INS (Insulin) variants and mutations
INS (also known as Insulin) is a human protein-coding gene encoding an insulin protein. After processing to insulin, it lowers blood glucose by promoting cellular glucose uptake, glycogen and lipid synthesis, and suppression of hepatic glucose production. Pathogenic variants can cause neonatal diabetes, maturity-onset diabetes of the young, or hyperproinsulinemia depending on their effect on folding and secretion. This analysis covers 344 INS variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes diabetes mellitus, permanent neonatal 4, hyperproinsulinemia, and MODY. Example INS variants include M1?, M1I, and M1V.
Variant analysis overview
- Gene: INS
- Protein: Insulin
- UniProt accession: P01308
- Organism: Homo sapiens
- Variants analyzed: 344
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 172 unspecified-consequence records; 1 incomplete terminal codon variant; 59 synonymous variants; 8 stop-gained variants; 85 missense variants; 8 frameshift variants; 1 stop lost; 3 splice-region variants; 1 in-frame insertions; 2 in-frame deletions; 4 substitution
- Prediction scores: 258 variants have prediction scores (75% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: diabetes mellitus, permanent neonatal 4, hyperproinsulinemia, MODY, type 1 diabetes mellitus, permanent neonatal diabetes mellitus, maturity-onset diabetes of the young type 10, diabetes mellitus, monogenic diabetes, type 2 diabetes mellitus, transient neonatal diabetes, dominant/recessive, diabetic retinopathy, AL amyloidosis.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable INS variants
Examples include M1?, M1I, M1V, A2G, A2T, A2A, A2D, A2V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV99171, cosmic curated COSV10605
- M1I (p.Met1Ile), rs397515521, ClinGen CA344913, ClinVar RCV000055791, ClinVar RCV003445477, not provided, Permanent neonatal diabetes mellitus
- M1V (p.Met1Val), rs757124361, ClinGen CA5818208, ClinVar RCV001946765, ClinVar RCV002492128, Pathogenic/Likely pathogenic, Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Hyperproins
- A2G (p.Ala2Gly), Ensembl rs1845881727
- A2T (p.Ala2Thr), 1000Genomes rs535989053, ExAC rs535989053, TOPMed rs535989053, gnomAD rs535989053, REVEL 0.71, MetaLR 0.96
- A2A (p.Ala2Ala), rs764207450, gnomAD 11-2160966-G-A, CADD 6.23
- A2D (p.Ala2Asp), gnomAD 11-2160967-G-T, REVEL 0.79, MetaLR 0.97
- A2V (p.Ala2Val), gnomAD 11-2160967-G-A, REVEL 0.76, MetaLR 0.96
- L3M (p.Leu3Met), NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, Variant assessed as somatic; moderate impact.
- L3V (p.Leu3Val), gnomAD 11-2160965-G-C, REVEL 0.66, MetaLR 0.90
- M5I (p.Met5Ile), rs1451696290, ClinGen CA379122525, ClinVar RCV003814060, gnomAD rs1451696290, Uncertain significance, not provided
- R6C (p.Arg6Cys), rs121908278, ClinGen CA123085, cosmic curated COSV51747, ClinVar RCV000014322, REVEL 0.46, MetaLR 0.89, Likely risk allele, Maturity-onset diabetes of the young type 10
- R6G (p.Arg6Gly), rs121908278, NCI-TCGA Cosmic COSV5174, NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, REVEL 0.52, MetaLR 0.85, Variant assessed as somatic; moderate impact., in MODY10
- R6H (p.Arg6His), rs121908259, ClinGen CA145259, ClinVar RCV000059609, ClinVar RCV003415831, REVEL 0.59, MetaLR 0.76, Conflicting interpretations, Maturity-onset diabetes of the young type 10; Type 1 diabetes mellitus 2; Diabet
- R6P (p.Arg6Pro), NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, Variant assessed as somatic; moderate impact., in MODY10
- L7L (p.Leu7Leu), rs759951127, gnomAD 11-2160951-G-A, CADD 0.43
- L7F (p.Leu7Phe), gnomAD 11-2160953-G-A, REVEL 0.33, MetaLR 0.79
- L8Q (p.Leu8Gln), cosmic curated COSV51746
- L8L (p.Leu8Leu), rs1257847180, gnomAD 11-2160950-G-A, CADD 5.08
- P9R (p.Pro9Arg), rs1564912403, ClinGen CA379122455, ClinVar RCV000768377, ClinVar RCV002464311, Likely risk allele, Neonatal insulin-dependent diabetes mellitus
- P9S (p.Pro9Ser), rs372122432, ClinGen CA10634387, ClinVar RCV000325720, ClinVar RCV000389656, REVEL 0.43, MetaLR 0.75, Uncertain significance, INS-related disorder; Diabetes mellitus, permanent neonatal 4; Hyperproinsulinem
- P9P (p.Pro9Pro), rs11557610, gnomAD 11-2160945-G-C, CADD 8.23
- P9L (p.Pro9Leu), gnomAD 11-2160946-G-A, REVEL 0.65, MetaLR 0.90
- L10Q (p.Leu10Gln), rs2495757450, ClinGen CA379122431, ClinVar RCV002301356, Uncertain significance, not provided
- L10L (p.Leu10Leu), rs1029106816, gnomAD 11-2160942-C-T, CADD 9.17
- L11P (p.Leu11Pro), gnomAD rs1213888316, REVEL 0.86, MetaLR 0.77
- A12E (p.Ala12Glu), ExAC rs777079520, TOPMed rs777079520, gnomAD rs777079520, REVEL 0.67, MetaLR 0.61, Uncertain significance
- A12S (p.Ala12Ser), NCI-TCGA Cosmic COSV5174, cosmic curated COSV51746, Variant assessed as somatic; moderate impact.
- A12V (p.Ala12Val), ExAC rs777079520, TOPMed rs777079520, gnomAD rs777079520, REVEL 0.29, MetaLR 0.29, Uncertain significance, not provided; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia
- A12A (p.Ala12Ala), rs3842744, gnomAD 11-2160936-C-T, CADD 4.69
- L13P (p.Leu13Pro), gnomAD rs1313490068, REVEL 0.76, MetaLR 0.77
- L13L (p.Leu13Leu), rs1296510232, gnomAD 11-2160933-C-A, CADD 7.70
- L14Q (p.Leu14Gln), TOPMed rs1845879949
- L14L (p.Leu14Leu), rs774043636, gnomAD 11-2160932-G-A, CADD 8.33
- L16F (p.Leu16Phe), cosmic curated COSV99171, gnomAD rs1381231935, REVEL 0.18, MetaLR 0.41
- L16Q (p.Leu16Gln), rs1845879289, gnomAD 11-2160909-TGGGTC, CADD 25.80
- L16L (p.Leu16Leu), rs151134873, gnomAD 11-2160924-G-C, CADD 4.69
- L16I (p.Leu16Ile), gnomAD 11-2160926-G-T, REVEL 0.31, MetaLR 0.49
- W17L (p.Trp17Leu), cosmic curated COSV99171
- W17C (p.Trp17Cys), gnomAD 11-2160921-C-A, REVEL 0.57, MetaLR 0.52
- W17* (p.Trp17Ter), gnomAD 11-2160921-C-T, CADD 35.00
- G18R (p.Gly18Arg), rs748696269, ClinGen CA5818198, ClinVar RCV004158356, ExAC rs748696269, REVEL 0.44, MetaLR 0.32, Uncertain significance, not specified
- G18V (p.Gly18Val), gnomAD 11-2160919-C-A, REVEL 0.33, MetaLR 0.35
- P19P (p.Pro19Pro), rs1312759239, gnomAD 11-2160915-A-G, CADD 0.70
- P19S (p.Pro19Ser), gnomAD 11-2160917-G-A, REVEL 0.33, MetaLR 0.44
- D20E (p.Asp20Glu), TOPMed rs1357121869, gnomAD rs1357121869, REVEL 0.33, MetaLR 0.69
- D20D (p.Asp20Asp), rs1357121869, gnomAD 11-2160912-G-A, CADD 0.26
- P21L (p.Pro21Leu), ESP rs369743665, ExAC rs369743665, TOPMed rs369743665, gnomAD rs369743665, REVEL 0.33, MetaLR 0.84
- P21S (p.Pro21Ser), TOPMed rs927782619, gnomAD rs927782619, REVEL 0.32, MetaLR 0.74
- P21P (p.Pro21Pro), rs11564720, gnomAD 11-2160909-T-C, CADD 0.11
- A22D (p.Ala22Asp), cosmic curated COSV51748, REVEL 0.44, MetaLR 0.88
- A22V (p.Ala22Val), ExAC rs745671341, gnomAD rs745671341, REVEL 0.27, MetaLR 0.86
- A22A (p.Ala22Ala), rs375371953, gnomAD 11-2160906-G-T, CADD 3.24
- A22G (p.Ala22Gly), gnomAD 11-2160907-G-C, REVEL 0.35, MetaLR 0.88
- A22T (p.Ala22Thr), gnomAD 11-2160908-C-T, REVEL 0.28, MetaLR 0.82
- A23S (p.Ala23Ser), cosmic curated COSV51747, 1000Genomes rs13306444, ExAC rs13306444, TOPMed rs13306444, CADD 20.90, Benign
- A23T (p.Ala23Thr), rs13306444, ClinGen CA5818192, ClinVar RCV000905000, ClinVar RCV001107550, REVEL 0.35, MetaLR 0.70, Conflicting interpretations, Maturity-onset diabetes of the young type 10; Diabetes mellitus, permanent neona
- A23A (p.Ala23Ala), gnomAD 11-2160903-T-A, CADD 3.49
- A23V (p.Ala23Val), gnomAD 11-2160904-G-A, REVEL 0.41, MetaLR 0.79
- A24D (p.Ala24Asp), rs80356663, ClinGen CA341284, ClinVar RCV000014320, ClinVar RCV001089455, Pathogenic/Likely risk allele, Diabetes mellitus, permanent neonatal 4; not provided
- A24V (p.Ala24Val), rs80356663, ClinGen CA214065, ClinVar RCV000030071, ClinVar RCV001818190, Likely pathogenic, Neonatal diabetes mellitus; not provided
- A24A (p.Ala24Ala), rs539284976, gnomAD 11-2160900-G-T, CADD 5.13
- A24S (p.Ala24Ser), gnomAD 11-2160902-C-A, REVEL 0.47, MetaLR 0.91
- F25F (p.Phe25Phe), gnomAD 11-2160897-A-G, CADD 4.94
- F25S (p.Phe25Ser), gnomAD 11-2160898-A-G, REVEL 0.67, MetaLR 0.91
- V26E (p.Val26Glu), gnomAD 11-2160893-TCA-T, CADD 23.60
- V26V (p.Val26Val), gnomAD 11-2160894-C-G, CADD 1.26
- N27N (p.Asn27Asn), gnomAD 11-2160891-G-A, CADD 4.36
- Q28* (p.Gln28Ter), cosmic curated COSV51748
- Q28H (p.Gln28His), TOPMed rs1182567488, gnomAD rs1182567488
- Q28K (p.Gln28Lys), cosmic curated COSV51747
- Q28Q (p.Gln28Gln), rs1182567488, gnomAD 11-2160888-T-C, CADD 5.78
- Q28R (p.Gln28Arg), gnomAD 11-2160889-T-C, REVEL 0.62, MetaLR 0.66
- H29D (p.His29Asp), rs121908272, ClinGen CA266176, ClinVar RCV000059615, ClinVar RCV003445480, Uncertain significance, Diabetes mellitus, permanent neonatal 4
- H29P (p.His29Pro), cosmic curated COSV51747
- C31G (p.Cys31Gly), rs2133676771, ClinGen CA379121819, ClinVar RCV001864754, Ensembl rs2133676771, Uncertain significance, not provided
- C31C (p.Cys31Cys), rs758540467, gnomAD 11-2160879-G-A, CADD 1.28
- G32R (p.Gly32Arg), rs80356664, ClinGen CA341647, NCI-TCGA Cosmic COSV5174, cosmic curated COSV51747, not provided, Permanent neonatal diabetes mellitus
- G32S (p.Gly32Ser), rs80356664, ClinGen CA214067, ClinVar RCV000020212, ClinVar RCV000030072, REVEL 0.96, MetaLR 0.97, Pathogenic/Likely pathogenic, Diabetes mellitus, permanent neonatal 4; not provided; Neonatal diabetes mellitu
- G32V (p.Gly32Val), rs2133676747, ClinGen CA379121802, ClinVar RCV001817993, Ensembl rs2133676747, Likely pathogenic, not provided
- S33* (p.Ser33Ter), TOPMed rs1305272632, gnomAD rs1305272632, CADD 39.00
- S33S (p.Ser33Ser), gnomAD 11-2160873-T-C, CADD 5.04
- H34D (p.His34Asp), rs121918101, ClinGen CA123078, ClinVar RCV000014308, UniProt VAR 003971, Uncertain significance, Hyperproinsulinemia
- H34N (p.His34Asn), cosmic curated COSV51748
- H34P (p.His34Pro), rs1564912274, ClinGen CA379121774, ClinVar RCV002052032, Ensembl rs1564912274, Likely pathogenic, Neonatal diabetes mellitus
- H34R (p.His34Arg), Ensembl rs1564912274, REVEL 0.80, MetaLR 0.71, Uncertain significance, not provided
- H34H (p.His34His), rs1273080767, gnomAD 11-2159811-G-A, CADD 3.00
- H34Q (p.His34Gln), gnomAD 11-2159811-G-T, CADD 2.48, SIFT 0.52
- H34L (p.His34Leu), gnomAD 11-2159812-T-A, CADD 2.82, SIFT 0.40
- H34Y (p.His34Tyr), gnomAD 11-2159813-G-A, CADD 8.25, SIFT 0.33
- L35M (p.Leu35Met), rs1278232284, ClinGen CA379121766, ClinVar RCV002052033, gnomAD rs1278232284, Likely pathogenic, Neonatal diabetes mellitus
- L35P (p.Leu35Pro), rs121908273, ClinGen CA266170, ClinVar RCV000059608, UniProt VAR 063727, not provided, Permanent neonatal diabetes mellitus
- L35Q (p.Leu35Gln), rs121908273, ClinGen CA379121761, ClinVar RCV003445452, Ensembl rs121908273, Likely risk allele, Diabetes mellitus, permanent neonatal 4
- L35V (p.Leu35Val), rs1278232284, ClinGen CA379121763, ClinVar RCV001818011, gnomAD rs1278232284, Likely pathogenic, not provided
- L35L (p.Leu35Leu), rs1278232284, gnomAD 11-2160869-G-A, CADD 8.04
- V36V (p.Val36Val), gnomAD 11-2160864-C-T, CADD 8.52
- V36L (p.Val36Leu), gnomAD 11-2160866-C-G, REVEL 0.86, MetaLR 0.88
- E37G (p.Glu37Gly), cosmic curated COSV10875, Uncertain significance, not provided
- E37K (p.Glu37Lys), cosmic curated COSV10456
- A38T (p.Ala38Thr), Ensembl rs1564912261, REVEL 0.75, MetaLR 0.70
- A38V (p.Ala38Val), Ensembl rs11557614
- A38A (p.Ala38Ala), gnomAD 11-2160858-A-G, CADD 0.43
- L39F (p.Leu39Phe), rs2133676660, ClinGen CA379121698, ClinVar RCV002466269, Ensembl rs2133676660, Likely pathogenic, Maturity-onset diabetes of the young type 10
- L39L (p.Leu39Leu), gnomAD 11-2160855-G-C, CADD 1.33
- Y40H (p.Tyr40His), gnomAD 11-2160854-A-G, REVEL 0.87, MetaLR 0.83
- L41P (p.Leu41Pro), cosmic curated COSV10722
- L41L (p.Leu41Leu), rs1207563240, gnomAD 11-2160849-T-G, CADD 5.15
- V42A (p.Val42Ala), rs886037863, ClinGen CA10586325, ClinVar RCV000240176, ClinVar RCV004719789, Pathogenic/Likely pathogenic, not provided; Maturity-onset diabetes of the young type 10
- C43G (p.Cys43Gly), rs80356666, ClinGen CA214063, ClinVar RCV000020204, ClinVar RCV000030069, Pathogenic/Likely risk allele, not provided; Type 2 diabetes mellitus
- C43C (p.Cys43Cys), rs201392940, gnomAD 11-2160843-G-A, CADD 2.12
- C43* (p.Cys43Ter), gnomAD 11-2160843-G-T, CADD 33.00
- G44R (p.Gly44Arg), rs765512575, ClinGen CA5818188, ClinVar RCV000304558, ClinVar RCV000359349, REVEL 0.80, MetaLR 0.79, Conflicting interpretations, Transient Neonatal Diabetes, Dominant/Recessive; Maturity-onset diabetes of the
- E45K (p.Glu45Lys), NCI-TCGA Cosmic COSV5174, cosmic curated COSV51748, REVEL 0.63, MetaLR 0.81, Variant assessed as somatic; moderate impact.
- R46* (p.Arg46Ter), rs1225892123, ClinGen CA379121559, ClinVar RCV003402304, gnomAD rs1225892123, CADD 35.00, Likely pathogenic, in MODY10
- R46Q (p.Arg46Gln), rs121908260, ClinGen CA123086, NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, REVEL 0.74, MetaLR 0.84, Conflicting interpretations, Diabetes mellitus, permanent neonatal 4; not provided; Maturity-onset diabetes o
- G47R (p.Gly47Arg), gnomAD rs1313322794, REVEL 0.89, MetaLR 0.87
- G47V (p.Gly47Val), rs80356667, ClinGen CA341643, ClinVar RCV000020205, ClinVar RCV003445081, Uncertain significance, Diabetes mellitus, permanent neonatal 4
- G47G (p.Gly47Gly), rs11557609, gnomAD 11-2160831-G-A, CADD 5.21
- F48C (p.Phe48Cys), rs80356668, ClinGen CA341285, ClinVar RCV000014321, ClinVar RCV001089456, Likely pathogenic/Likely risk allele, Diabetes mellitus, permanent neonatal 4; Neonatal diabetes mellitus
- F48S (p.Phe48Ser), rs80356668, ClinGen CA123076, ClinVar RCV000014307, UniProt VAR 003972, Pathogenic, Hyperproinsulinemia
- F48V (p.Phe48Val), cosmic curated COSV51746
- F49L (p.Phe49Leu), rs148685531, ClinGen CA123073, ClinVar RCV000014306, UniProt VAR 003973, REVEL 0.86, MetaLR 0.84, Uncertain significance, not specified
- F49del (p.Phe49del), rs1376385292, gnomAD 11-2160823-TAGA-T, CADD 17.20
- F49F (p.Phe49Phe), rs148685531, gnomAD 11-2160825-G-A, CADD 11.30
- Y50Y (p.Tyr50Tyr), rs1309249512, gnomAD 11-2160822-G-A, CADD 4.69
- Y50S (p.Tyr50Ser), gnomAD 11-2160823-T-G, REVEL 0.82, MetaLR 0.82
- T51A (p.Thr51Ala), gnomAD rs1410071121, REVEL 0.27, MetaLR 0.57
- T51I (p.Thr51Ile), 1000Genomes rs556809279, ExAC rs556809279, TOPMed rs556809279, gnomAD rs556809279, REVEL 0.36, MetaLR 0.45, Uncertain significance, not provided
- T51T (p.Thr51Thr), rs773789432, gnomAD 11-2160819-T-C, CADD 1.93
- P52H (p.Pro52His), rs145038693, ClinGen CA379121410, ClinVar RCV002225237, ESP rs145038693, Uncertain significance, Maturity-onset diabetes of the young type 10
- P52L (p.Pro52Leu), rs145038693, ClinGen CA379121407, ClinVar RCV001197790, ESP rs145038693, Pathogenic, Maturity-onset diabetes of the young type 10
- P52R (p.Pro52Arg), rs145038693, ClinGen CA5818182, ClinVar RCV002464669, ESP rs145038693, REVEL 0.66, MetaLR 0.77, Likely pathogenic, Neonatal insulin-dependent diabetes mellitus
- P52S (p.Pro52Ser), TOPMed rs1460766978, gnomAD rs1460766978, REVEL 0.69, MetaLR 0.80
- P52T (p.Pro52Thr), TOPMed rs1460766978, gnomAD rs1460766978, REVEL 0.73, MetaLR 0.84
- P52P (p.Pro52Pro), gnomAD 11-2160816-G-T, CADD 8.31
- K53E (p.Lys53Glu), ESP rs368338862, ExAC rs368338862, TOPMed rs368338862, gnomAD rs368338862, REVEL 0.74, MetaLR 0.82, Uncertain significance, Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Maturity-on
- K53T (p.Lys53Thr), 1000Genomes rs202244834, ExAC rs202244834, TOPMed rs202244834, REVEL 0.56, MetaLR 0.64, Uncertain significance, Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Maturity-on
- T54P (p.Thr54Pro), Ensembl rs1590159117
- T54S (p.Thr54Ser), TOPMed rs1845874638, REVEL 0.40, MetaLR 0.26
- T54T (p.Thr54Thr), rs769540056, gnomAD 11-2160810-G-A, CADD 8.56
- R55C (p.Arg55Cys), rs121908261, ClinGen CA123087, ClinVar RCV000014324, ClinVar RCV001558886, Pathogenic/Likely pathogenic/Likely risk allele, Monogenic diabetes; not provided; Diabetes mellitus type 1
- R55H (p.Arg55His), rs1184417816, NCI-TCGA Cosmic COSV5174, cosmic curated COSV51748, gnomAD rs1184417816, REVEL 0.76, MetaLR 0.82, Uncertain significance, not provided
- R55R (p.Arg55Arg), rs745511856, gnomAD 11-2160807-G-A, CADD 8.92
- R55L (p.Arg55Leu), gnomAD 11-2160808-C-A, REVEL 0.76, MetaLR 0.82
- R56Q (p.Arg56Gln), gnomAD rs983508038
- R56W (p.Arg56Trp), ExAC rs781016664, gnomAD rs781016664, REVEL 0.75, MetaLR 0.84
- R56R (p.Arg56Arg), gnomAD 11-2160804-C-T, CADD 8.10
- R56G (p.Arg56Gly), gnomAD 11-2160806-G-C, REVEL 0.71, MetaLR 0.74
- E57* (p.Glu57Ter), gnomAD 11-2160803-C-A, CADD 46.00
- A58G (p.Ala58Gly), ExAC rs770737691, gnomAD rs770737691, REVEL 0.34, MetaLR 0.47
- A58V (p.Ala58Val), ExAC rs770737691, gnomAD rs770737691, REVEL 0.19, MetaLR 0.23
- E59K (p.Glu59Lys), NCI-TCGA Cosmic COSV5174, cosmic curated COSV51748, Ensembl rs1845873763, REVEL 0.62, MetaLR 0.80, Variant assessed as somatic; moderate impact.
- D60E (p.Asp60Glu), TOPMed rs1243984856, gnomAD rs1243984856, REVEL 0.19, MetaLR 0.43
- D60G (p.Asp60Gly), Ensembl rs2133676297
- D60N (p.Asp60Asn), TOPMed rs954838167, gnomAD rs954838167, REVEL 0.37, MetaLR 0.66
- D60Y (p.Asp60Tyr), TOPMed rs954838167, gnomAD rs954838167, REVEL 0.54, MetaLR 0.83
- D60D (p.Asp60Asp), rs200306755, gnomAD 11-2159850-G-A, CADD 0.63
- D60V (p.Asp60Val), rs1230540711, gnomAD 11-2159851-T-A, CADD 1.51, SIFT 0.16
- L61M (p.Leu61Met), gnomAD 11-2160791-G-T, REVEL 0.39, MetaLR 0.68
- Q62H (p.Gln62His), cosmic curated COSV51748
- Q62Q (p.Gln62Gln), rs1845873464, gnomAD 11-2160786-C-T, CADD 7.05
- Q62R (p.Gln62Arg), gnomAD 11-2160787-T-C, REVEL 0.52, MetaLR 0.66
- Q62K (p.Gln62Lys), gnomAD 11-2160788-G-T, REVEL 0.49, MetaLR 0.72
- V63A (p.Val63Ala), ExAC rs760240330, TOPMed rs760240330, gnomAD rs760240330, REVEL 0.33, MetaLR 0.37, Uncertain significance, not specified
- V63L (p.Val63Leu), ExAC rs746770373, gnomAD rs746770373, REVEL 0.23, MetaLR 0.50
- V63V (p.Val63Val), gnomAD 11-2159996-C-A, CADD 3.25
- V63E (p.Val63Glu), gnomAD 11-2159997-A-T, REVEL 0.44, MetaLR 0.53
- G64R (p.Gly64Arg), Ensembl rs1590157717, CADD 12.70, SIFT 0.40
- G64W (p.Gly64Trp), cosmic curated COSV51747, REVEL 0.46, MetaLR 0.76
- G64G (p.Gly64Gly), gnomAD 11-2159960-G-T, CADD 0.75, SIFT 0.09
- G64V (p.Gly64Val), gnomAD 11-2159994-C-A, REVEL 0.47, MetaLR 0.63
- G64E (p.Gly64Glu), gnomAD 11-2159994-C-T, REVEL 0.20, MetaLR 0.41
- Q65* (p.Gln65Ter), gnomAD rs1436487937, CADD 37.00
- Q65K (p.Gln65Lys), NCI-TCGA Cosmic COSV9917, cosmic curated COSV99171, REVEL 0.38, MetaLR 0.62, Variant assessed as somatic; moderate impact.
- Q65L (p.Gln65Leu), ExAC rs773102009, TOPMed rs773102009, gnomAD rs773102009, REVEL 0.15, MetaLR 0.47, Uncertain significance, Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Maturity-on
- Q65R (p.Gln65Arg), rs773102009, ClinGen CA379121046, ClinVar RCV002663811, ExAC rs773102009, REVEL 0.32, MetaLR 0.59, Uncertain significance, not provided
- Q65H (p.Gln65His), gnomAD 11-2159990-C-A, REVEL 0.33, MetaLR 0.67
- Q65Q (p.Gln65Gln), rs771743781, gnomAD 11-2159990-C-T, CADD 3.40
- V66M (p.Val66Met), cosmic curated COSV10507, REVEL 0.32, MetaLR 0.61
- V66V (p.Val66Val), gnomAD 11-2159987-C-T, CADD 2.31, SIFT 0.07
Public INS analysis runs
- INS analysis run — INS (344 variants) — completed 2026-08-19