SQSTM1 (Sequestosome-1) variants and mutations
SQSTM1 (also known as Sequestosome-1) is a human protein-coding gene encoding a sequestosome-1 protein. SQSTM1, also called p62, is an adapter that connects ubiquitinated cargo to autophagosomes for selective autophagy. It also influences the NRF2 cytoprotective pathway and endosomal organization, and SQSTM1 variants are associated with Paget disease of bone and neurodegeneration. This analysis covers 987 SQSTM1 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes amyotrophic lateral sclerosis, behavioral variant of frontotemporal dementia, and frontotemporal dementia with motor neuron disease. Example SQSTM1 variants include M1?, M1I, and M1K.
Variant analysis overview
- Gene: SQSTM1
- Protein: Sequestosome-1
- UniProt accession: Q13501
- Organism: Homo sapiens
- Variants analyzed: 987
- Variant scope: all variants
- Completed: 2026-06-25
Variant and mutation evidence
- Variant composition: 726 unspecified-consequence records; 155 missense variants; 63 synonymous variants; 17 frameshift variants; 10 stop-gained variants; 2 in-frame deletions; 2 splice-region variants; 2 stop lost; 1 stop retained variant; 1 splice acceptor variant; 7 substitution
- Prediction scores: 927 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: amyotrophic lateral sclerosis, behavioral variant of frontotemporal dementia, frontotemporal dementia with motor neuron disease, bone Paget disease, neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Distal myopathy, Nonaka type, frontotemporal dementia and/or amyotrophic lateral sclerosis 1, osteosarcoma, cancer, neurodegenerative disease, distal myopathy, Welander type, spastic paraplegia-Paget disease of bone syndrome.
Protein structure and variant hotspots
- Protein features: 2 domains; 8 binding sites; 25 post-translational modification sites.
- Structural context: 476 variants have structural context.
- PTM context: 48 variants overlap post-translational modification sites.
- Experimental data: 52 protein positions have experimental scores. Source: SQSTM1 Zinc finger, ZZ-type domain domainome 1.0, SQSTM1 Sequestosome-1, UBA domain domainome 1.0.
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, PharmGKB, MaveDB, LitVar.
Notable SQSTM1 variants
Examples include M1?, M1I, M1K, A2E, A2G, A2S, A2V, A2T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs1302810798, ClinGen CA362441988, NCI-TCGA Cosmic COSV6243, ClinVar RCV001319264, MetaLR 0.42, MetaSVM -0.30, Likely pathogenic
- M1I (p.Met1Ile), rs1309887153, ClinGen CA362441994, ClinVar RCV001977165, ClinGen CA362441992, MetaLR 0.41, MetaSVM -0.21, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- M1K (p.Met1Lys), rs886039780, ClinGen CA10602465, ClinVar RCV000256203, MetaLR 0.37, MetaSVM -0.44, Pathogenic, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- A2E (p.Ala2Glu), 1000Genomes rs377371202, ESP rs377371202, ExAC rs377371202, TOPMed rs377371202, REVEL 0.03, CADD 16.90, Uncertain significance
- A2G (p.Ala2Gly), 1000Genomes rs377371202, ESP rs377371202, ExAC rs377371202, TOPMed rs377371202, REVEL 0.06, CADD 22.40, Uncertain significance
- A2S (p.Ala2Ser), TOPMed rs1208662086, gnomAD rs1208662086, REVEL 0.02, CADD 18.90
- A2V (p.Ala2Val), rs377371202, 1000Genomes rs377371202, ESP rs377371202, ExAC rs377371202, REVEL 0.04, CADD 22.00, Uncertain significance, not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Pa
- A2T (p.Ala2Thr), gnomAD 5-179820940-G-A, REVEL 0.04, CADD 22.60
- A2P (p.Ala2Pro), gnomAD 5-179820940-G-C, REVEL 0.08, CADD 21.10
- A2A (p.Ala2Ala), gnomAD 5-179820942-G-C, CADD 12.50
- S3* (p.Ser3Ter), ExAC rs777501273, gnomAD rs777501273, CADD 37.00, Uncertain significance
- S3L (p.Ser3Leu), rs777501273, ClinGen CA3600355, NCI-TCGA Cosmic COSV6243, cosmic curated COSV62434, REVEL 0.05, CADD 23.30, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- S3S (p.Ser3Ser), rs527309027, gnomAD 5-179820945-G-A, CADD 10.70
- L4F (p.Leu4Phe), gnomAD 5-179820946-C-T, REVEL 0.06, CADD 15.90
- L4I (p.Leu4Ile), gnomAD 5-179820946-C-A, REVEL 0.04, CADD 19.20
- L4P (p.Leu4Pro), gnomAD 5-179820947-T-C, REVEL 0.37, CADD 27.60
- L4L (p.Leu4Leu), gnomAD 5-179820948-C-T, CADD 11.30
- T5A (p.Thr5Ala), gnomAD rs1488103357, REVEL 0.27, CADD 23.80
- T5I (p.Thr5Ile), TOPMed rs1050354862, REVEL 0.31, CADD 25.20, Uncertain significance
- T5N (p.Thr5Asn), rs1050354862, ClinGen CA362442012, ClinVar RCV002252446, TOPMed rs1050354862, REVEL 0.21, CADD 23.00, Uncertain significance, See cases
- T5T (p.Thr5Thr), gnomAD 5-179820951-C-A, CADD 3.02
- V6L (p.Val6Leu), rs778461636, ClinGen CA362442014, ClinVar RCV001318936, ExAC rs778461636, REVEL 0.21, CADD 23.70, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- V6M (p.Val6Met), gnomAD 5-179820952-G-A, REVEL 0.28, CADD 26.80
- V6A (p.Val6Ala), gnomAD 5-179820953-T-C, REVEL 0.35, CADD 27.80
- V6V (p.Val6Val), gnomAD 5-179820954-G-T, CADD 13.70
- K7E (p.Lys7Glu), gnomAD 5-179820955-A-G, REVEL 0.43, CADD 25.00
- K7R (p.Lys7Arg), gnomAD 5-179820956-A-G, REVEL 0.34, CADD 25.30
- K7M (p.Lys7Met), gnomAD 5-179820956-A-T, REVEL 0.53, CADD 25.50
- K7K (p.Lys7Lys), gnomAD 5-179820957-G-A, CADD 14.20
- K7N (p.Lys7Asn), gnomAD 5-179820957-G-T, REVEL 0.16, CADD 23.50
- A8T (p.Ala8Thr), rs745545107, ExAC rs745545107, TOPMed rs745545107, gnomAD rs745545107, REVEL 0.28, CADD 26.00, Uncertain significance, Inborn genetic diseases
- A8V (p.Ala8Val), Ensembl rs1757750793, REVEL 0.29, CADD 28.00
- A8S (p.Ala8Ser), gnomAD 5-179820958-G-T, REVEL 0.26, CADD 25.30
- A8D (p.Ala8Asp), gnomAD 5-179820959-C-A, REVEL 0.59, CADD 28.60
- A8A (p.Ala8Ala), rs1175359430, gnomAD 5-179820960-C-T, CADD 15.90
- Y9C (p.Tyr9Cys), rs1295820640, TOPMed rs1295820640, gnomAD rs1295820640, ClinGen CA362442036, REVEL 0.49, CADD 32.00, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Y9H (p.Tyr9His), rs1757750915, gnomAD rs1757750915, ClinGen CA362442033, ClinVar RCV002595489, REVEL 0.54, CADD 32.00, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- Y9T (p.Tyr9Thr), gnomAD 5-179820960-CT-C, CADD 29.60
- Y9Y (p.Tyr9Tyr), gnomAD 5-179820963-C-T, CADD 11.70
- Y9* (p.Tyr9Ter), gnomAD 5-179820963-C-G, CADD 36.00
- L10F (p.Leu10Phe), ExAC rs771845079, TOPMed rs771845079, gnomAD rs771845079, REVEL 0.41, CADD 28.70
- L10V (p.Leu10Val), ExAC rs771845079, TOPMed rs771845079, gnomAD rs771845079, REVEL 0.24, CADD 26.40
- L10I (p.Leu10Ile), gnomAD 5-179820964-C-A, REVEL 0.25, CADD 27.50
- L10H (p.Leu10His), gnomAD 5-179820965-T-A, REVEL 0.62, CADD 32.00
- L10P (p.Leu10Pro), gnomAD 5-179820965-T-C, REVEL 0.74, CADD 32.00
- L10L (p.Leu10Leu), gnomAD 5-179820966-T-C, CADD 10.50
- L11V (p.Leu11Val), ExAC rs777193579, TOPMed rs777193579, gnomAD rs777193579, SIFT 0.08, Likely benign
- L11M (p.Leu11Met), gnomAD 5-179820967-C-A, REVEL 0.11, CADD 23.50
- L11L (p.Leu11Leu), rs777193579, gnomAD 5-179820967-C-T, CADD 15.30
- L11P (p.Leu11Pro), gnomAD 5-179820968-T-C, REVEL 0.49, CADD 32.00
- G12D (p.Gly12Asp), Ensembl rs866832054, cosmic curated COSV10889, REVEL 0.48, CADD 32.00, Uncertain significance
- G12R (p.Gly12Arg), rs748465743, ClinGen CA3600362, ClinVar RCV002927388, ExAC rs748465743, REVEL 0.34, CADD 26.40, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- G12V (p.Gly12Val), rs866832054, ClinGen CA362442072, ClinVar RCV001224713, ClinVar RCV004778014, REVEL 0.49, CADD 32.00, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- G12A (p.Gly12Ala), gnomAD 5-179820968-TG-T, CADD 26.40
- G12C (p.Gly12Cys), gnomAD 5-179820970-G-T, REVEL 0.50, CADD 32.00
- G12S (p.Gly12Ser), gnomAD 5-179820970-G-A, REVEL 0.24, CADD 29.80
- G12G (p.Gly12Gly), rs770428754, gnomAD 5-179820972-C-G, CADD 14.20
- K13E (p.Lys13Glu), rs2480198674, ClinGen CA362442076, ClinVar RCV003799252, REVEL 0.25, CADD 25.40, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- K13M (p.Lys13Met), gnomAD 5-179820974-A-T, REVEL 0.33, CADD 32.00
- K13R (p.Lys13Arg), gnomAD 5-179820974-A-G, REVEL 0.18, CADD 25.70
- K13N (p.Lys13Asn), gnomAD 5-179820975-G-T, REVEL 0.11, CADD 23.50
- K13K (p.Lys13Lys), rs1007964808, gnomAD 5-179820975-G-A, CADD 14.10
- E14* (p.Glu14Ter), gnomAD rs1405208101, CADD 41.00
- E14Q (p.Glu14Gln), gnomAD 5-179820976-G-C, REVEL 0.19, CADD 29.90
- E14D (p.Glu14Asp), gnomAD 5-179820978-G-T, REVEL 0.03, CADD 19.80
- E14E (p.Glu14Glu), gnomAD 5-179820978-G-A, CADD 14.60
- D15G (p.Asp15Gly), Ensembl rs1757751748, REVEL 0.15, CADD 23.70
- D15N (p.Asp15Asn), rs1040794731, ClinGen CA133094839, ClinVar RCV003795513, TOPMed rs1040794731, REVEL 0.12, CADD 23.90, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- D15Y (p.Asp15Tyr), gnomAD 5-179820979-G-T, REVEL 0.24, CADD 26.10
- D15V (p.Asp15Val), gnomAD 5-179820980-A-T, REVEL 0.14, CADD 24.80
- D15D (p.Asp15Asp), rs1757751804, gnomAD 5-179820981-C-T, CADD 7.14
- D15E (p.Asp15Glu), gnomAD 5-179820981-C-A, REVEL 0.04, CADD 0.15
- A16S (p.Ala16Ser), ExAC rs773552098, TOPMed rs773552098, gnomAD rs773552098, REVEL 0.04, CADD 19.30, Uncertain significance, in FTDALS3
- A16T (p.Ala16Thr), rs773552098, ExAC rs773552098, TOPMed rs773552098, gnomAD rs773552098, REVEL 0.04, CADD 21.70, Uncertain significance, SQSTM1-related disorder; Inborn genetic diseases; Frontotemporal dementia and/or
- A16V (p.Ala16Val), rs1554162295, UniProt VAR 073899, Ensembl rs1554162295, REVEL 0.69, CADD 20.50, Pathogenic, in FTDALS3
- A16E (p.Ala16Glu), gnomAD 5-179820983-C-A, REVEL 0.28, CADD 20.60
- A16A (p.Ala16Ala), gnomAD 5-179820984-G-T, CADD 14.40
- A17V (p.Ala17Val), rs141502868, ClinGen CA3600365, cosmic curated COSV10065, ClinVar RCV001155397, REVEL 0.07, CADD 22.30, Uncertain significance, Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral scle
- A17S (p.Ala17Ser), gnomAD 5-179820985-G-T, REVEL 0.03, CADD 16.20
- A17T (p.Ala17Thr), gnomAD 5-179820985-G-A, REVEL 0.06, CADD 17.00
- A17A (p.Ala17Ala), gnomAD 5-179820987-G-T, CADD 14.60
- R18C (p.Arg18Cys), gnomAD rs1426997451, REVEL 0.25, CADD 32.00
- R18H (p.Arg18His), rs902195752, ClinGen CA133094894, ClinVar RCV001053835, TOPMed rs902195752, REVEL 0.13, CADD 32.00, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- R18S (p.Arg18Ser), gnomAD 5-179820988-C-A, REVEL 0.16, CADD 25.00
- R18L (p.Arg18Leu), gnomAD 5-179820989-G-T, REVEL 0.20, CADD 25.80
- R18R (p.Arg18Arg), gnomAD 5-179820990-C-T, CADD 16.20
- E19D (p.Glu19Asp), TOPMed rs1582002994, REVEL 0.35, CADD 26.30, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- E19G (p.Glu19Gly), gnomAD rs1218111980, REVEL 0.63, CADD 32.00
- E19* (p.Glu19Ter), gnomAD 5-179820991-G-T, CADD 40.00
- E19K (p.Glu19Lys), gnomAD 5-179820991-G-A, REVEL 0.67, CADD 32.00
- E19E (p.Glu19Glu), rs1582002994, gnomAD 5-179820993-G-A, CADD 14.80
- I20T (p.Ile20Thr), Ensembl rs1426922954, SIFT 0.01
- I20V (p.Ile20Val), gnomAD 5-179820994-A-G, REVEL 0.09, CADD 24.50
- R21G (p.Arg21Gly), gnomAD 5-179820997-C-G, REVEL 0.55, CADD 31.00
- R21C (p.Arg21Cys), gnomAD 5-179820997-C-T, REVEL 0.37, CADD 27.40
- R21S (p.Arg21Ser), gnomAD 5-179820997-C-A, REVEL 0.54, CADD 30.00
- R21H (p.Arg21His), gnomAD 5-179820998-G-A, REVEL 0.65, CADD 32.00
- R21L (p.Arg21Leu), gnomAD 5-179820998-G-T, REVEL 0.57, CADD 32.00
- R21R (p.Arg21Arg), gnomAD 5-179820999-C-T, CADD 16.20
- R22C (p.Arg22Cys), gnomAD 5-179821000-C-T, REVEL 0.44, CADD 32.00
- R22S (p.Arg22Ser), gnomAD 5-179821000-C-A, REVEL 0.41, CADD 29.60
- R22L (p.Arg22Leu), gnomAD 5-179821001-G-T, REVEL 0.66, CADD 32.00
- R22H (p.Arg22His), gnomAD 5-179821001-G-A, REVEL 0.70, CADD 32.00
- F23I (p.Phe23Ile), gnomAD 5-179821003-T-A, REVEL 0.42, CADD 32.00
- F23L (p.Phe23Leu), gnomAD 5-179821003-T-C, REVEL 0.45, CADD 32.00
- F23S (p.Phe23Ser), gnomAD 5-179821004-T-C, REVEL 0.59, CADD 32.00
- F23F (p.Phe23Phe), rs766419538, gnomAD 5-179821005-C-T, CADD 16.70
- S24G (p.Ser24Gly), gnomAD rs1242898002, REVEL 0.10, CADD 23.10, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- S24N (p.Ser24Asn), gnomAD 5-179821007-G-A, REVEL 0.05, CADD 23.60
- S24I (p.Ser24Ile), gnomAD 5-179821007-G-T, REVEL 0.12, CADD 24.00
- S24S (p.Ser24Ser), rs774460525, gnomAD 5-179821008-C-T, CADD 16.30
- S24R (p.Ser24Arg), gnomAD 5-179821008-C-A, REVEL 0.18, CADD 24.10
- F25C (p.Phe25Cys), Ensembl rs1757752863, REVEL 0.29, CADD 31.00
- F25L (p.Phe25Leu), Ensembl rs1032261596, NCI-TCGA Cosmic COSV1006, REVEL 0.10, CADD 22.40, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- F25del (p.Phe25del), gnomAD 5-179821007-GCTT-, CADD 21.80
- F25F (p.Phe25Phe), gnomAD 5-179821011-C-T, CADD 15.90
- C26R (p.Cys26Arg), TOPMed rs1172565628, gnomAD rs1172565628, REVEL 0.04, CADD 22.90, Uncertain significance, Inborn genetic diseases
- C26F (p.Cys26Phe), gnomAD 5-179821013-G-T, REVEL 0.09, CADD 23.30
- C26Y (p.Cys26Tyr), gnomAD 5-179821013-G-A, REVEL 0.09, CADD 23.20
- C26* (p.Cys26Ter), gnomAD 5-179821014-C-A, CADD 35.00
- C26C (p.Cys26Cys), rs2113479661, gnomAD 5-179821014-C-T, CADD 13.50
- C27F (p.Cys27Phe), Ensembl rs2113479666, REVEL 0.02, CADD 14.70
- C27R (p.Cys27Arg), gnomAD 5-179821015-T-C, REVEL 0.03, CADD 19.40
- C27Y (p.Cys27Tyr), gnomAD 5-179821016-G-A, REVEL 0.01, CADD 18.20
- C27* (p.Cys27Ter), gnomAD 5-179821017-C-A, CADD 35.00
- C27C (p.Cys27Cys), gnomAD 5-179821017-C-T, CADD 13.10
- S28R (p.Ser28Arg), rs759823891, ExAC rs759823891, TOPMed rs759823891, gnomAD rs759823891, REVEL 0.04, CADD 23.10, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- S28G (p.Ser28Gly), gnomAD 5-179821018-A-G, REVEL 0.06, CADD 22.70
- S28I (p.Ser28Ile), gnomAD 5-179821019-G-T, REVEL 0.12, CADD 24.10
- S28N (p.Ser28Asn), gnomAD 5-179821019-G-A, REVEL 0.04, CADD 22.30
- S28S (p.Ser28Ser), rs759823891, gnomAD 5-179821020-C-T, CADD 12.90
- P29A (p.Pro29Ala), ExAC rs752506754, TOPMed rs752506754, gnomAD rs752506754, SIFT 0.20, Uncertain significance
- P29L (p.Pro29Leu), Ensembl rs1012113887, REVEL 0.04, CADD 17.60, Uncertain significance
- P29R (p.Pro29Arg), rs1012113887, ClinGen CA133094938, ClinVar RCV000535902, Ensembl rs1012113887, REVEL 0.06, CADD 21.20, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- P29S (p.Pro29Ser), rs752506754, ClinGen CA3600370, cosmic curated COSV62434, ClinVar RCV001237319, REVEL 0.03, CADD 12.90, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- P29T (p.Pro29Thr), gnomAD 5-179821021-C-A, REVEL 0.03, CADD 15.90
- P29H (p.Pro29His), gnomAD 5-179821022-C-A, REVEL 0.05, CADD 23.00
- P29P (p.Pro29Pro), rs755859379, gnomAD 5-179821023-C-G, CADD 6.44
- E30K (p.Glu30Lys), rs764111892, ClinGen CA3600372, ClinVar RCV001916488, 1000Genomes rs764111892, REVEL 0.04, CADD 22.70, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- E30Q (p.Glu30Gln), 1000Genomes rs764111892, ExAC rs764111892, TOPMed rs764111892, gnomAD rs764111892, SIFT 0.44, Uncertain significance
- E30S (p.Glu30Ser), gnomAD 5-179821019-GC-G, CADD 22.80
- E30* (p.Glu30Ter), gnomAD 5-179821024-G-T, CADD 35.00
- E30E (p.Glu30Glu), gnomAD 5-179821026-G-A, CADD 9.98
- E30D (p.Glu30Asp), gnomAD 5-179821026-G-T, REVEL 0.06, CADD 15.10
- P31H (p.Pro31His), NCI-TCGA TCGA novel, REVEL 0.14, CADD 23.20, Variant assessed as somatic; moderate impact.
- P31L (p.Pro31Leu), gnomAD rs1441503947, REVEL 0.08, CADD 18.50
- P31S (p.Pro31Ser), ExAC rs753766210, gnomAD rs753766210, REVEL 0.02, CADD 15.20
- P31T (p.Pro31Thr), gnomAD 5-179821027-C-A, REVEL 0.01, CADD 18.20
- P31R (p.Pro31Arg), gnomAD 5-179821028-C-G, REVEL 0.10, CADD 22.00
- P31P (p.Pro31Pro), rs1222624393, gnomAD 5-179821029-T-C, CADD 6.93
- E32K (p.Glu32Lys), gnomAD 5-179821030-G-A, REVEL 0.02, CADD 22.80
- E32* (p.Glu32Ter), gnomAD 5-179821030-G-T, CADD 37.00
- E32G (p.Glu32Gly), gnomAD 5-179821031-A-G, REVEL 0.05, CADD 24.90
- E32V (p.Glu32Val), gnomAD 5-179821031-A-T, REVEL 0.05, CADD 24.50
- E32D (p.Glu32Asp), gnomAD 5-179821032-G-T, REVEL 0.02, CADD 18.50
- E32E (p.Glu32Glu), gnomAD 5-179821032-G-A, CADD 12.40
- A33G (p.Ala33Gly), rs200396166, ESP rs200396166, ExAC rs200396166, TOPMed rs200396166, REVEL 0.05, CADD 22.50, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- A33S (p.Ala33Ser), rs1156716975, TOPMed rs1156716975, gnomAD rs1156716975, ClinGen CA362442354, REVEL 0.04, CADD 20.80, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- A33T (p.Ala33Thr), rs1156716975, TOPMed rs1156716975, gnomAD rs1156716975, ClinGen CA362442352, REVEL 0.03, CADD 21.60, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- A33V (p.Ala33Val), rs200396166, ESP rs200396166, ExAC rs200396166, TOPMed rs200396166, REVEL 0.05, CADD 18.10, Conflicting interpretations, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- A33E (p.Ala33Glu), gnomAD 5-179821034-C-A, REVEL 0.05, CADD 21.80
- A33A (p.Ala33Ala), gnomAD 5-179821035-G-A, CADD 6.72
- E34G (p.Glu34Gly), Ensembl rs1757754274, REVEL 0.19, CADD 25.00
- p.Glu34 Ala39del, rs1757753971, gnomAD 5-179821031-AGGCG, CADD 21.10
- E34* (p.Glu34Ter), gnomAD 5-179821036-G-T, CADD 40.00
- E34A (p.Glu34Ala), gnomAD 5-179821037-A-C, REVEL 0.15, CADD 23.10
- E34E (p.Glu34Glu), rs1424993028, gnomAD 5-179821038-A-G, CADD 10.70
- A35G (p.Ala35Gly), rs2480199053, ClinGen CA362442369, ClinVar RCV002302974, REVEL 0.07, CADD 19.60, Uncertain significance, Paget disease of bone 2, early-onset; Frontotemporal dementia and/or amyotrophic
- A35T (p.Ala35Thr), gnomAD rs1166539773, REVEL 0.06, CADD 23.50, Uncertain significance, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- A35V (p.Ala35Val), rs2480199053, ClinGen CA362442370, ClinVar RCV004527939, REVEL 0.06, CADD 22.20, Uncertain significance, SQSTM1-related disorder
- A35P (p.Ala35Pro), gnomAD 5-179821036-GA-G, CADD 26.10
- A35S (p.Ala35Ser), gnomAD 5-179821039-G-T, REVEL 0.04, CADD 23.00
- A35D (p.Ala35Asp), gnomAD 5-179821040-C-A, REVEL 0.06, CADD 22.90
- A35A (p.Ala35Ala), rs1403206596, gnomAD 5-179821041-C-T, CADD 13.40
- E36K (p.Glu36Lys), rs376158712, 1000Genomes rs376158712, ESP rs376158712, ExAC rs376158712, REVEL 0.06, CADD 22.90, Likely benign, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- E36Q (p.Glu36Gln), 1000Genomes rs376158712, ESP rs376158712, ExAC rs376158712, TOPMed rs376158712, SIFT 0.29, Likely benign
- E36G (p.Glu36Gly), gnomAD 5-179821043-A-G, REVEL 0.06, CADD 23.80
- E36D (p.Glu36Asp), gnomAD 5-179821044-G-T, REVEL 0.03, CADD 16.20
- E36E (p.Glu36Glu), rs1582003140, gnomAD 5-179821044-G-A, CADD 12.40
- A37G (p.Ala37Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
Public SQSTM1 analysis runs
- SQSTM1 analysis run — SQSTM1 (987 variants) — completed 2026-06-25