AGL (Glycogen debranching enzyme) variants and mutations
AGL (also known as Glycogen debranching enzyme) is a human protein-coding gene encoding a glycogen debranching enzyme protein. Its annotated function is multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation. It is annotated at the cytoplasm. This analysis covers 2,357 AGL variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes glycogen storage disease III, disorder of glycogen metabolism, and glycogen storage disease XV. Example AGL variants include M1?, M1I, and G2E.
Variant analysis overview
- Gene: AGL
- Protein: Glycogen debranching enzyme
- UniProt accession: P35573
- Organism: Homo sapiens
- Variants analyzed: 2357
- Variant scope: all variants
- Completed: 2026-10-28
Variant and mutation evidence
- Variant composition: 2,274 unspecified-consequence records; 60 synonymous variants; 77 missense variants; 1 in-frame insertions; 20 frameshift variants; 4 splice-region variants; 6 stop-gained variants; 3 in-frame deletions; 1 substitution
- Prediction scores: 2,280 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: glycogen storage disease III, disorder of glycogen metabolism, glycogen storage disease XV, hereditary disease, Acute rhabdomyolysis, Abnormality of metabolism/homeostasis, response to xenobiotic stimulus, exfoliative dermatitis, hypertrophic cardiomyopathy, ileostomy, Meniere disease, essential tremor.
Protein structure and variant hotspots
- Protein features: 1 post-translational modification sites.
- PTM context: 1 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 AGL variants
Examples include M1?, M1I, G2E, G2R, G2G, H3P, H3Q, H3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV9964, cosmic curated COSV99648, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs1553181400, ClinGen CA341323353, ClinVar RCV000666939, ESM-1b 1.00, AlphaMissense 0.17, Likely pathogenic, Glycogen storage disease type III
- G2E (p.Gly2Glu), cosmic curated COSV10731, ExAC rs778848880, gnomAD rs778848880, REVEL 0.07, ESM-1b 0.00
- G2R (p.Gly2Arg), rs1218915839, ClinGen CA341323359, ClinVar RCV001320478, gnomAD rs1218915839, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- G2G (p.Gly2Gly), gnomAD 1-99851048-A-C, CADD 9.84
- H3P (p.His3Pro), ExAC rs752437446, TOPMed rs752437446, gnomAD rs752437446, REVEL 0.17, ESM-1b 0.00, Uncertain significance
- H3Q (p.His3Gln), Ensembl rs1571206038, REVEL 0.13, ESM-1b 0.00
- H3R (p.His3Arg), rs752437446, ClinGen CA965993, ClinVar RCV001931528, ExAC rs752437446, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- H3Y (p.His3Tyr), gnomAD 1-99851049-C-T, REVEL 0.13, ESM-1b 0.00
- S4N (p.Ser4Asn), rs1257997077, ClinGen CA341323405, ClinVar RCV001246859, TOPMed rs1257997077, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- S4R (p.Ser4Arg), ExAC rs758199444, gnomAD rs758199444, REVEL 0.17, ESM-1b 0.00
- p.Ser4dup, gnomAD 1-99851051-C-CAGT, CADD 19.10
- S4G (p.Ser4Gly), gnomAD 1-99851052-A-G, REVEL 0.07, ESM-1b 0.00
- S4C (p.Ser4Cys), gnomAD 1-99851052-A-T, REVEL 0.22, ESM-1b 0.00
- S4S (p.Ser4Ser), gnomAD 1-99852687-C-T, CADD 6.63
- K5E (p.Lys5Glu), cosmic curated COSV54048, REVEL 0.23, ESM-1b 0.00
- Q6* (p.Gln6Ter), rs113994126, ClinGen CA114753, ClinVar RCV000001153, ClinVar RCV000020373, CADD 37.00, Pathogenic
- Q6H (p.Gln6His), NCI-TCGA Cosmic COSV5405, cosmic curated COSV54050, gnomAD rs1469251200, REVEL 0.40, ESM-1b 0.00, Likely benign
- Q6E (p.Gln6Glu), gnomAD 1-99851058-C-G, REVEL 0.14, ESM-1b 0.00
- Q6Q (p.Gln6Gln), rs1469251200, gnomAD 1-99851060-G-A, CADD 12.70
- I7T (p.Ile7Thr), Ensembl rs1648908814, REVEL 0.19, ESM-1b 0.00
- I7V (p.Ile7Val), rs528647083, gnomAD 1-99852679-A-G, REVEL 0.05, ESM-1b 0.00
- I7S (p.Ile7Ser), gnomAD 1-99852680-T-G, REVEL 0.06, ESM-1b 0.00
- I7M (p.Ile7Met), rs1221707484, gnomAD 1-99852681-T-G, REVEL 0.04, ESM-1b 0.00
- I7F (p.Ile7Phe), rs377021040, gnomAD 1-99852688-A-T, REVEL 0.09, ESM-1b 0.00
- R8* (p.Arg8Ter), rs1057516870, ClinGen CA16040818, ClinVar RCV000410062, gnomAD rs1057516870, CADD 36.00, Pathogenic
- R8E (p.Arg8Glu), rs1215043175, gnomAD 1-99851063-TC-T, CADD 25.20
- R8R (p.Arg8Arg), gnomAD 1-99851064-C-A, CADD 14.30
- R8Q (p.Arg8Gln), gnomAD 1-99851065-G-A, REVEL 0.38, ESM-1b 0.00
- I9V (p.Ile9Val), rs1263396578, ClinGen CA341323520, ClinVar RCV000821038, TOPMed rs1263396578, REVEL 0.11, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- I9F (p.Ile9Phe), rs1648909681, gnomAD 1-99851065-GAA-G, CADD 27.10
- I9M (p.Ile9Met), gnomAD 1-99851069-T-G, REVEL 0.20, ESM-1b 0.00
- L10F (p.Leu10Phe), rs746137555, ClinGen CA27550768, ClinVar RCV000529938, ExAC rs746137555, REVEL 0.49, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- L10L (p.Leu10Leu), rs746137555, gnomAD 1-99851072-A-G, CADD 12.40
- L10I (p.Leu10Ile), gnomAD 1-99852694-T-A, REVEL 0.09, ESM-1b 0.00
- L10S (p.Leu10Ser), rs751263993, gnomAD 1-99852695-T-C, REVEL 0.11, ESM-1b 0.00
- L12* (p.Leu12Ter), gnomAD 1-99851075-TC-T, CADD 26.60
- L12Q (p.Leu12Gln), gnomAD 1-99851077-T-A, REVEL 0.86, ESM-1b 0.00
- L12R (p.Leu12Arg), gnomAD 1-99851077-T-G, REVEL 0.85, ESM-1b 0.00
- N13K (p.Asn13Lys), 1000Genomes rs138203039, ESP rs138203039, ExAC rs138203039, TOPMed rs138203039, REVEL 0.28, ESM-1b 0.00, Benign
- N13S (p.Asn13Ser), ExAC rs769898930, gnomAD rs769898930, REVEL 0.15, ESM-1b 0.00
- N13N (p.Asn13Asn), rs138203039, gnomAD 1-99851081-C-T, CADD 12.20
- E14K (p.Glu14Lys), rs749411087, ClinGen CA965999, ClinVar RCV001870592, ExAC rs749411087, REVEL 0.11, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- E14A (p.Glu14Ala), gnomAD 1-99851083-A-C, REVEL 0.21, ESM-1b 0.00
- M15I (p.Met15Ile), TOPMed rs1648912622, REVEL 0.21, ESM-1b 0.00
- M15V (p.Met15Val), TOPMed rs1648912301, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- E16V (p.Glu16Val), gnomAD rs1169609387, REVEL 0.45, ESM-1b 0.00
- E16K (p.Glu16Lys), gnomAD 1-99851088-G-A, REVEL 0.34, ESM-1b 0.00
- K17I (p.Lys17Ile), NCI-TCGA Cosmic COSV5404, cosmic curated COSV54047, NCI-TCGA Cosmic COSV5405, REVEL 0.36, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K17R (p.Lys17Arg), cosmic curated COSV54050, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Glycogen storage disease type III
- L18L (p.Leu18Leu), gnomAD 1-99851096-G-A, CADD 11.70
- E19G (p.Glu19Gly), Ensembl rs1486386303, REVEL 0.49, ESM-1b 0.00
- E19K (p.Glu19Lys), rs1418531169, gnomAD 1-99851095-TG-T, CADD 23.80
- E19E (p.Glu19Glu), rs1462906506, gnomAD 1-99851099-A-G, CADD 12.40
- K20N (p.Lys20Asn), rs769238334, ClinGen CA966000, ClinVar RCV001068317, ExAC rs769238334, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- K20T (p.Lys20Thr), gnomAD 1-99851101-A-C, REVEL 0.28, ESM-1b 0.00
- T21A (p.Thr21Ala), ExAC rs775012924, gnomAD rs775012924, REVEL 0.16, ESM-1b 0.00
- T21I (p.Thr21Ile), gnomAD 1-99851104-C-T, REVEL 0.24, ESM-1b 0.00
- L22F (p.Leu22Phe), rs762204351, ClinGen CA966002, ClinVar RCV001324287, ExAC rs762204351, REVEL 0.52, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- L22R (p.Leu22Arg), TOPMed rs1213647501, gnomAD rs1213647501, REVEL 0.79, ESM-1b 0.00
- L22V (p.Leu22Val), rs762204351, ClinGen CA966003, ClinVar RCV001924999, ExAC rs762204351, REVEL 0.38, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- L22P (p.Leu22Pro), gnomAD 1-99851107-T-C, REVEL 0.80, ESM-1b 0.91
- L22L (p.Leu22Leu), rs1648915915, gnomAD 1-99851108-C-T, CADD 14.30
- F23C (p.Phe23Cys), gnomAD rs1342547734, REVEL 0.44, ESM-1b 1.00, Uncertain significance
- F23L (p.Phe23Leu), TOPMed rs1648916089, NCI-TCGA Cosmic COSV5405, cosmic curated COSV54056, REVEL 0.31, ESM-1b 0.05, Variant assessed as somatic; moderate impact.
- F23Y (p.Phe23Tyr), rs1342547734, ClinGen CA341323821, ClinVar RCV001950039, gnomAD rs1342547734, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- F23V (p.Phe23Val), gnomAD 1-99851109-T-G, REVEL 0.34, ESM-1b 0.90
- F23F (p.Phe23Phe), rs1571206197, gnomAD 1-99851111-C-T, CADD 15.50
- R24I (p.Arg24Ile), rs772905291, ClinGen CA966004, ClinVar RCV001240973, ExAC rs772905291, REVEL 0.70, ESM-1b 1.00, Uncertain significance, Glycogen storage disease type III
- R24T (p.Arg24Thr), rs772905291, ClinGen CA966005, ClinVar RCV001067011, ExAC rs772905291, REVEL 0.56, ESM-1b 0.56, Uncertain significance, Glycogen storage disease type III
- R24G (p.Arg24Gly), gnomAD 1-99851112-A-G, REVEL 0.69, ESM-1b 1.00
- L25P (p.Leu25Pro), ExAC rs765881303, TOPMed rs765881303, gnomAD rs765881303, REVEL 0.80, ESM-1b 1.00
- L25R (p.Leu25Arg), ExAC rs765881303, TOPMed rs765881303, gnomAD rs765881303, REVEL 0.72, ESM-1b 1.00
- L25L (p.Leu25Leu), rs753243528, gnomAD 1-99851117-T-G, CADD 12.80
- E26K (p.Glu26Lys), NCI-TCGA Cosmic COSV5405, cosmic curated COSV54054, REVEL 0.23, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E26Q (p.Glu26Gln), rs781592803, ClinGen CA27550826, ClinVar RCV002952891, gnomAD rs781592803, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- E26N (p.Glu26Asn), gnomAD 1-99851117-TG-T, CADD 33.00
- E26E (p.Glu26Glu), rs143110759, gnomAD 1-99851120-A-G, CADD 10.10
- Q27Q (p.Gln27Gln), gnomAD 1-99851123-A-G, CADD 23.00
- G28E (p.Gly28Glu), rs752771103, ClinGen CA966055, ClinVar RCV001366400, ExAC rs752771103, REVEL 0.77, ESM-1b 0.49, Uncertain significance, Glycogen storage disease type III
- G28V (p.Gly28Val), gnomAD 1-99861503-G-T, REVEL 0.79, ESM-1b 1.00
- G28G (p.Gly28Gly), rs758514310, gnomAD 1-99861504-G-A, CADD 8.76
- Y29H (p.Tyr29His), NCI-TCGA Cosmic COSV9965, cosmic curated COSV99650, REVEL 0.21, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- Y29S (p.Tyr29Ser), Ensembl rs2101084414, REVEL 0.22, ESM-1b 0.00
- Y29Y (p.Tyr29Tyr), rs768278283, gnomAD 1-99861507-T-C, CADD 7.04
- Y29* (p.Tyr29Ter), gnomAD 1-99861507-T-G, CADD 37.00
- E30G (p.Glu30Gly), rs2101084442, ClinGen CA341328884, ClinVar RCV003091948, Ensembl rs2101084442, REVEL 0.52, ESM-1b 0.89, Uncertain significance, Glycogen storage disease type III
- E30K (p.Glu30Lys), rs932386485, ClinGen CA27560358, ClinVar RCV001364182, gnomAD rs932386485, REVEL 0.37, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- E30E (p.Glu30Glu), rs1485709719, gnomAD 1-99861510-G-A, CADD 5.86
- E30D (p.Glu30Asp), gnomAD 1-99861510-G-C, REVEL 0.43, ESM-1b 0.00
- L31P (p.Leu31Pro), gnomAD rs1650032026, REVEL 0.83, ESM-1b 1.00
- L31L (p.Leu31Leu), rs747615978, gnomAD 1-99861511-C-T, CADD 10.60
- L31R (p.Leu31Arg), gnomAD 1-99861512-T-G, REVEL 0.80, ESM-1b 1.00
- Q32* (p.Gln32Ter), rs786204489, ClinGen CA273996, ClinVar RCV000169156, ClinVar RCV006450041, CADD 39.00, Pathogenic
- Q32R (p.Gln32Arg), gnomAD 1-99861515-A-G, REVEL 0.27, ESM-1b 0.00
- Q32Q (p.Gln32Gln), gnomAD 1-99861516-G-A, CADD 7.69
- R34* (p.Arg34Ter), rs781580050, ClinGen CA273900, ClinVar RCV000169056, ClinVar RCV004745247, CADD 46.00, Pathogenic
- R34P (p.Arg34Pro), ExAC rs746265668, TOPMed rs746265668, gnomAD rs746265668, REVEL 0.48, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- R34L (p.Arg34Leu), rs746265668, gnomAD 1-99861521-G-T, REVEL 0.38, ESM-1b 1.00
- R34Q (p.Arg34Gln), rs746265668, gnomAD 1-99861521-G-A, REVEL 0.35, ESM-1b 0.12
- L35* (p.Leu35Ter), rs1057516567, ClinGen CA16040820, ClinVar RCV000410214, Ensembl rs1057516567, CADD 38.00, Pathogenic
- L35L (p.Leu35Leu), rs370307706, gnomAD 1-99861523-T-C, CADD 9.48
- G36D (p.Gly36Asp), ExAC rs748680148, gnomAD rs748680148, REVEL 0.46, ESM-1b 1.00
- G36R (p.Gly36Arg), rs746977667, ClinGen CA27560417, ClinVar RCV002695463, Ensembl rs746977667, REVEL 0.65, ESM-1b 1.00, Uncertain significance, Glycogen storage disease type III
- G36S (p.Gly36Ser), rs746977667, ClinGen CA341328994, ClinVar RCV001344016, Ensembl rs746977667, REVEL 0.54, ESM-1b 1.00, Uncertain significance, Glycogen storage disease type III
- G36G (p.Gly36Gly), rs374064723, gnomAD 1-99861528-C-T, CADD 9.55
- P37Q (p.Pro37Gln), gnomAD 1-99852673-GC-G, CADD 0.50
- P37S (p.Pro37Ser), rs780701177, gnomAD 1-99852676-C-T, REVEL 0.05, ESM-1b 0.44
- P37P (p.Pro37Pro), rs774144631, gnomAD 1-99861531-A-C, CADD 9.49
- T38A (p.Thr38Ala), rs35278779, ClinGen CA966066, ClinVar RCV000241781, ClinVar RCV000675317, REVEL 0.16, ESM-1b 0.00, Benign/Likely benign, not specified; not provided; Glycogen storage disease type III
- T38N (p.Thr38Asn), Ensembl rs1557746521, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- T38P (p.Thr38Pro), 1000Genomes rs35278779, ESP rs35278779, ExAC rs35278779, TOPMed rs35278779, REVEL 0.29, ESM-1b 0.28, Benign
- T38S (p.Thr38Ser), rs35278779, ClinGen CA341329061, ClinVar RCV003518436, 1000Genomes rs35278779, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- T38I (p.Thr38Ile), gnomAD 1-99861533-C-T, REVEL 0.17, ESM-1b 0.33
- L39I (p.Leu39Ile), TOPMed rs902018012, gnomAD rs902018012, REVEL 0.23, ESM-1b 1.00
- L39S (p.Leu39Ser), gnomAD 1-99861536-T-C, REVEL 0.42, ESM-1b 1.00
- Q40E (p.Gln40Glu), ExAC rs771961377, TOPMed rs771961377, gnomAD rs771961377, REVEL 0.17, ESM-1b 0.00, Pathogenic
- Q40P (p.Gln40Pro), gnomAD rs1364402397, REVEL 0.48, ESM-1b 0.32
- Q40R (p.Gln40Arg), gnomAD rs1364402397, REVEL 0.41, ESM-1b 0.00
- Q40* (p.Gln40Ter), rs771961377, gnomAD 1-99861538-C-T, CADD 39.00
- Q40Q (p.Gln40Gln), rs371655853, gnomAD 1-99861540-G-A, CADD 4.82
- Q40H (p.Gln40His), gnomAD 1-99861540-G-C, REVEL 0.15, ESM-1b 0.00
- G41* (p.Gly41Ter), rs1553183178, ClinGen CA341329109, ClinVar RCV000668290, Ensembl rs1553183178, CADD 39.00, Likely pathogenic
- G41E (p.Gly41Glu), rs1468075770, ClinGen CA341329115, ClinVar RCV002895756, ClinVar RCV002908516, REVEL 0.65, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; Glycogen storage disease type III
- G41A (p.Gly41Ala), gnomAD 1-99861542-G-C, REVEL 0.32, ESM-1b 1.00
- G41G (p.Gly41Gly), gnomAD 1-99861543-A-G, CADD 9.34
- K42R (p.Lys42Arg), TOPMed rs1405236727, REVEL 0.19, ESM-1b 0.00
- A43G (p.Ala43Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A43S (p.Ala43Ser), gnomAD 1-99852673-G-T, REVEL 0.12, ESM-1b 0.00
- A43A (p.Ala43Ala), gnomAD 1-99861549-A-C, CADD 11.20
- V44A (p.Val44Ala), cosmic curated COSV10439, REVEL 0.29, ESM-1b 0.55
- V44G (p.Val44Gly), ExAC rs765493514, TOPMed rs765493514, gnomAD rs765493514, REVEL 0.48, ESM-1b 1.00, Uncertain significance, AGL-related disorder
- V44V (p.Val44Val), rs1317045410, gnomAD 1-99861552-T-A, CADD 6.63
- T45N (p.Thr45Asn), gnomAD 1-99861552-T-TA, CADD 26.40
- T45S (p.Thr45Ser), gnomAD 1-99861554-C-G, REVEL 0.06, ESM-1b 0.00
- T45T (p.Thr45Thr), rs752964406, gnomAD 1-99861555-C-G, CADD 4.24
- V46L (p.Val46Leu), rs762935611, ClinGen CA27560501, ClinVar RCV002962401, ClinVar RCV004068286, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III; Inborn genetic diseases
- V46M (p.Val46Met), rs762935611, ClinGen CA966072, NCI-TCGA Cosmic COSV5405, cosmic curated COSV54054, REVEL 0.12, ESM-1b 0.73, Uncertain significance, Glycogen storage disease type III; not provided
- Y47* (p.Tyr47Ter), rs1057517347, ClinGen CA16040821, ClinVar RCV000409607, Ensembl rs1057517347, Likely pathogenic
- Y47Y (p.Tyr47Tyr), rs1650039603, gnomAD 1-99861561-T-C, CADD 8.31
- T48A (p.Thr48Ala), NCI-TCGA Cosmic COSV5405, cosmic curated COSV54052, REVEL 0.24, ESM-1b 0.17, Variant assessed as somatic; moderate impact.
- T48R (p.Thr48Arg), gnomAD 1-99861563-C-G, REVEL 0.39, ESM-1b 1.00
- N49D (p.Asn49Asp), rs751982392, ClinGen CA966073, cosmic curated COSV10960, ClinVar RCV001921087, REVEL 0.50, ESM-1b 1.00, Uncertain significance, Glycogen storage disease type III
- N49H (p.Asn49His), cosmic curated COSV10731, REVEL 0.56, ESM-1b 1.00
- P51S (p.Pro51Ser), rs367591347, ClinGen CA966074, ClinVar RCV001370753, ESP rs367591347, REVEL 0.56, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- P51P (p.Pro51Pro), rs1263017347, gnomAD 1-99861573-A-G, CADD 11.10
- F52R (p.Phe52Arg), gnomAD 1-99861572-CATTTC, CADD 31.00
- P53S (p.Pro53Ser), NCI-TCGA Cosmic COSV5406, cosmic curated COSV54060, REVEL 0.02, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G54T (p.Gly54Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G54* (p.Gly54Ter), cosmic curated COSV54058, CADD 40.00
- G54E (p.Gly54Glu), gnomAD rs1266947418, REVEL 0.31, ESM-1b 0.00
- G54R (p.Gly54Arg), rs781683317, ClinGen CA966075, ClinVar RCV003005271, ClinVar RCV004978463, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Glycogen storage disease type III
- E55* (p.Glu55Ter), NCI-TCGA Cosmic COSV9964, cosmic curated COSV99648, Variant assessed as somatic; high impact.
- E55V (p.Glu55Val), gnomAD 1-99861584-A-T, REVEL 0.13, ESM-1b 0.00
- T56A (p.Thr56Ala), cosmic curated COSV54050, REVEL 0.04, ESM-1b 0.00
- T56S (p.Thr56Ser), gnomAD 1-99861586-A-T, REVEL 0.03, ESM-1b 0.00
- T56I (p.Thr56Ile), gnomAD 1-99861587-C-T, REVEL 0.11, ESM-1b 0.00
- T56T (p.Thr56Thr), rs750733055, gnomAD 1-99861588-A-G, CADD 7.15
- F57L (p.Phe57Leu), rs756476562, ClinGen CA966077, ClinVar RCV001964324, ExAC rs756476562, REVEL 0.58, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- F57* (p.Phe57Ter), rs1201531708, gnomAD 1-99861587-CAT-C, CADD 29.20
- N58N (p.Asn58Asn), rs779677453, gnomAD 1-99861594-T-C, CADD 9.39
- R59I (p.Arg59Ile), cosmic curated COSV99648, REVEL 0.65, ESM-1b 0.00
- R59R (p.Arg59Arg), rs2101084841, gnomAD 1-99861597-A-G, CADD 10.80
- K61T (p.Lys61Thr), ExAC rs749028648, gnomAD rs749028648, REVEL 0.05, ESM-1b 0.00
- K61E (p.Lys61Glu), gnomAD 1-99861601-A-G, REVEL 0.13, ESM-1b 0.00
- F62I (p.Phe62Ile), cosmic curated COSV54057, REVEL 0.44, ESM-1b 0.00
- F62L (p.Phe62Leu), rs146234738, ClinGen CA966080, ClinVar RCV001349536, ExAC rs146234738, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- R63C (p.Arg63Cys), rs778524671, ClinGen CA966081, cosmic curated COSV10513, ClinVar RCV001216589, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Glycogen storage disease type III
- R63H (p.Arg63His), rs199958942, ClinGen CA966082, cosmic curated COSV54053, ClinVar RCV001242350, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III; Inborn genetic diseases
- R63L (p.Arg63Leu), cosmic curated COSV54061, REVEL 0.20, ESM-1b 0.00
- S64Y (p.Ser64Tyr), gnomAD 1-99861611-C-A, REVEL 0.07, ESM-1b 0.00
- L65V (p.Leu65Val), rs772086117, ClinGen CA966083, ClinVar RCV000538009, ExAC rs772086117, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Glycogen storage disease type III
- L65L (p.Leu65Leu), rs772086117, gnomAD 1-99861613-C-T, CADD 4.83
- L65P (p.Leu65Pro), gnomAD 1-99861614-T-C, REVEL 0.59, ESM-1b 1.00
- D66Y (p.Asp66Tyr), gnomAD 1-99861616-G-T, REVEL 0.05, ESM-1b 0.00
- D66V (p.Asp66Val), gnomAD 1-99861617-A-T, REVEL 0.04, ESM-1b 0.00
- D66D (p.Asp66Asp), rs773291730, gnomAD 1-99861618-T-C, CADD 6.24
- W67L (p.Trp67Leu), cosmic curated COSV54053, REVEL 0.39, ESM-1b 0.98
- W67F (p.Trp67Phe), gnomAD 1-99861619-T-TTTC, CADD 32.00
- W67* (p.Trp67Ter), gnomAD 1-99861620-G-A, CADD 42.00
Public AGL analysis runs
- AGL analysis run — AGL (2,357 variants) — completed 2026-10-28