ACADVL (P49748) variants and mutations
ACADVL (also known as P49748) is a human protein-coding gene encoding a very long-chain acyl-CoA dehydrogenase, mitochondrial protein. It catalyzes the first dehydrogenation step in mitochondrial beta-oxidation of long-chain fatty acids, especially during fasting and sustained energy demand. Biallelic loss of function causes very-long-chain acyl-CoA dehydrogenase deficiency, ranging from severe cardiomyopathy to exercise-induced rhabdomyolysis. This analysis covers 1,265 ACADVL variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes very long chain acyl-CoA dehydrogenase deficiency, hereditary disease, and long chain acyl-CoA dehydrogenase deficiency. Example ACADVL variants include M1I, Q2*, and Q2L.
Variant analysis overview
- Gene: ACADVL
- Protein: P49748
- UniProt accession: P49748
- Organism: Homo sapiens
- Variants analyzed: 1265
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,131 unspecified-consequence records; 80 missense variants; 28 synonymous variants; 15 frameshift variants; 3 in-frame deletions; 1 stop-gained variants; 1 in-frame insertions; 5 substitution
- Prediction scores: 1,014 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: very long chain acyl-CoA dehydrogenase deficiency, hereditary disease, long chain acyl-CoA dehydrogenase deficiency, rhabdomyolysis, Acute rhabdomyolysis, Abnormal circulating enzyme concentration, metabolic myopathy, Abnormality of the musculature, cardiac arrhythmia, myopathy, autism spectrum disorder, intellectual developmental disorder 62.
Protein structure and variant hotspots
- Protein features: 5 binding sites; 23 post-translational modification sites.
- PTM context: 32 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 ACADVL variants
Examples include M1I, Q2*, Q2L, Q2R, Q2H, A3T, A3V, A3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs768236474, ClinGen CA8337508, ClinVar RCV000671153, MetaLR 0.82, MetaSVM 0.65, Likely pathogenic, Very long chain acyl-CoA dehydrogenase deficiency
- Q2* (p.Gln2Ter), rs2508229196, ClinGen CA397721899, ClinVar RCV002838630, CADD 19.10, Pathogenic
- Q2L (p.Gln2Leu), gnomAD 17-7219989-A-T, REVEL 0.41, CADD 14.60
- Q2R (p.Gln2Arg), gnomAD 17-7219989-A-G, REVEL 0.20, CADD 14.90
- Q2H (p.Gln2His), gnomAD 17-7219990-G-T, REVEL 0.28, CADD 18.60
- A3T (p.Ala3Thr), cosmic curated COSV57242
- A3V (p.Ala3Val), rs780877125, ClinGen CA8337509, ClinVar RCV002613107, ExAC rs780877125, REVEL 0.11, CADD 18.30, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- A3S (p.Ala3Ser), gnomAD 17-7219991-G-T, REVEL 0.15, CADD 15.50
- A3E (p.Ala3Glu), gnomAD 17-7219992-C-A, REVEL 0.30, CADD 17.90
- A3A (p.Ala3Ala), rs1331036812, gnomAD 17-7219993-G-A, CADD 11.20
- A4D (p.Ala4Asp), rs1019684161, ClinGen CA397721912, ClinVar RCV001899209, gnomAD rs1019684161, REVEL 0.39, CADD 16.50, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- A4T (p.Ala4Thr), Ensembl rs1009656644, REVEL 0.14, CADD 15.40
- A4V (p.Ala4Val), gnomAD rs1019684161, REVEL 0.15, CADD 16.90, Uncertain significance
- A4S (p.Ala4Ser), gnomAD 17-7219994-G-T, REVEL 0.12, CADD 15.10
- A4G (p.Ala4Gly), gnomAD 17-7219995-C-G, REVEL 0.13, CADD 16.60
- R5G (p.Arg5Gly), rs747672165, ClinGen CA8337510, ClinVar RCV001980321, ExAC rs747672165, REVEL 0.45, CADD 12.30, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- R5L (p.Arg5Leu), cosmic curated COSV10026, REVEL 0.35, CADD 15.50
- R5R (p.Arg5Arg), gnomAD 17-7219997-C-A, CADD 12.10
- R5W (p.Arg5Trp), gnomAD 17-7219997-C-T, REVEL 0.57, CADD 12.80
- R5Q (p.Arg5Gln), gnomAD 17-7219998-G-A, REVEL 0.19, CADD 15.80
- M6I (p.Met6Ile), rs1427232700, ClinGen CA397721926, ClinVar RCV002750793, TOPMed rs1427232700, REVEL 0.19, CADD 9.10, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- M6R (p.Met6Arg), TOPMed rs1165009307, gnomAD rs1165009307, Uncertain significance
- M6T (p.Met6Thr), rs1165009307, ClinGen CA397721922, ClinVar RCV002786005, TOPMed rs1165009307, REVEL 0.14, CADD 13.40, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- M6K (p.Met6Lys), rs1314310675, gnomAD 17-7217728-T-A, CADD 24.80
- M6G (p.Met6Gly), gnomAD 17-7219992-CGGCTC, CADD 18.80
- A7D (p.Ala7Asp), rs2142959240, ClinGen CA397721930, ClinVar RCV002005641, Ensembl rs2142959240, REVEL 0.36, CADD 12.50, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- A7R (p.Ala7Arg), gnomAD 17-7217161-GC-G, CADD 28.70
- A7T (p.Ala7Thr), gnomAD 17-7217161-G-A, CADD 23.90
- A7S (p.Ala7Ser), gnomAD 17-7217161-G-T, CADD 23.50
- A7V (p.Ala7Val), gnomAD 17-7217162-C-T, CADD 23.70
- A7A (p.Ala7Ala), gnomAD 17-7217163-C-A, CADD 14.20
- A7G (p.Ala7Gly), gnomAD 17-7217165-C-G, CADD 24.80
- A7E (p.Ala7Glu), gnomAD 17-7217165-C-A, CADD 23.20
- A8S (p.Ala8Ser), Ensembl rs567176096, CADD 21.60
- A9del (p.Ala9del), gnomAD 17-7217163-CGCG-C, CADD 21.20
- A8T (p.Ala8Thr), rs1356681613, gnomAD 17-7217167-G-A, CADD 22.40
- A8E (p.Ala8Glu), gnomAD 17-7217168-C-A, CADD 19.80
- A8V (p.Ala8Val), rs2070956910, gnomAD 17-7217168-C-T, CADD 15.80
- A8A (p.Ala8Ala), rs1210786746, gnomAD 17-7217169-G-A, CADD 13.80
- S9N (p.Ser9Asn), cosmic curated COSV10513, REVEL 0.16, CADD 9.63
- S9T (p.Ser9Thr), rs770590027, ClinGen CA287433597, ClinVar RCV003092591, Ensembl rs770590027, REVEL 0.17, CADD 9.26, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- S9I (p.Ser9Ile), gnomAD 17-7220010-G-T, REVEL 0.30, CADD 9.14
- S9S (p.Ser9Ser), rs1231124119, gnomAD 17-7220011-C-T, CADD 3.07
- L10V (p.Leu10Val), rs2070954999, gnomAD 17-7217149-T-G, CADD 22.70
- L10L (p.Leu10Leu), gnomAD 17-7217149-T-C, CADD 13.60
- L10P (p.Leu10Pro), gnomAD 17-7217150-T-TG, CADD 32.00
- L10W (p.Leu10Trp), gnomAD 17-7217150-T-G, CADD 24.40
- L10S (p.Leu10Ser), gnomAD 17-7217150-T-C, CADD 23.80
- L10F (p.Leu10Phe), gnomAD 17-7217151-G-T, CADD 23.30
- L10M (p.Leu10Met), gnomAD 17-7217158-C-A, CADD 23.60
- L10Q (p.Leu10Gln), gnomAD 17-7217159-T-A, CADD 24.50
- G11A (p.Gly11Ala), rs1278225233, gnomAD 17-7217150-TG-T, CADD 27.50
- G11W (p.Gly11Trp), gnomAD 17-7217152-G-T, CADD 23.90
- G11R (p.Gly11Arg), gnomAD 17-7217152-G-A, CADD 23.50
- G11E (p.Gly11Glu), gnomAD 17-7217153-G-A, CADD 23.70
- G11V (p.Gly11Val), gnomAD 17-7217153-G-T, CADD 23.60
- G11G (p.Gly11Gly), gnomAD 17-7217154-G-T, CADD 13.10
- G11S (p.Gly11Ser), rs1418312899, gnomAD 17-7217155-G-A, CADD 24.10
- G11C (p.Gly11Cys), gnomAD 17-7217155-G-T, CADD 24.50
- G11D (p.Gly11Asp), gnomAD 17-7217156-G-A, CADD 23.70
- G11* (p.Gly11Ter), gnomAD 17-7217173-G-T, CADD 45.00
- p.Gly10 Thr11insIle, gnomAD 17-7217716-G-GGAT, CADD 19.30
- R12L (p.Arg12Leu), gnomAD rs1198265143, REVEL 0.36, CADD 16.10, Uncertain significance, not provided
- R12Q (p.Arg12Gln), rs1198265143, ClinGen CA397721959, ClinVar RCV003214388, gnomAD rs1198265143, CADD 23.30, Uncertain significance, Inborn genetic diseases
- R12W (p.Arg12Trp), rs769290349, ClinGen CA8337512, ClinVar RCV001923287, ExAC rs769290349, CADD 23.80, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- R12G (p.Arg12Gly), rs1374847606, gnomAD 17-7217721-C-G, CADD 23.30
- R12R (p.Arg12Arg), gnomAD 17-7217723-G-A, CADD 13.90
- R12del (p.Arg12del), rs756720482, gnomAD 17-7220015-GGGC-G, CADD 17.80
- Q13* (p.Gln13Ter), rs63750670, ClinGen CA287433650, ClinVar RCV001003624, ClinVar RCV002472377, CADD 18.60, Pathogenic
- Q13H (p.Gln13His), gnomAD rs1481490993, REVEL 0.31, CADD 15.70, Likely benign
- Q13L (p.Gln13Leu), rs529443594, ClinGen CA8337513, ClinVar RCV003361732, 1000Genomes rs529443594, REVEL 0.47, CADD 18.80, Uncertain significance, Inborn genetic diseases
- Q13E (p.Gln13Glu), gnomAD 17-7220021-C-G, REVEL 0.30, CADD 18.30
- Q13K (p.Gln13Lys), gnomAD 17-7220021-C-A, REVEL 0.32, CADD 18.10
- L14M (p.Leu14Met), cosmic curated COSV10731, REVEL 0.38, CADD 17.80
- L14V (p.Leu14Val), rs2508230766, ClinGen CA397721969, ClinVar RCV003837246, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- L14L (p.Leu14Leu), gnomAD 17-7220024-C-T, CADD 18.30
- L15M (p.Leu15Met), gnomAD 17-7220027-C-A, REVEL 0.39, CADD 16.70
- L15L (p.Leu15Leu), gnomAD 17-7220027-C-T, CADD 17.10
- L15P (p.Leu15Pro), gnomAD 17-7220028-T-C, REVEL 0.65, CADD 19.50
- R16G (p.Arg16Gly), ExAC rs763471070, gnomAD rs763471070, REVEL 0.58, CADD 16.50
- R16M (p.Arg16Met), gnomAD 17-7220031-G-T, REVEL 0.52, CADD 16.50
- R16R (p.Arg16Arg), gnomAD 17-7220032-G-A, CADD 11.70
- R16S (p.Arg16Ser), gnomAD 17-7220032-G-T, REVEL 0.55, CADD 11.10
- L17F (p.Leu17Phe), rs2230179, ClinGen CA341522, ClinVar RCV000020078, ClinVar RCV000224359, REVEL 0.24, CADD 6.03, Benign, Very long chain acyl-CoA dehydrogenase deficiency
- L17R (p.Leu17Arg), TOPMed rs2071110309, REVEL 0.19, CADD 15.20
- L17I (p.Leu17Ile), gnomAD 17-7220033-C-A, REVEL 0.21, CADD 5.38
- L17L (p.Leu17Leu), rs376733533, gnomAD 17-7220035-C-T, CADD 9.30
- G18R (p.Gly18Arg), gnomAD rs1200908682
- G18W (p.Gly18Trp), gnomAD 17-7220036-G-T, REVEL 0.47, CADD 10.30
- G18G (p.Gly18Gly), gnomAD 17-7220038-G-T, CADD 8.29
- G19D (p.Gly19Asp), cosmic curated COSV57241, ESP rs144036152, ExAC rs144036152, TOPMed rs144036152, REVEL 0.28, CADD 6.16, Uncertain significance
- G19V (p.Gly19Val), rs144036152, ClinGen CA8337517, ClinVar RCV002919018, ESP rs144036152, REVEL 0.28, CADD 5.63, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- G19A (p.Gly19Ala), gnomAD 17-7220035-CG-C, CADD 9.50
- G19S (p.Gly19Ser), gnomAD 17-7220039-G-A, REVEL 0.19, CADD 4.11
- G19C (p.Gly19Cys), gnomAD 17-7220039-G-T, REVEL 0.35, CADD 3.57
- G19G (p.Gly19Gly), rs760910297, gnomAD 17-7220041-C-T, CADD 10.40
- G20* (p.Gly20Ter), rs2508231433, ClinGen CA397722002, ClinVar RCV002717372, CADD 8.60, Pathogenic
- G20E (p.Gly20Glu), rs764285088, ClinGen CA8337520, ClinVar RCV003067325, ExAC rs764285088, REVEL 0.13, CADD 10.30, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- G20R (p.Gly20Arg), gnomAD 17-7220042-G-A, REVEL 0.16, CADD 9.03
- G20V (p.Gly20Val), gnomAD 17-7220043-G-T, REVEL 0.17, CADD 9.77
- S21N (p.Ser21Asn), rs753922855, ClinGen CA8337521, ClinVar RCV001802604, ClinVar RCV004813188, REVEL 0.34, CADD 21.30, Likely pathogenic, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Very long chai
- S21G (p.Ser21Gly), gnomAD 17-7220045-A-G, REVEL 0.35, CADD 18.90
- S21I (p.Ser21Ile), gnomAD 17-7220046-G-T, REVEL 0.47, CADD 19.00
- S21R (p.Ser21Arg), gnomAD 17-7220122-C-A, REVEL 0.24, CADD 17.10
- S22* (p.Ser22Ter), rs727503788, ClinGen CA233425, ClinVar RCV000152732, ClinVar RCV000985184, CADD 35.00, Pathogenic
- S22L (p.Ser22Leu), rs727503788, ClinGen CA8337542, ClinVar RCV003110861, ClinVar RCV004754964, REVEL 0.07, CADD 20.50, Uncertain significance, Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase deficiency
- S22P (p.Ser22Pro), rs1950796544, ClinGen CA397722025, ClinVar RCV003091041, TOPMed rs1950796544, AlphaMissense 0.07, MetaLR 0.81, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- S22W (p.Ser22Trp), rs727503788, ClinGen CA397722027, ClinVar RCV002037005, 1000Genomes rs727503788, REVEL 0.38, CADD 24.50, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- S22S (p.Ser22Ser), gnomAD 17-7220125-G-T, CADD 10.40
- R23G (p.Arg23Gly), ExAC rs766286327, gnomAD rs766286327, REVEL 0.35, CADD 19.80
- R23L (p.Arg23Leu), rs34153370, ClinGen CA397722029, ClinVar RCV002048630, 1000Genomes rs34153370, REVEL 0.30, CADD 19.20, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- R23Q (p.Arg23Gln), rs34153370, ClinGen CA341524, ClinVar RCV000020079, ClinVar RCV000755204, REVEL 0.12, CADD 15.80, Benign, Very long chain acyl-CoA dehydrogenase deficiency
- R23W (p.Arg23Trp), ExAC rs766286327, gnomAD rs766286327, REVEL 0.24, CADD 22.40
- R23R (p.Arg23Arg), rs779632510, gnomAD 17-7217759-G-A, CADD 13.40
- R23K (p.Arg23Lys), rs1287359264, gnomAD 17-7217767-G-A, CADD 7.19
- R23M (p.Arg23Met), gnomAD 17-7217767-G-T, CADD 14.60
- L24F (p.Leu24Phe), gnomAD rs1276666051, REVEL 0.14, CADD 5.27
- L24P (p.Leu24Pro), Ensembl rs2142960822
- L24I (p.Leu24Ile), gnomAD 17-7220129-C-A, REVEL 0.14, CADD 2.62
- L24L (p.Leu24Leu), gnomAD 17-7220131-C-A, CADD 7.37
- T25S (p.Thr25Ser), gnomAD 17-7217719-C-G, CADD 22.50
- T25I (p.Thr25Ile), gnomAD 17-7217719-C-T, CADD 22.80
- T25K (p.Thr25Lys), rs1178274476, gnomAD 17-7217801-GACAGC, CADD 21.80
- T25A (p.Thr25Ala), gnomAD 17-7217802-A-G, CADD 9.70
- T25R (p.Thr25Arg), gnomAD 17-7217803-C-G, CADD 14.80
- T25M (p.Thr25Met), rs781755362, gnomAD 17-7217812-C-T, AlphaMissense 0.95, MetaLR 0.23
- T25T (p.Thr25Thr), rs1441310624, gnomAD 17-7217813-G-T, CADD 0.33
- T25P (p.Thr25Pro), gnomAD 17-7220132-A-C, REVEL 0.18, CADD 7.42
- A26G (p.Ala26Gly), TOPMed rs905475056, gnomAD rs905475056, REVEL 0.18, CADD 12.80
- A26V (p.Ala26Val), TOPMed rs905475056, gnomAD rs905475056, REVEL 0.14, CADD 8.43
- A26A (p.Ala26Ala), rs930202899, gnomAD 17-7217747-A-C, CADD 12.80
- A26K (p.Ala26Lys), gnomAD 17-7217748-G-GAA, CADD 21.80
- A26T (p.Ala26Thr), gnomAD 17-7217751-G-A, CADD 18.50
- A26E (p.Ala26Glu), gnomAD 17-7220136-C-A, REVEL 0.17, CADD 7.56
- L27F (p.Leu27Phe), rs1597516267, ClinGen CA397722050, ClinVar RCV000811848, ClinVar RCV001772097, AlphaMissense 0.07, MetaLR 0.75, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency; not provided
- L27P (p.Leu27Pro), Ensembl rs2142960909, REVEL 0.20, CADD 21.20
- L27E (p.Leu27Glu), rs1567555710, gnomAD 17-7217759-GCC-G, CADD 24.50
- L27M (p.Leu27Met), gnomAD 17-7217763-C-A, CADD 21.80
- L27L (p.Leu27Leu), rs1048545082, gnomAD 17-7217765-G-A, CADD 9.43
- L27V (p.Leu27Val), gnomAD 17-7220138-C-G, REVEL 0.12, CADD 3.61
- L28P (p.Leu28Pro), gnomAD 17-7220142-T-C, REVEL 0.48, CADD 16.60
- L28L (p.Leu28Leu), gnomAD 17-7220143-G-T, CADD 9.12
- G29E (p.Gly29Glu), rs1247979958, ClinGen CA397722062, ClinVar RCV000652040, gnomAD rs1247979958, REVEL 0.31, CADD 22.50, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- G29V (p.Gly29Val), gnomAD rs1247979958, Uncertain significance
- G29R (p.Gly29Arg), gnomAD 17-7220144-G-A, REVEL 0.28, CADD 18.50
- G29W (p.Gly29Trp), gnomAD 17-7220144-G-T, REVEL 0.48, CADD 24.30
- G29G (p.Gly29Gly), gnomAD 17-7220146-G-A, CADD 9.66
- Q30* (p.Gln30Ter), gnomAD rs1292389593
- Q30K (p.Gln30Lys), gnomAD rs1292389593, REVEL 0.26, CADD 19.20
- Q30E (p.Gln30Glu), rs1567555682, gnomAD 17-7217751-GCA-G, CADD 23.40
- Q30R (p.Gln30Arg), gnomAD 17-7217755-A-G, CADD 14.30
- Q30L (p.Gln30Leu), gnomAD 17-7217755-A-T, CADD 18.70
- Q30H (p.Gln30His), rs1308921229, gnomAD 17-7217756-G-C, CADD 20.10
- Q30P (p.Gln30Pro), rs1001019087, gnomAD 17-7217766-AGGCAA, CADD 26.50
- Q30Q (p.Gln30Gln), gnomAD 17-7217771-A-G, CADD 13.30
- Q30S (p.Gln30Ser), gnomAD 17-7220142-TG-T, CADD 23.20
- P31S (p.Pro31Ser), rs1487946294, ClinGen CA397722074, cosmic curated COSV10731, ClinVar RCV002030868, REVEL 0.35, CADD 16.10, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- P31T (p.Pro31Thr), rs1351975316, gnomAD 17-7217760-C-A, CADD 16.20
- P31P (p.Pro31Pro), rs2071000155, gnomAD 17-7217762-C-T, CADD 14.20
- P31H (p.Pro31His), gnomAD 17-7220151-C-A, REVEL 0.31, CADD 18.60
- R32Q (p.Arg32Gln), rs754806489, ClinGen CA8337544, ClinVar RCV000690917, ExAC rs754806489, REVEL 0.14, CADD 11.90, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- R32W (p.Arg32Trp), gnomAD rs1213778974
- R32I (p.Arg32Ile), gnomAD 17-7217779-G-T, CADD 24.10
- p.Arg32 Tyr40delinsHis, gnomAD 17-7220153-CGGCCC, CADD 19.10
- R32L (p.Arg32Leu), gnomAD 17-7220154-G-T, REVEL 0.10, CADD 10.50
- R32R (p.Arg32Arg), rs1243371051, gnomAD 17-7220155-G-A, CADD 9.01
- P33S (p.Pro33Ser), gnomAD rs1485960014, REVEL 0.13, CADD 11.60
- G34S (p.Gly34Ser), rs781061205, ClinGen CA8337545, ClinVar RCV000795353, ExAC rs781061205, REVEL 0.13, CADD 7.09, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- G34D (p.Gly34Asp), gnomAD 17-7217785-G-A, CADD 22.00
- G34G (p.Gly34Gly), rs72839706, gnomAD 17-7217786-C-A, CADD 10.50
- P35L (p.Pro35Leu), rs2071001420, gnomAD 17-7217791-C-T, CADD 10.80
- P35S (p.Pro35Ser), gnomAD 17-7217793-C-T, CADD 16.10
- P35G (p.Pro35Gly), rs1329022268, gnomAD 17-7220154-GGCCCG, CADD 22.20
- A36V (p.Ala36Val), rs1165915680, ClinGen CA397722104, ClinVar RCV001200676, ClinVar RCV004792785, REVEL 0.39, CADD 20.20, Uncertain significance, Inborn genetic diseases; not provided; Very long chain acyl-CoA dehydrogenase de
- A36S (p.Ala36Ser), rs749549400, gnomAD 17-7217796-G-T, CADD 13.10
- A36E (p.Ala36Glu), gnomAD 17-7217797-C-A, CADD 16.70
- A36G (p.Ala36Gly), gnomAD 17-7217797-C-G, CADD 17.40
- A36A (p.Ala36Ala), rs757466308, gnomAD 17-7217798-G-T, CADD 2.31
- R37Q (p.Arg37Gln), rs2508236993, ClinGen CA397722106, ClinVar RCV002636383, REVEL 0.25, CADD 3.02, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
- R37W (p.Arg37Trp), rs536992268, ClinGen CA8337546, ClinVar RCV000367977, ClinVar RCV002450886, REVEL 0.32, CADD 14.40, Uncertain significance, Very long chain acyl-CoA dehydrogenase deficiency
Public ACADVL analysis runs
- ACADVL analysis run — ACADVL (1,265 variants) — completed 2026-08-19