ACAD9 (Q9H845) variants and mutations
ACAD9 (also known as Q9H845) is a human protein-coding gene encoding a complex I assembly factor ACAD9, mitochondrial protein. It supports mitochondrial energy production through long-chain fatty-acid oxidation and also functions as an assembly factor for respiratory-chain complex I. Biallelic pathogenic variants can cause complex I deficiency, cardiomyopathy, exercise intolerance, and other mitochondrial disease manifestations. This analysis covers 967 ACAD9 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes acyl-CoA dehydrogenase 9 deficiency, mitochondrial complex I deficiency, and neurodegenerative disease. Example ACAD9 variants include M1I, M1L, and M1V.
Variant analysis overview
- Gene: ACAD9
- Protein: Q9H845
- UniProt accession: Q9H845
- Organism: Homo sapiens
- Variants analyzed: 967
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 792 unspecified-consequence records; 15 frameshift variants; 65 synonymous variants; 84 missense variants; 1 splice acceptor variant; 2 stop-gained variants; 4 splice-region variants; 1 in-frame deletions; 2 substitution
- Prediction scores: 758 variants have prediction scores (78% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: acyl-CoA dehydrogenase 9 deficiency, mitochondrial complex I deficiency, neurodegenerative disease, hypertrophic cardiomyopathy, preeclampsia, lysosomal storage disease, hereditary disease, type 2 diabetes mellitus, hyperinsulinemic hypoglycemia, familial, 4, glioblastoma, Proptosis, combined immunodeficiency.
Protein structure and variant hotspots
- Protein features: 5 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable ACAD9 variants
Examples include M1I, M1L, M1V, S2G, S2I, S2N, S2R, S2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2107636803, ClinGen CA354429485, ClinVar RCV001993054, MetaLR 0.93, MetaSVM 0.64, Pathogenic, not provided
- M1L (p.Met1Leu), rs773949927, ClinGen CA2600992, ClinVar RCV001974959, ClinVar RCV005023492, MetaLR 0.92, MetaSVM 0.53, Pathogenic/Likely pathogenic, Acyl-CoA dehydrogenase 9 deficiency; not provided
- M1V (p.Met1Val), rs773949927, ClinGen CA353808, ClinVar RCV003556294, MetaLR 0.92, MetaSVM 0.53, Pathogenic/Likely pathogenic, not provided; Acyl-CoA dehydrogenase 9 deficiency
- S2G (p.Ser2Gly), rs2529221146, ClinGen CA354429489, ClinVar RCV002766439, REVEL 0.27, CADD 10.10, Uncertain significance, not provided
- S2I (p.Ser2Ile), rs761385146, ClinGen CA354429491, ClinVar RCV003835514, ExAC rs761385146, REVEL 0.27, CADD 9.04, Uncertain significance, not provided
- S2N (p.Ser2Asn), rs761385146, ClinGen CA2600993, ClinVar RCV003115092, ExAC rs761385146, REVEL 0.20, CADD 1.78, Uncertain significance, not provided
- S2R (p.Ser2Arg), rs766980679, ClinGen CA354429494, ClinVar RCV002850048, Uncertain significance, Inborn genetic diseases
- S2S (p.Ser2Ser), rs766980679, gnomAD 3-128879697-C-T, CADD 5.99
- G3S (p.Gly3Ser), TOPMed rs1935028385
- G3C (p.Gly3Cys), gnomAD 3-128879698-G-T, REVEL 0.37, CADD 7.31
- G3R (p.Gly3Arg), gnomAD 3-128879698-G-C, REVEL 0.33, CADD 5.87
- G3G (p.Gly3Gly), gnomAD 3-128879700-C-T, CADD 5.80
- C4F (p.Cys4Phe), rs863223872, ClinGen CA325072, ClinVar RCV000200488, TOPMed rs863223872, AlphaMissense 0.06, MetaLR 0.79, Likely benign, not specified
- C4C (p.Cys4Cys), rs148386594, gnomAD 3-128879703-C-T, CADD 5.97
- G5W (p.Gly5Trp), TOPMed rs1935028593
- G5R (p.Gly5Arg), gnomAD 3-128879704-G-C, REVEL 0.38, CADD 6.95
- G5E (p.Gly5Glu), gnomAD 3-128879705-G-A, REVEL 0.29, CADD 0.83
- G5G (p.Gly5Gly), rs139710753, gnomAD 3-128879706-G-C, CADD 6.51
- L6F (p.Leu6Phe), gnomAD rs1935028766, REVEL 0.22, CADD 9.24
- L6I (p.Leu6Ile), gnomAD rs1935028766, REVEL 0.23, CADD 8.09
- L6P (p.Leu6Pro), rs879173625, ClinGen CA354429518, ClinVar RCV003026162, AlphaMissense 0.07, MetaLR 0.89, Uncertain significance, not provided
- L6R (p.Leu6Arg), Ensembl rs879173625
- L6L (p.Leu6Leu), gnomAD 3-128879709-C-T, CADD 1.63
- F7L (p.Phe7Leu), TOPMed rs1355671761, gnomAD rs1355671761, REVEL 0.33, CADD 4.00
- F7F (p.Phe7Phe), rs1218432769, gnomAD 3-128879712-C-T, CADD 9.19
- L8Q (p.Leu8Gln), ExAC rs765582380, TOPMed rs765582380, gnomAD rs765582380, REVEL 0.34, CADD 17.80
- L8L (p.Leu8Leu), rs2107636832, gnomAD 3-128879713-C-T, CADD 1.39
- L8R (p.Leu8Arg), rs772312138, gnomAD 3-128879713-CT-C, CADD 19.10
- R9C (p.Arg9Cys), ExAC rs753089360, gnomAD rs753089360, REVEL 0.44, CADD 19.90
- T10I (p.Thr10Ile), rs1278517422, ClinGen CA354429541, ClinVar RCV002615801, gnomAD rs1278517422, REVEL 0.19, CADD 8.47, Uncertain significance, not provided
- T10S (p.Thr10Ser), gnomAD 3-128879720-C-G, REVEL 0.21, CADD 3.49
- T10T (p.Thr10Thr), rs371199008, gnomAD 3-128879721-C-T, CADD 6.49
- T11A (p.Thr11Ala), ExAC rs751819378, gnomAD rs751819378, REVEL 0.24, CADD 4.75, Uncertain significance, Acyl-CoA dehydrogenase 9 deficiency
- T11M (p.Thr11Met), ExAC rs757354007, TOPMed rs757354007, gnomAD rs757354007, REVEL 0.19, CADD 11.00
- T11R (p.Thr11Arg), ExAC rs757354007, TOPMed rs757354007, gnomAD rs757354007, REVEL 0.23, CADD 10.40
- T11T (p.Thr11Thr), rs944789519, gnomAD 3-128879724-G-A, CADD 4.75
- A12T (p.Ala12Thr), Ensembl rs2107636858
- A12V (p.Ala12Val), gnomAD rs1935029602, REVEL 0.27, CADD 8.32
- A12S (p.Ala12Ser), gnomAD 3-128879725-G-T, REVEL 0.17, CADD 7.39
- A13E (p.Ala13Glu), ExAC rs781185581, TOPMed rs781185581, gnomAD rs781185581
- A13V (p.Ala13Val), ExAC rs781185581, TOPMed rs781185581, gnomAD rs781185581, REVEL 0.28, CADD 15.50
- A13S (p.Ala13Ser), gnomAD 3-128879728-G-T, REVEL 0.20, CADD 13.90
- A13T (p.Ala13Thr), gnomAD 3-128879728-G-A, REVEL 0.23, CADD 15.60
- A13A (p.Ala13Ala), gnomAD 3-128879730-G-C, CADD 8.74
- A14V (p.Ala14Val), rs886057954, ClinGen CA10617263, ClinVar RCV000324385, TOPMed rs886057954, REVEL 0.27, CADD 16.00, Uncertain significance, Acyl-CoA dehydrogenase 9 deficiency
- A14G (p.Ala14Gly), rs746312225, gnomAD 3-128879696-G-GCG, CADD 14.10
- R15C (p.Arg15Cys), rs745759890, ClinGen CA2601006, ClinVar RCV001986815, ExAC rs745759890, REVEL 0.58, CADD 23.80, Likely pathogenic, not provided
- R15P (p.Arg15Pro), rs886057955, ClinGen CA10617167, ClinVar RCV000373076, TOPMed rs886057955, REVEL 0.55, CADD 23.30, Uncertain significance, Acyl-CoA dehydrogenase 9 deficiency
- A16T (p.Ala16Thr), ExAC rs769624733, gnomAD rs769624733, REVEL 0.27, CADD 6.65
- A16V (p.Ala16Val), TOPMed rs1935030118
- A16G (p.Ala16Gly), gnomAD 3-128879738-C-G, REVEL 0.21, CADD 8.07
- A16A (p.Ala16Ala), rs1559815802, gnomAD 3-128879739-C-T, CADD 5.50
- C17F (p.Cys17Phe), TOPMed rs900511320, gnomAD rs900511320, REVEL 0.23, CADD 11.60
- C17Y (p.Cys17Tyr), TOPMed rs900511320, gnomAD rs900511320, REVEL 0.28, CADD 10.40
- C17S (p.Cys17Ser), gnomAD 3-128879741-G-C, REVEL 0.28, CADD 9.72
- C17C (p.Cys17Cys), rs1314123126, gnomAD 3-128879742-C-T, CADD 8.57
- C17W (p.Cys17Trp), gnomAD 3-128879742-C-G, REVEL 0.29, CADD 14.60
- R18L (p.Arg18Leu), TOPMed rs1432175650, gnomAD rs1432175650, REVEL 0.49, CADD 14.20
- R18W (p.Arg18Trp), gnomAD 3-128879743-C-T, REVEL 0.42, CADD 16.00
- R18R (p.Arg18Arg), gnomAD 3-128879745-G-C, CADD 5.92
- G19C (p.Gly19Cys), rs1364043818, ClinGen CA354429584, ClinVar RCV003139550, TOPMed rs1364043818, AlphaMissense 0.12, MetaLR 0.77, Uncertain significance, Acyl-CoA dehydrogenase 9 deficiency
- G19D (p.Gly19Asp), ExAC rs779957523, TOPMed rs779957523, gnomAD rs779957523, REVEL 0.30, CADD 5.30, Uncertain significance
- G19S (p.Gly19Ser), NCI-TCGA Cosmic COSV5830, REVEL 0.30, CADD 5.19, Variant assessed as somatic; moderate impact.
- G19V (p.Gly19Val), rs779957523, ClinGen CA2601008, ClinVar RCV003087346, ClinVar RCV004073335, REVEL 0.36, CADD 5.16, Uncertain significance, Inborn genetic diseases; not provided
- G19R (p.Gly19Arg), gnomAD 3-128879746-G-C, REVEL 0.32, CADD 6.10
- G19G (p.Gly19Gly), rs749118654, gnomAD 3-128879748-T-G, CADD 7.92
- L20Q (p.Leu20Gln), ExAC rs768621387, gnomAD rs768621387
- L20V (p.Leu20Val), gnomAD 3-128879749-C-G, REVEL 0.23, CADD 10.20
- V21A (p.Val21Ala), TOPMed rs1164072308, gnomAD rs1164072308, REVEL 0.26, CADD 2.81
- V21M (p.Val21Met), ExAC rs774119156, TOPMed rs774119156, gnomAD rs774119156, REVEL 0.29, CADD 12.50, Uncertain significance, Inborn genetic diseases
- V21G (p.Val21Gly), gnomAD 3-128879752-GT-G, CADD 16.50
- V21V (p.Val21Val), gnomAD 3-128879754-G-A, CADD 7.20
- V22D (p.Val22Asp), TOPMed rs1405896778, gnomAD rs1405896778, REVEL 0.37, CADD 8.51
- V22L (p.Val22Leu), Ensembl rs1935031096
- V22F (p.Val22Phe), gnomAD 3-128879755-G-T, REVEL 0.25, CADD 13.70
- V22I (p.Val22Ile), gnomAD 3-128879755-G-A, REVEL 0.15, CADD 11.20
- V22A (p.Val22Ala), gnomAD 3-128879756-T-C, REVEL 0.24, CADD 2.30
- V22V (p.Val22Val), rs1415792442, gnomAD 3-128879757-C-G, CADD 3.58
- S23F (p.Ser23Phe), TOPMed rs986218778
- T24A (p.Thr24Ala), rs1303369813, ClinGen CA354429609, ClinVar RCV002569704, ClinVar RCV005782308, AlphaMissense 0.06, MetaLR 0.76, Uncertain significance, Inborn genetic diseases; not provided
- T24I (p.Thr24Ile), gnomAD rs1346317324, REVEL 0.27, CADD 7.88
- T24P (p.Thr24Pro), gnomAD rs1303369813
- T24S (p.Thr24Ser), gnomAD rs1303369813, REVEL 0.22, AlphaMissense 0.06
- T24T (p.Thr24Thr), gnomAD 3-128879763-C-A, CADD 1.24
- A25T (p.Ala25Thr), rs771599560, ClinGen CA2601013, ClinVar RCV001925016, ClinVar RCV003247120, REVEL 0.26, CADD 8.40, Uncertain significance, not provided; Inborn genetic diseases
- A25V (p.Ala25Val), TOPMed rs1487093007
- A25A (p.Ala25Ala), rs564435799, gnomAD 3-128879766-G-T, CADD 6.70
- N26K (p.Asn26Lys), TOPMed rs1264109871, gnomAD rs1264109871, REVEL 0.21, CADD 0.45, Likely benign
- N26S (p.Asn26Ser), rs1203559610, ClinGen CA354429622, ClinVar RCV002620144, ClinVar RCV002620145, REVEL 0.18, CADD 2.96, Conflicting interpretations, not provided; Inborn genetic diseases
- N26N (p.Asn26Asn), rs1264109871, gnomAD 3-128879769-C-T, CADD 1.92
- R27Q (p.Arg27Gln), gnomAD rs1448589558, REVEL 0.19, CADD 14.60
- R27W (p.Arg27Trp), rs201209930, ClinGen CA82514210, ClinVar RCV003041585, ClinVar RCV005608831, REVEL 0.37, CADD 17.40, Uncertain significance, not provided
- R27R (p.Arg27Arg), rs201209930, gnomAD 3-128879770-C-A, CADD 9.24
- R27P (p.Arg27Pro), gnomAD 3-128879771-G-C, REVEL 0.54, MetaLR 0.77
- R28L (p.Arg28Leu), NCI-TCGA Cosmic COSV1004, Variant assessed as somatic; moderate impact.
- R28R (p.Arg28Arg), gnomAD 3-128879775-G-A, CADD 7.72
- L29P (p.Leu29Pro), ExAC rs760045117, TOPMed rs760045117, gnomAD rs760045117, REVEL 0.34, CADD 5.63, Likely benign, Inborn genetic diseases
- L29L (p.Leu29Leu), gnomAD 3-128879776-C-T, CADD 4.74
- L29V (p.Leu29Val), gnomAD 3-128879776-C-G, REVEL 0.22, MetaLR 0.74
- L30L (p.Leu30Leu), gnomAD 3-128879779-C-T, CADD 5.47
- L30P (p.Leu30Pro), gnomAD 3-128879780-T-C, REVEL 0.53, MetaLR 0.81
- R31C (p.Arg31Cys), rs368630371, ClinGen CA321091, ClinVar RCV000196665, ClinVar RCV001273322, REVEL 0.42, CADD 22.80, Uncertain significance, not provided; Inborn genetic diseases; Acyl-CoA dehydrogenase 9 deficiency
- R31H (p.Arg31His), ExAC rs753248658, TOPMed rs753248658, gnomAD rs753248658, REVEL 0.25, CADD 15.00
- R31L (p.Arg31Leu), ExAC rs753248658, TOPMed rs753248658, gnomAD rs753248658, REVEL 0.33, CADD 18.10
- R31R (p.Arg31Arg), rs763269482, gnomAD 3-128879784-C-T, CADD 10.20
- T32A (p.Thr32Ala), ExAC rs764509056, gnomAD rs764509056
- T32I (p.Thr32Ile), ESP rs372678444, ExAC rs372678444, TOPMed rs372678444, gnomAD rs372678444, REVEL 0.35, CADD 21.20
- T32P (p.Thr32Pro), ExAC rs764509056, gnomAD rs764509056, REVEL 0.50, CADD 21.40
- T32S (p.Thr32Ser), ESP rs372678444, ExAC rs372678444, TOPMed rs372678444, gnomAD rs372678444
- S33K (p.Ser33Lys), gnomAD 3-128879787-C-CA, CADD 21.90
- P34L (p.Pro34Leu), TOPMed rs11542652, gnomAD rs11542652, REVEL 0.24, CADD 17.00
- P34R (p.Pro34Arg), TOPMed rs11542652, gnomAD rs11542652, REVEL 0.26, CADD 13.10
- P34S (p.Pro34Ser), rs376651813, ClinGen CA2601021, ClinVar RCV002654636, ClinVar RCV004072028, REVEL 0.23, CADD 15.30, Uncertain significance, Inborn genetic diseases; not provided
- P34T (p.Pro34Thr), gnomAD 3-128879788-AGCCC, CADD 23.70
- P34P (p.Pro34Pro), rs750501970, gnomAD 3-128879793-G-T, CADD 7.94
- P35R (p.Pro35Arg), TOPMed rs1576325956, gnomAD rs1576325956, REVEL 0.30, CADD 4.18
- P35P (p.Pro35Pro), rs756031841, gnomAD 3-128879796-T-A, CADD 7.82
- V36L (p.Val36Leu), rs780117832, ClinGen CA2601024, ClinVar RCV001151049, ExAC rs780117832, REVEL 0.25, CADD 8.47, Uncertain significance, Acyl-CoA dehydrogenase 9 deficiency
- V36Y (p.Val36Tyr), gnomAD 3-128879795-CT-C, CADD 14.90
- R37* (p.Arg37Ter), rs936842682, ClinGen CA82514269, ClinVar RCV001898277, TOPMed rs936842682, CADD 34.00, Pathogenic
- R37G (p.Arg37Gly), TOPMed rs936842682, gnomAD rs936842682, Pathogenic
- R37R (p.Arg37Arg), gnomAD 3-128879802-A-G, CADD 10.30
- A38S (p.Ala38Ser), ExAC rs749279754, gnomAD rs749279754, REVEL 0.23, CADD 8.80
- A38T (p.Ala38Thr), NCI-TCGA Cosmic COSV5830, Variant assessed as somatic; moderate impact.
- A38V (p.Ala38Val), gnomAD 3-128879804-C-T, REVEL 0.34, MetaLR 0.85
- F39V (p.Phe39Val), gnomAD 3-128879806-T-G, REVEL 0.70, MetaLR 0.94
- F39F (p.Phe39Phe), rs754819333, gnomAD 3-128879808-C-T, CADD 15.50
- A40T (p.Ala40Thr), gnomAD 3-128879809-G-A, REVEL 0.56, MetaLR 0.82
- A40G (p.Ala40Gly), gnomAD 3-128879810-C-G, REVEL 0.46, MetaLR 0.84
- A40D (p.Ala40Asp), gnomAD 3-128893519-C-A, CADD 1.07, SIFT 0.26
- A40A (p.Ala40Ala), gnomAD 3-128893520-T-C, CADD 14.40
- K41E (p.Lys41Glu), gnomAD rs1316475552, REVEL 0.68, CADD 24.40
- K41R (p.Lys41Arg), Ensembl rs1367397763, REVEL 0.53, CADD 21.80
- E42V (p.Glu42Val), gnomAD 3-128879816-A-T, REVEL 0.50, MetaLR 0.86
- F44I (p.Phe44Ile), rs387907041, ClinGen CA129517, ClinVar RCV000023866, UniProt VAR 071892, AlphaMissense 0.79, MetaLR 0.93, Likely pathogenic, Acyl-CoA dehydrogenase 9 deficiency
- F44Y (p.Phe44Tyr), Ensembl rs1935034068, REVEL 0.67, CADD 23.80
- L45L (p.Leu45Leu), gnomAD 3-128879826-A-G, CADD 12.90
- K47Q (p.Lys47Gln), NCI-TCGA TCGA novel, REVEL 0.25, CADD 17.70, Variant assessed as somatic; moderate impact.
- I48S (p.Ile48Ser), gnomAD 3-128879828-GC-G, CADD 24.90
- K49R (p.Lys49Arg), Ensembl rs1935034212
- K49E (p.Lys49Glu), gnomAD 3-128879836-A-G, REVEL 0.29, MetaLR 0.41
- K49N (p.Lys49Asn), gnomAD 3-128879838-G-T, REVEL 0.29, MetaLR 0.65
- K50M (p.Lys50Met), ExAC rs747781057, gnomAD rs747781057, REVEL 0.43, CADD 26.20
- K51E (p.Lys51Glu), ExAC rs761039361, gnomAD rs761039361, REVEL 0.31, CADD 19.60
- K51I (p.Lys51Ile), rs149931573, ClinGen CA320956, ClinVar RCV000196533, ClinVar RCV000259644, REVEL 0.62, CADD 24.00, Uncertain significance, not provided; Acyl-CoA dehydrogenase 9 deficiency
- E52F (p.Glu52Phe), rs762859894, gnomAD 3-128884650-TAGAA, CADD 33.00
- E52K (p.Glu52Lys), gnomAD 3-128884656-G-A, REVEL 0.40, MetaLR 0.84
- E52D (p.Glu52Asp), gnomAD 3-128884658-A-C, REVEL 0.42, MetaLR 0.80
- F54F (p.Phe54Phe), rs2107641227, gnomAD 3-128884664-C-T, CADD 12.10, SIFT 0.28
- P55S (p.Pro55Ser), Ensembl rs1935194154
- P55Q (p.Pro55Gln), gnomAD 3-128884666-C-A, REVEL 0.85, MetaLR 0.94
- P55R (p.Pro55Arg), gnomAD 3-128884666-C-G, REVEL 0.82, MetaLR 0.95
- P55P (p.Pro55Pro), rs377484856, gnomAD 3-128884667-A-G, CADD 6.97, SIFT 0.64
- P57A (p.Pro57Ala), gnomAD rs1277485905, REVEL 0.75, CADD 24.50
- P57L (p.Pro57Leu), rs1486453975, ClinGen CA354430109, ClinVar RCV002036768, TOPMed rs1486453975, REVEL 0.72, CADD 32.00, Uncertain significance, not provided
- P57S (p.Pro57Ser), NCI-TCGA Cosmic COSV5830, Variant assessed as somatic; moderate impact.
- V59F (p.Val59Phe), Ensembl rs1553728611
- V59L (p.Val59Leu), gnomAD 3-128884677-G-C, REVEL 0.37, MetaLR 0.76
- S60N (p.Ser60Asn), Ensembl rs1935194509, REVEL 0.21, CADD 9.09
- S60R (p.Ser60Arg), gnomAD 3-128884680-A-C, REVEL 0.30, MetaLR 0.80
- S60S (p.Ser60Ser), gnomAD 3-128884682-C-T, CADD 8.12, SIFT 0.39
- Q61R (p.Gln61Arg), TOPMed rs1210453224, gnomAD rs1210453224, REVEL 0.27, CADD 18.00
- Q61* (p.Gln61Ter), gnomAD 3-128884683-C-T, CADD 39.00
- Q61Q (p.Gln61Gln), rs1463575671, gnomAD 3-128884685-A-G, CADD 9.87, SIFT 0.21
- D62N (p.Asp62Asn), gnomAD 3-128884686-G-A, REVEL 0.43, MetaLR 0.86
- D62G (p.Asp62Gly), gnomAD 3-128884687-A-G, REVEL 0.42, MetaLR 0.84
- E63* (p.Glu63Ter), rs996004696, ClinGen CA82516353, ClinVar RCV001951053, ClinVar RCV005025524, CADD 40.00, Pathogenic
- N65H (p.Asn65His), gnomAD rs1241152414, REVEL 0.37, CADD 23.40
- N65D (p.Asn65Asp), gnomAD 3-128884695-A-G, REVEL 0.21, MetaLR 0.58
- N65K (p.Asn65Lys), gnomAD 3-128884697-T-A, REVEL 0.28, MetaLR 0.54
- N65N (p.Asn65Asn), rs144978857, gnomAD 3-128884697-T-C, CADD 10.20, SIFT 0.38
- E66K (p.Glu66Lys), gnomAD rs1188629448, REVEL 0.78, CADD 24.80
- I67T (p.Ile67Thr), rs1400553630, ClinGen CA354430224, ClinVar RCV003181355, gnomAD rs1400553630, REVEL 0.70, CADD 24.60, Uncertain significance, Inborn genetic diseases
- I67M (p.Ile67Met), gnomAD 3-128884703-C-G, REVEL 0.37, MetaLR 0.81
- N68K (p.Asn68Lys), Ensembl rs770395658, REVEL 0.37, CADD 14.40
- Q69* (p.Gln69Ter), rs765060373, ClinGen CA2601069, ClinVar RCV001937919, ClinVar RCV003464225, CADD 36.00, Pathogenic
- Q69H (p.Gln69His), gnomAD rs1171854557, REVEL 0.75, CADD 23.20
- Q69R (p.Gln69Arg), rs752716687, ClinGen CA2601070, ClinVar RCV003427345, ExAC rs752716687, REVEL 0.76, CADD 23.50, Uncertain significance, not provided
- F70L (p.Phe70Leu), NCI-TCGA Cosmic COSV5830, ExAC rs758120770, TOPMed rs758120770, REVEL 0.40, CADD 6.86, Likely benign
- F70F (p.Phe70Phe), rs758120770, gnomAD 3-128884712-C-T, CADD 7.30, SIFT 0.83
Public ACAD9 analysis runs
- ACAD9 analysis run — ACAD9 (967 variants) — completed 2026-08-20