773628079, TOPMed rs773628079, gnomAD rs773628079, ESM-1b 1.00, AlphaMissense 0.63
- T156R (p.Thr156Arg), ExAC rs199597352, TOPMed rs199597352, gnomAD rs199597352, REVEL 0.90, ESM-1b 1.00, Uncertain significance
- V157G (p.Val157Gly), rs119458969, ClinGen CA115637, ClinVar RCV000002711, ClinVar RCV002281690, REVEL 0.96, ESM-1b 1.00, Pathogenic/Likely pathogenic, Multiple acyl-CoA dehydrogenase deficiency
- E161D (p.Glu161Asp), rs1331535487, ClinGen CA393513709, ClinVar RCV003225491, REVEL 0.38, ESM-1b 0.00, Uncertain significance, not provided
- E161K (p.Glu161Lys), rs2543023611, ClinGen CA393513728, ClinVar RCV002811916, REVEL 0.72, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- K164E (p.Lys164Glu), Ensembl rs2039705552, ESM-1b 1.00, AlphaMissense 0.83
- V165A (p.Val165Ala), rs749455172, ClinGen CA7673746, ClinVar RCV001733357, ClinVar RCV004571073, REVEL 0.91, ESM-1b 1.00, Conflicting interpretations, not specified; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia typ
- F166L (p.Phe166Leu), gnomAD rs1341792644, REVEL 0.43, ESM-1b 0.00
- V168F (p.Val168Phe), ExAC rs779987487, TOPMed rs779987487, gnomAD rs779987487, REVEL 0.77, ESM-1b 0.63
- V168I (p.Val168Ile), ExAC rs779987487, TOPMed rs779987487, gnomAD rs779987487, ESM-1b 0.00, AlphaMissense 0.09
- R169C (p.Arg169Cys), rs369713466, ClinGen CA7673744, ClinVar RCV001349016, ClinVar RCV001831148, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- R169G (p.Arg169Gly), ESP rs369713466, ExAC rs369713466, TOPMed rs369713466, gnomAD rs369713466, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance
- R169H (p.Arg169His), rs375660532, ClinGen CA7673743, cosmic curated COSV51211, ClinVar RCV001242777, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- G170E (p.Gly170Glu), rs780998008, ClinGen CA7673742, ClinVar RCV000795167, ExAC rs780998008, REVEL 0.89, ESM-1b 1.00, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- T171I (p.Thr171Ile), rs1801591, ClinGen CA285317, cosmic curated COSV51211, ClinVar RCV000078134, REVEL 0.64, ESM-1b 1.00, Benign/Likely benign, not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- D174A (p.Asp174Ala), rs1396125343, ClinGen CA393513464, ClinVar RCV001941259, TOPMed rs1396125343, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Multiple acyl-CoA dehydrogenase deficiency
- D174E (p.Asp174Glu), Ensembl rs2141531632, ESM-1b 0.00, AlphaMissense 0.09
- D174G (p.Asp174Gly), rs1396125343, ClinGen CA393513462, ClinVar RCV002716263, ClinVar RCV002716264, REVEL 0.52, ESM-1b 0.69, Uncertain significance, Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- A176S (p.Ala176Ser), NCI-TCGA TCGA novel, Ensembl rs2039705106, REVEL 0.40, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T178A (p.Thr178Ala), Ensembl rs2039705075, REVEL 0.33, ESM-1b 0.00
- T178R (p.Thr178Arg), rs140169311, ClinGen CA312477, cosmic curated COSV51211, ClinVar RCV000320514, REVEL 0.32, ESM-1b 1.00, Conflicting interpretations, not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- S179R (p.Ser179Arg), Ensembl rs1167865286, REVEL 0.41, ESM-1b 1.00
- G181C (p.Gly181Cys), ESP rs374127169, ExAC rs374127169, TOPMed rs374127169, gnomAD rs374127169, ESM-1b 1.00, AlphaMissense 0.38, Uncertain significance
- G181D (p.Gly181Asp), ExAC rs752263133, gnomAD rs752263133, REVEL 0.51, ESM-1b 0.14
- G181S (p.Gly181Ser), rs374127169, ClinGen CA7673740, ClinVar RCV001277758, ClinVar RCV005550229, REVEL 0.54, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- G181T (p.Gly181Thr), NCI-TCGA Cosmic COSV5121, cosmic curated COSV51211, Variant assessed as somatic; moderate impact.
- A183S (p.Ala183Ser), gnomAD rs1202119578, REVEL 0.46, ESM-1b 0.00
- A183V (p.Ala183Val), ExAC rs764582263, TOPMed rs764582263, gnomAD rs764582263, REVEL 0.42, ESM-1b 0.00
- S184G (p.Ser184Gly), TOPMed rs2039704736, REVEL 0.23, ESM-1b 0.00
- S184T (p.Ser184Thr), Ensembl rs2039704707, ESM-1b 0.00, AlphaMissense 0.07
Public ETFA analysis runs
- ETFA analysis run — ETFA (453 variants) — completed 2026-10-09