ALDH5A1 (P51649) variants and mutations
ALDH5A1 (also known as P51649) is a human protein-coding gene encoding a succinate-semialdehyde dehydrogenase, mitochondrial protein. Its annotated function is catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). It is annotated at the mitochondrion. This analysis covers 1,225 ALDH5A1 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes succinic semialdehyde dehydrogenase deficiency, epilepsy, and bipolar disorder. Example ALDH5A1 variants include M1T, A2V, and A2P.
Variant analysis overview
- Gene: ALDH5A1
- Protein: P51649
- UniProt accession: P51649
- Organism: Homo sapiens
- Variants analyzed: 1225
- Variant scope: all variants
- Completed: 2026-09-01
Variant and mutation evidence
- Variant composition: 800 unspecified-consequence records; 272 missense variants; 108 synonymous variants; 12 stop-gained variants; 30 frameshift variants; 5 in-frame deletions; 1 splice-region variants; 1 substitution
- Prediction scores: 1,150 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: succinic semialdehyde dehydrogenase deficiency, epilepsy, bipolar disorder, Seizure, major depressive disorder, hereditary disease, migraine disorder, Generalized non-motor (absence) seizure, complex partial epilepsy, bipolar I disorder, mitochondrial disease, Anorexia.
Protein structure and variant hotspots
- Protein features: 8 binding sites; 10 post-translational modification sites.
- PTM context: 6 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 ALDH5A1 variants
Examples include M1T, A2V, A2P, A2S, A2T, A2E, A2A, T3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs1248373329, ClinGen CA362968042, ClinVar RCV002601872, MetaLR 0.46, MetaSVM -0.08, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- A2V (p.Ala2Val), rs780751641, ClinGen CA3656547, ClinVar RCV003089622, ExAC rs780751641, REVEL 0.46, MetaLR 0.16, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- A2P (p.Ala2Pro), gnomAD 6-24495000-G-C, REVEL 0.48, CADD 25.30
- A2S (p.Ala2Ser), gnomAD 6-24495000-G-T, REVEL 0.20, CADD 23.10
- A2T (p.Ala2Thr), gnomAD 6-24495000-G-A, REVEL 0.17, CADD 22.30
- A2E (p.Ala2Glu), gnomAD 6-24495001-C-A, REVEL 0.44, CADD 24.50
- A2A (p.Ala2Ala), gnomAD 6-24495002-G-C, CADD 19.70
- T3S (p.Thr3Ser), gnomAD 6-24495003-A-T, REVEL 0.07, CADD 19.30
- T3A (p.Thr3Ala), gnomAD 6-24495003-A-G, REVEL 0.14, CADD 20.30
- T3N (p.Thr3Asn), gnomAD 6-24495004-C-A, REVEL 0.23, CADD 20.80
- T3I (p.Thr3Ile), gnomAD 6-24495004-C-T, REVEL 0.27, CADD 19.20
- T3T (p.Thr3Thr), gnomAD 6-24495005-C-G, CADD 17.10
- C4G (p.Cys4Gly), rs200793796, ClinGen CA3656548, ClinVar RCV000298285, ClinVar RCV000368436, REVEL 0.19, MetaLR 0.14, Benign/Likely benign, not specified; not provided; Succinate-semialdehyde dehydrogenase deficiency
- C4W (p.Cys4Trp), ExAC rs764183507, TOPMed rs764183507, gnomAD rs764183507, REVEL 0.44, MetaLR 0.26, Likely benign
- C4Y (p.Cys4Tyr), cosmic curated COSV62372, REVEL 0.41, MetaLR 0.21
- C4R (p.Cys4Arg), gnomAD 6-24495006-T-C, REVEL 0.35, CADD 22.80
- C4S (p.Cys4Ser), gnomAD 6-24495006-T-A, REVEL 0.18, CADD 22.30
- C4F (p.Cys4Phe), gnomAD 6-24495007-G-T, REVEL 0.42, CADD 23.50
- C4* (p.Cys4Ter), gnomAD 6-24495008-C-A, CADD 36.00
- C4C (p.Cys4Cys), rs764183507, gnomAD 6-24495008-C-T, CADD 16.70
- I5V (p.Ile5Val), rs200398000, ClinGen CA3656550, ClinVar RCV000525342, ClinVar RCV000678774, REVEL 0.10, MetaLR 0.08, Conflicting interpretations, not specified; not provided; Succinate-semialdehyde dehydrogenase deficiency
- I5T (p.Ile5Thr), gnomAD 6-24495010-T-C, REVEL 0.18, CADD 20.70
- I5S (p.Ile5Ser), gnomAD 6-24495010-T-G, REVEL 0.17, CADD 17.50
- I5N (p.Ile5Asn), gnomAD 6-24495010-T-A, REVEL 0.19, CADD 21.90
- I5I (p.Ile5Ile), gnomAD 6-24495011-T-C, CADD 10.30
- W6C (p.Trp6Cys), rs569456241, ClinGen CA3656551, ClinVar RCV000532244, ClinVar RCV001090480, REVEL 0.16, MetaLR 0.11, Benign/Likely benign, not provided; Succinate-semialdehyde dehydrogenase deficiency
- W6L (p.Trp6Leu), cosmic curated COSV10070, REVEL 0.09, MetaLR 0.08
- W6G (p.Trp6Gly), gnomAD 6-24495009-AT-A, CADD 22.60
- W6R (p.Trp6Arg), gnomAD 6-24495012-T-C, REVEL 0.14, CADD 15.30
- W6S (p.Trp6Ser), gnomAD 6-24495013-G-C, REVEL 0.10, CADD 19.20
- W6* (p.Trp6Ter), gnomAD 6-24495013-G-A, CADD 36.00
- L7R (p.Leu7Arg), rs774379306, ClinGen CA3656553, ClinVar RCV001038592, ClinVar RCV001772217, REVEL 0.38, MetaLR 0.13, Uncertain significance, not provided; Succinate-semialdehyde dehydrogenase deficiency
- L7L (p.Leu7Leu), rs369728509, gnomAD 6-24495015-C-T, CADD 18.90
- L7M (p.Leu7Met), gnomAD 6-24495015-C-A, REVEL 0.24, CADD 24.10
- L7Q (p.Leu7Gln), gnomAD 6-24495016-T-A, REVEL 0.45, CADD 24.00
- L7P (p.Leu7Pro), gnomAD 6-24495016-T-C, REVEL 0.43, CADD 23.90
- R8Q (p.Arg8Gln), Ensembl rs1764658487, REVEL 0.11, MetaLR 0.12
- R8W (p.Arg8Trp), rs767601869, ClinGen CA3656555, ClinVar RCV001415778, ClinVar RCV001762674, REVEL 0.38, MetaLR 0.18, Conflicting interpretations, Succinate-semialdehyde dehydrogenase deficiency; not provided
- R8R (p.Arg8Arg), rs767601869, gnomAD 6-24495018-C-A, CADD 18.80
- R8L (p.Arg8Leu), gnomAD 6-24495019-G-T, REVEL 0.29, CADD 22.90
- S9R (p.Ser9Arg), TOPMed rs1390389121, gnomAD rs1390389121, REVEL 0.20, MetaLR 0.10, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- S9G (p.Ser9Gly), gnomAD 6-24495021-A-G, REVEL 0.14, CADD 13.00
- S9T (p.Ser9Thr), gnomAD 6-24495022-G-C, REVEL 0.12, CADD 14.00
- S9I (p.Ser9Ile), gnomAD 6-24495022-G-T, REVEL 0.17, CADD 15.80
- S9N (p.Ser9Asn), gnomAD 6-24495022-G-A, REVEL 0.07, CADD 14.10
- S9S (p.Ser9Ser), rs968707357, gnomAD 6-24495023-C-T, CADD 11.70
- C10R (p.Cys10Arg), TOPMed rs1011665766, gnomAD rs1011665766, REVEL 0.12, MetaLR 0.10, Uncertain significance
- C10S (p.Cys10Ser), rs1011665766, ClinGen CA362968096, ClinVar RCV000813780, ClinVar RCV002293485, REVEL 0.12, MetaLR 0.08, Uncertain significance, not provided; Succinate-semialdehyde dehydrogenase deficiency
- C10Y (p.Cys10Tyr), ExAC rs773355408, TOPMed rs773355408, gnomAD rs773355408, REVEL 0.11, MetaLR 0.10
- C10G (p.Cys10Gly), gnomAD 6-24495024-T-G, REVEL 0.12, CADD 15.90
- C10F (p.Cys10Phe), gnomAD 6-24495025-G-T, REVEL 0.12, CADD 8.43
- C10* (p.Cys10Ter), gnomAD 6-24495026-T-A, CADD 34.00
- C10W (p.Cys10Trp), gnomAD 6-24495026-T-G, REVEL 0.17, CADD 18.70
- C10C (p.Cys10Cys), gnomAD 6-24495026-T-C, CADD 11.60
- G11E (p.Gly11Glu), rs373315916, ClinGen CA3656557, cosmic curated COSV62372, ClinVar RCV000733275, REVEL 0.11, MetaLR 0.10, Conflicting interpretations, not provided; Succinate-semialdehyde dehydrogenase deficiency; Inborn genetic di
- G11R (p.Gly11Arg), gnomAD 6-24495027-G-A, REVEL 0.15, CADD 0.78
- G11W (p.Gly11Trp), gnomAD 6-24495027-G-T, REVEL 0.17, CADD 1.40
- G11V (p.Gly11Val), gnomAD 6-24495028-G-T, REVEL 0.08, CADD 7.44
- G11A (p.Gly11Ala), gnomAD 6-24495028-G-C, REVEL 0.10, CADD 7.56
- G11G (p.Gly11Gly), rs1581800370, gnomAD 6-24495029-G-A, CADD 7.73
- A12P (p.Ala12Pro), gnomAD 6-24495026-TG-T, CADD 6.05
- A12G (p.Ala12Gly), rs1397344379, gnomAD 6-24495026-T-TG, CADD 18.90
- A12S (p.Ala12Ser), gnomAD 6-24495030-G-T, REVEL 0.16, CADD 16.00
- A12T (p.Ala12Thr), gnomAD 6-24495030-G-A, REVEL 0.18, CADD 14.50
- A12V (p.Ala12Val), gnomAD 6-24495031-C-T, REVEL 0.28, CADD 17.10
- A12D (p.Ala12Asp), gnomAD 6-24495031-C-A, REVEL 0.42, CADD 21.50
- A12A (p.Ala12Ala), gnomAD 6-24495032-C-A, CADD 7.07
- R13L (p.Arg13Leu), cosmic curated COSV62372, REVEL 0.14, MetaLR 0.06
- R13Q (p.Arg13Gln), ExAC rs111455631, TOPMed rs111455631, gnomAD rs111455631, REVEL 0.11, MetaLR 0.06
- R13W (p.Arg13Trp), rs766443938, ClinGen CA3656559, ClinVar RCV001367518, ClinVar RCV001553422, REVEL 0.24, MetaLR 0.15, Uncertain significance, not provided; Succinate-semialdehyde dehydrogenase deficiency
- R13G (p.Arg13Gly), rs761736693, gnomAD 6-24495030-GC-G, CADD 19.10
- R13R (p.Arg13Arg), gnomAD 6-24495033-C-A, CADD 10.10
- R13P (p.Arg13Pro), gnomAD 6-24495034-G-C, REVEL 0.14, CADD 2.10
- R14G (p.Arg14Gly), ExAC rs759844054, TOPMed rs759844054, gnomAD rs759844054, REVEL 0.28, MetaLR 0.15
- R14S (p.Arg14Ser), ExAC rs759844054, TOPMed rs759844054, gnomAD rs759844054, REVEL 0.22, MetaLR 0.14, Uncertain significance, Inborn genetic diseases
- R14C (p.Arg14Cys), gnomAD 6-24495036-C-T, REVEL 0.29, CADD 19.80
- R14L (p.Arg14Leu), gnomAD 6-24495037-G-T, REVEL 0.24, CADD 18.20
- R14H (p.Arg14His), gnomAD 6-24495037-G-A, REVEL 0.20, CADD 14.10
- R14R (p.Arg14Arg), gnomAD 6-24495038-C-A, CADD 9.99
- L15F (p.Leu15Phe), TOPMed rs1764659574, REVEL 0.24, MetaLR 0.13
- L15R (p.Leu15Arg), rs535285968, ClinGen CA3656562, ClinVar RCV001038639, ClinVar RCV004629404, REVEL 0.21, MetaLR 0.12, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency; Inborn genetic diseases
- L15I (p.Leu15Ile), gnomAD 6-24495039-C-A, REVEL 0.16, CADD 11.80
- L15H (p.Leu15His), gnomAD 6-24495040-T-A, REVEL 0.22, CADD 17.10
- L15P (p.Leu15Pro), gnomAD 6-24495040-T-C, REVEL 0.15, CADD 14.00
- L15L (p.Leu15Leu), gnomAD 6-24495041-C-G, CADD 7.67
- G16R (p.Gly16Arg), rs1224797369, ClinGen CA362968126, ClinVar RCV002647574, TOPMed rs1224797369, REVEL 0.14, MetaLR 0.10, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- G16V (p.Gly16Val), cosmic curated COSV10070, REVEL 0.14, MetaLR 0.11
- G16W (p.Gly16Trp), gnomAD 6-24495042-G-T, REVEL 0.31, CADD 18.60
- G16E (p.Gly16Glu), gnomAD 6-24495043-G-A, REVEL 0.17, CADD 8.97
- G16A (p.Gly16Ala), gnomAD 6-24495043-G-C, REVEL 0.09, CADD 6.70
- G16G (p.Gly16Gly), rs1034598523, gnomAD 6-24495044-G-T, CADD 4.66
- S17L (p.Ser17Leu), rs753168976, ClinGen CA3656563, cosmic curated COSV62374, ClinVar RCV000331869, REVEL 0.06, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; not provided; Succinate-semialdehyde dehydrogenase defi
- S17P (p.Ser17Pro), gnomAD rs1764660058, REVEL 0.10, MetaLR 0.11
- S17R (p.Ser17Arg), gnomAD 6-24495041-CG-C, CADD 12.80
- S17T (p.Ser17Thr), gnomAD 6-24495045-T-A, REVEL 0.08, MetaLR 0.09
- S17A (p.Ser17Ala), gnomAD 6-24495045-T-G, REVEL 0.07, MetaLR 0.08
- S17* (p.Ser17Ter), gnomAD 6-24495046-C-A, CADD 32.00
- S17S (p.Ser17Ser), gnomAD 6-24495047-G-C, CADD 4.27
- T18A (p.Thr18Ala), gnomAD 6-24495048-A-G, REVEL 0.07, MetaLR 0.06
- T18K (p.Thr18Lys), gnomAD 6-24495049-C-A, REVEL 0.11, MetaLR 0.10
- T18M (p.Thr18Met), gnomAD 6-24495049-C-T, REVEL 0.17, MetaLR 0.10
- T18R (p.Thr18Arg), gnomAD 6-24495049-C-G, REVEL 0.11, MetaLR 0.09
- T18T (p.Thr18Thr), rs1254730579, gnomAD 6-24495050-G-T, CADD 5.71
- F19S (p.Phe19Ser), rs2532811024, ClinGen CA362968146, ClinVar RCV002821075, REVEL 0.14, MetaLR 0.09, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- F19I (p.Phe19Ile), gnomAD 6-24495051-T-A, REVEL 0.09, MetaLR 0.08
- F19L (p.Phe19Leu), gnomAD 6-24495051-T-C, REVEL 0.07, MetaLR 0.06
- F19F (p.Phe19Phe), gnomAD 6-24495053-T-C, CADD 9.89
- P20A (p.Pro20Ala), rs1561865558, ClinGen CA362968151, ClinVar RCV001371912, gnomAD rs1561865558, REVEL 0.17, MetaLR 0.14, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- P20L (p.Pro20Leu), Ensembl rs1270587368, REVEL 0.20, MetaLR 0.14
- P20S (p.Pro20Ser), gnomAD rs1561865558, REVEL 0.17, MetaLR 0.12, Uncertain significance
- P20Q (p.Pro20Gln), gnomAD 6-24495050-GT-G, CADD 14.50
- P20T (p.Pro20Thr), gnomAD 6-24495054-C-A, REVEL 0.22, MetaLR 0.15
- P20R (p.Pro20Arg), gnomAD 6-24495055-C-G, REVEL 0.25, MetaLR 0.15
- P20P (p.Pro20Pro), gnomAD 6-24495056-A-T, CADD 4.28
- G21D (p.Gly21Asp), rs371923295, ClinGen CA3656565, ClinVar RCV000537726, ExAC rs371923295, REVEL 0.17, MetaLR 0.13, Likely benign, Succinate-semialdehyde dehydrogenase deficiency
- G21C (p.Gly21Cys), gnomAD 6-24495057-G-T, REVEL 0.32, MetaLR 0.16
- G21S (p.Gly21Ser), gnomAD 6-24495057-G-A, REVEL 0.10, MetaLR 0.10
- G21V (p.Gly21Val), gnomAD 6-24495058-G-T, REVEL 0.18, MetaLR 0.12
- G21A (p.Gly21Ala), gnomAD 6-24495058-G-C, REVEL 0.11, MetaLR 0.08
- G21G (p.Gly21Gly), gnomAD 6-24495059-C-G, CADD 10.70
- C22Y (p.Cys22Tyr), ExAC rs750114301, TOPMed rs750114301, gnomAD rs750114301, REVEL 0.14, MetaLR 0.10
- C22R (p.Cys22Arg), gnomAD 6-24495060-T-C, REVEL 0.13, MetaLR 0.06
- C22G (p.Cys22Gly), gnomAD 6-24495060-T-G, REVEL 0.13, MetaLR 0.08
- C22F (p.Cys22Phe), gnomAD 6-24495061-G-T, REVEL 0.19, MetaLR 0.11
- C22S (p.Cys22Ser), gnomAD 6-24495061-G-C, REVEL 0.14, MetaLR 0.09
- C22W (p.Cys22Trp), gnomAD 6-24495062-C-G, REVEL 0.19, MetaLR 0.14
- C22C (p.Cys22Cys), gnomAD 6-24495062-C-T, CADD 6.67
- C22* (p.Cys22Ter), gnomAD 6-24495062-C-A, CADD 33.00
- R23H (p.Arg23His), TOPMed rs986991035, gnomAD rs986991035, REVEL 0.15, MetaLR 0.13
- R23A (p.Arg23Ala), gnomAD 6-24495061-GC-G, CADD 13.70
- R23S (p.Arg23Ser), gnomAD 6-24495063-C-A, REVEL 0.15, MetaLR 0.10
- R23C (p.Arg23Cys), gnomAD 6-24495063-C-T, REVEL 0.18, MetaLR 0.10
- R23G (p.Arg23Gly), gnomAD 6-24495063-C-G, REVEL 0.13, MetaLR 0.10
- R23P (p.Arg23Pro), gnomAD 6-24495064-G-C, REVEL 0.17, MetaLR 0.12
- R23L (p.Arg23Leu), gnomAD 6-24495064-G-T, REVEL 0.16, MetaLR 0.09
- R23R (p.Arg23Arg), gnomAD 6-24495065-C-T, CADD 8.00
- L24I (p.Leu24Ile), gnomAD 6-24495066-C-A, REVEL 0.09, MetaLR 0.10
- L24V (p.Leu24Val), gnomAD 6-24495066-C-G, REVEL 0.07, MetaLR 0.10
- L24F (p.Leu24Phe), gnomAD 6-24495066-C-T, REVEL 0.13, MetaLR 0.08
- L24P (p.Leu24Pro), gnomAD 6-24495066-CT-C, CADD 17.00
- L24R (p.Leu24Arg), gnomAD 6-24495067-T-G, REVEL 0.15, MetaLR 0.10
- L24H (p.Leu24His), gnomAD 6-24495067-T-A, REVEL 0.21, MetaLR 0.10
- L24L (p.Leu24Leu), gnomAD 6-24495068-C-T, CADD 6.51
- R25G (p.Arg25Gly), rs1204927317, ClinGen CA362968180, ClinVar RCV002962487, TOPMed rs1204927317, REVEL 0.23, MetaLR 0.13, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- R25H (p.Arg25His), TOPMed rs1457708018, REVEL 0.20, MetaLR 0.11
- R25P (p.Arg25Pro), TOPMed rs1457708018, REVEL 0.33, MetaLR 0.12
- R25S (p.Arg25Ser), gnomAD 6-24495069-C-A, REVEL 0.16, MetaLR 0.12
- R25C (p.Arg25Cys), gnomAD 6-24495069-C-T, REVEL 0.21, MetaLR 0.13
- R25L (p.Arg25Leu), gnomAD 6-24495070-G-T, REVEL 0.23, MetaLR 0.12
- R25R (p.Arg25Arg), gnomAD 6-24495071-C-G, CADD 4.69
- P26H (p.Pro26His), rs2532811185, ClinGen CA362968190, ClinVar RCV004398169, REVEL 0.28, MetaLR 0.20, Uncertain significance, Inborn genetic diseases
- P26A (p.Pro26Ala), gnomAD 6-24495072-C-G, REVEL 0.20, MetaLR 0.16
- P26T (p.Pro26Thr), gnomAD 6-24495072-C-A, REVEL 0.22, MetaLR 0.18
- P26S (p.Pro26Ser), gnomAD 6-24495072-C-T, REVEL 0.23, MetaLR 0.17
- P26L (p.Pro26Leu), gnomAD 6-24495073-C-T, REVEL 0.15, MetaLR 0.11
- P26R (p.Pro26Arg), gnomAD 6-24495073-C-G, REVEL 0.22, MetaLR 0.12
- P26P (p.Pro26Pro), gnomAD 6-24495074-C-T, CADD 9.27
- R27C (p.Arg27Cys), rs779798309, ClinGen CA362968191, ClinVar RCV001894592, 1000Genomes rs779798309, REVEL 0.19, MetaLR 0.13, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- R27G (p.Arg27Gly), rs779798309, ClinGen CA136122133, ClinVar RCV001051928, ClinVar RCV001558448, REVEL 0.20, MetaLR 0.14, Conflicting interpretations, not provided; Succinate-semialdehyde dehydrogenase deficiency
- R27H (p.Arg27His), rs749120771, ClinGen CA362968192, ClinVar RCV001303512, ExAC rs749120771, REVEL 0.25, MetaLR 0.17, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- R27L (p.Arg27Leu), ExAC rs749120771, TOPMed rs749120771, gnomAD rs749120771, REVEL 0.15, MetaLR 0.11, Uncertain significance
- R27P (p.Arg27Pro), ExAC rs749120771, TOPMed rs749120771, gnomAD rs749120771, REVEL 0.17, MetaLR 0.12, Uncertain significance
- R27S (p.Arg27Ser), 1000Genomes rs779798309, ExAC rs779798309, TOPMed rs779798309, gnomAD rs779798309, REVEL 0.16, MetaLR 0.12, Likely benign
- R27A (p.Arg27Ala), rs1247811674, gnomAD 6-24495070-GC-G, CADD 11.10
- R27R (p.Arg27Arg), rs1764661581, gnomAD 6-24495077-C-T, CADD 7.91
- A28T (p.Ala28Thr), rs1227540131, ClinGen CA362968194, ClinVar RCV001351158, TOPMed rs1227540131, REVEL 0.15, MetaLR 0.09, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- p.Ala28 Gly29del, rs1308920310, gnomAD 6-24495075-CGCGCC, CADD 10.10
- A28S (p.Ala28Ser), gnomAD 6-24495078-G-T, REVEL 0.14, MetaLR 0.08
- A28P (p.Ala28Pro), gnomAD 6-24495078-G-C, REVEL 0.16, MetaLR 0.09
- A28D (p.Ala28Asp), gnomAD 6-24495079-C-A, REVEL 0.23, MetaLR 0.15
- A28V (p.Ala28Val), gnomAD 6-24495079-C-T, REVEL 0.19, MetaLR 0.14
- A28A (p.Ala28Ala), gnomAD 6-24495080-C-G, CADD 7.65
- G29A (p.Gly29Ala), rs768533338, ClinGen CA3656570, ClinVar RCV001065789, ClinVar RCV001200286, REVEL 0.07, MetaLR 0.10, Uncertain significance, not provided; Succinate-semialdehyde dehydrogenase deficiency
- G29D (p.Gly29Asp), rs768533338, ClinGen CA362968202, ClinVar RCV000823681, ExAC rs768533338, REVEL 0.11, MetaLR 0.09, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- G29S (p.Gly29Ser), rs940450388, ClinGen CA136122136, ClinVar RCV002632399, TOPMed rs940450388, REVEL 0.04, MetaLR 0.08, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
- G29C (p.Gly29Cys), gnomAD 6-24495081-G-T, REVEL 0.19, MetaLR 0.11
- G29R (p.Gly29Arg), gnomAD 6-24495081-G-C, REVEL 0.11, MetaLR 0.09
- G29V (p.Gly29Val), gnomAD 6-24495082-G-T, REVEL 0.14, MetaLR 0.11
- G29G (p.Gly29Gly), rs1581800500, gnomAD 6-24495083-C-G, CADD 8.78
- G30C (p.Gly30Cys), rs1171926592, ClinGen CA362968206, ClinVar RCV002024158, TOPMed rs1171926592, REVEL 0.09, MetaLR 0.08, Uncertain significance, Succinate-semialdehyde dehydrogenase deficiency
Public ALDH5A1 analysis runs
- ALDH5A1 analysis run — ALDH5A1 (1,225 variants) — completed 2026-09-01