KCNB1 (Q14721) variants and mutations
KCNB1 (also known as Q14721) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily B member 1 protein. Its delayed-rectifier current contributes to neuronal repolarization and also participates in activity-dependent signaling complexes at the membrane. De novo pathogenic variants are an important cause of developmental and epileptic encephalopathy with intellectual disability and variable seizures. This analysis covers 1,560 KCNB1 variants and mutations. Of these, 60% have computational variant effect predictions. Disease context includes undetermined early-onset epileptic encephalopathy, multiple sclerosis, and Lambert-Eaton myasthenic syndrome. Example KCNB1 variants include P2Q, P2R, and P2S.
Variant analysis overview
- Gene: KCNB1
- Protein: Q14721
- UniProt accession: Q14721
- Organism: Homo sapiens
- Variants analyzed: 1560
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 1,099 unspecified-consequence records; 1 stop lost; 195 missense variants; 228 synonymous variants; 7 stop-gained variants; 1 splice-region variants; 13 frameshift variants; 7 in-frame deletions; 3 in-frame insertions; 1 protein altering variant; 4 substitution
- Prediction scores: 934 variants have prediction scores (60% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: undetermined early-onset epileptic encephalopathy, multiple sclerosis, Lambert-Eaton myasthenic syndrome, myasthenia gravis, Epileptic encephalopathy, Intellectual disability, genetic developmental and epileptic encephalopathy, hereditary disease, congenital myasthenic syndrome, Congenital myasthenic syndromes, developmental and epileptic encephalopathy, Muscle weakness.
Protein structure and variant hotspots
- Protein features: 6 transmembrane segments; 19 post-translational modification sites.
- Structural context: 173 variants have structural context.
- PTM context: 42 variants overlap post-translational modification sites.
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 KCNB1 variants
Examples include P2Q, P2R, P2S, A3T, G4C, M5L, M5R, T6A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P2Q (p.Pro2Gln), rs1279418021, ClinGen CA408952650, ClinVar RCV002601967, REVEL 0.55, CADD 25.90, Likely benign, Developmental and epileptic encephalopathy, 26
- P2R (p.Pro2Arg), rs1279418021, ClinGen CA408952649, ClinVar RCV001516061, TOPMed rs1279418021, Benign, Developmental and epileptic encephalopathy, 26
- P2S (p.Pro2Ser), rs1054441474, ClinGen CA315158702, ClinVar RCV001034297, TOPMed rs1054441474, REVEL 0.49, CADD 26.10, Likely benign, Developmental and epileptic encephalopathy, 26
- A3T (p.Ala3Thr), rs1980535333, ClinGen CA408952620, ClinVar RCV003855814, gnomAD rs1980535333, REVEL 0.23, CADD 20.40, Uncertain significance, Developmental and epileptic encephalopathy, 26
- G4C (p.Gly4Cys), gnomAD rs1156516300, REVEL 0.58, CADD 26.60
- M5L (p.Met5Leu), Ensembl rs924619372, REVEL 0.34, CADD 19.00
- M5R (p.Met5Arg), TOPMed rs1280741933
- T6A (p.Thr6Ala), rs1053853164, ClinGen CA315158687, ClinVar RCV003587111, TOPMed rs1053853164, REVEL 0.25, CADD 21.50, Uncertain significance, Developmental and epileptic encephalopathy, 26
- K7E (p.Lys7Glu), rs936778119, ClinGen CA315158686, ClinVar RCV000700655, TOPMed rs936778119, REVEL 0.61, CADD 26.90, Conflicting interpretations, Developmental and epileptic encephalopathy, 26
- H8Q (p.His8Gln), cosmic curated COSV65566
- H8R (p.His8Arg), TOPMed rs1051157537, gnomAD rs1051157537, REVEL 0.19, CADD 21.10
- H8Y (p.His8Tyr), rs2516924772, ClinGen CA408952505, ClinVar RCV004528655, Uncertain significance, KCNB1-related disorder
- G9D (p.Gly9Asp), TOPMed rs1980533174, REVEL 0.50, CADD 23.50, Uncertain significance, not specified
- G9S (p.Gly9Ser), TOPMed rs1980533365, REVEL 0.32, CADD 22.10
- S10F (p.Ser10Phe), rs902335211, ClinGen CA315158667, ClinVar RCV001977211, TOPMed rs902335211, REVEL 0.64, CADD 27.40, Uncertain significance, Developmental and epileptic encephalopathy, 26
- S10P (p.Ser10Pro), rs1980531569, ClinGen CA408952465, ClinVar RCV002625329, ClinVar RCV003274310, REVEL 0.60, CADD 23.80, Conflicting interpretations, Inborn genetic diseases; Developmental and epileptic encephalopathy, 26
- S10Y (p.Ser10Tyr), TOPMed rs902335211, gnomAD rs902335211, Uncertain significance
- R11C (p.Arg11Cys), rs1042622178, ClinGen CA315158665, ClinVar RCV003749167, ClinVar RCV003992780, REVEL 0.58, CADD 31.00, Uncertain significance, Developmental and epileptic encephalopathy, 26; not provided
- R11G (p.Arg11Gly), TOPMed rs1042622178, gnomAD rs1042622178, REVEL 0.59, CADD 27.50, Uncertain significance
- R11H (p.Arg11His), gnomAD rs1318853446, REVEL 0.34, CADD 23.60, Uncertain significance
- R11L (p.Arg11Leu), rs1318853446, ClinGen CA408952427, ClinVar RCV003013279, gnomAD rs1318853446, REVEL 0.55, CADD 25.70, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R11S (p.Arg11Ser), rs1042622178, ClinGen CA408952450, ClinVar RCV003340791, REVEL 0.57, CADD 26.90, Uncertain significance, Developmental and epileptic encephalopathy, 26
- S14N (p.Ser14Asn), gnomAD rs1345903931, REVEL 0.24, CADD 21.20, Benign, Developmental and epileptic encephalopathy, 26
- S15L (p.Ser15Leu), cosmic curated COSV10747, REVEL 0.65, CADD 29.40
- P17T (p.Pro17Thr), cosmic curated COSV10530, REVEL 0.77, CADD 27.30
- E19D (p.Glu19Asp), NCI-TCGA TCGA novel, REVEL 0.22, CADD 20.20, Variant assessed as somatic; moderate impact.
- E19K (p.Glu19Lys), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, NCI-TCGA Cosmic COSV6556, REVEL 0.52, CADD 24.90, Variant assessed as somatic; moderate impact.
- E19Q (p.Glu19Gln), rs976018808, NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6556, cosmic curated COSV65569, REVEL 0.44, CADD 24.30, Variant assessed as somatic; moderate impact.
- P20T (p.Pro20Thr), TOPMed rs1489259002, gnomAD rs1489259002, REVEL 0.55, CADD 23.00, Uncertain significance, Developmental and epileptic encephalopathy, 26
- M21I (p.Met21Ile), gnomAD rs1433503190, REVEL 0.18, CADD 17.60
- M21K (p.Met21Lys), gnomAD rs1299388667, REVEL 0.39, CADD 23.00, Uncertain significance, Developmental and epileptic encephalopathy, 26
- M21L (p.Met21Leu), rs1345254263, ClinGen CA408952241, ClinVar RCV003074206, ClinVar RCV003228113, REVEL 0.20, CADD 22.60, Uncertain significance, not provided; Developmental and epileptic encephalopathy, 26
- M21T (p.Met21Thr), rs1299388667, ClinGen CA408952238, ClinVar RCV002654242, Uncertain significance, Developmental and epileptic encephalopathy, 26
- E22D (p.Glu22Asp), ExAC rs745635029, gnomAD rs745635029, REVEL 0.24, CADD 16.80, Likely benign
- I23T (p.Ile23Thr), gnomAD rs1315539508, REVEL 0.77, CADD 28.90
- V24L (p.Val24Leu), rs778774389, ClinGen CA408952168, ClinVar RCV002612846, ClinVar RCV006255416, REVEL 0.19, CADD 22.10, Uncertain significance, Developmental and epileptic encephalopathy, 26; not provided
- V24M (p.Val24Met), rs778774389, ClinGen CA9903232, ClinVar RCV001763949, ClinVar RCV003132534, REVEL 0.21, CADD 22.70, Uncertain significance, Developmental and epileptic encephalopathy, 26; not provided
- R25C (p.Arg25Cys), cosmic curated COSV65566, TOPMed rs1479362052, gnomAD rs1479362052, REVEL 0.72, CADD 31.00, Uncertain significance
- R25G (p.Arg25Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R25H (p.Arg25His), cosmic curated COSV10530, REVEL 0.65, CADD 29.10
- R25Q (p.Arg25Gln), rs2122803954, ClinGen CA2573054883, ClinVar RCV001765327, Ensembl rs2122803954, Uncertain significance, not provided
- R25S (p.Arg25Ser), rs1479362052, ClinGen CA408952161, ClinVar RCV002781476, TOPMed rs1479362052, REVEL 0.70, CADD 27.50, Uncertain significance, Developmental and epileptic encephalopathy, 26
- K27E (p.Lys27Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K27R (p.Lys27Arg), rs1051739254, gnomAD 20-49299355-T-C, CADD 7.23
- A28G (p.Ala28Gly), ExAC rs769852170, TOPMed rs769852170, gnomAD rs769852170, REVEL 0.41, CADD 24.50, Benign, Developmental and epileptic encephalopathy, 26
- A28T (p.Ala28Thr), rs2516924643, ClinGen CA408952096, ClinVar RCV003749203, REVEL 0.22, CADD 21.50, Benign, Developmental and epileptic encephalopathy, 26
- A28V (p.Ala28Val), rs769852170, ClinGen CA9903231, ClinVar RCV001205931, ClinVar RCV001760170, REVEL 0.42, CADD 24.50, Uncertain significance, Developmental and epileptic encephalopathy, 26; not provided
- S30C (p.Ser30Cys), Ensembl rs2122803909
- R31P (p.Arg31Pro), rs2122803896, ClinGen CA408951993, ClinVar RCV002160317, Ensembl rs2122803896, REVEL 0.82, CADD 28.50, Likely benign, Developmental and epileptic encephalopathy, 26
- R31W (p.Arg31Trp), rs1276745544, cosmic curated COSV10820, ClinGen CA408952003, ClinVar RCV002828145, REVEL 0.81, CADD 25.90, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R32P (p.Arg32Pro), rs1265291573, ClinGen CA408951975, ClinVar RCV002305382, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R32Q (p.Arg32Gln), gnomAD rs1265291573
- R32W (p.Arg32Trp), cosmic curated COSV10442, REVEL 0.82, CADD 29.80
- V33G (p.Val33Gly), gnomAD rs201544419, REVEL 0.95, CADD 29.70
- V33I (p.Val33Ile), cosmic curated COSV65567, REVEL 0.44, CADD 24.00
- R34C (p.Arg34Cys), NCI-TCGA TCGA novel, TOPMed rs1980526574, gnomAD rs1980526574, REVEL 0.48, CADD 24.00, Variant assessed as somatic; moderate impact.
- R34H (p.Arg34His), rs2122803857, ClinGen CA408951919, ClinVar RCV002198075, Ensembl rs2122803857, REVEL 0.32, CADD 22.80, Benign, Developmental and epileptic encephalopathy, 26
- L35I (p.Leu35Ile), Ensembl rs2122803843
- N36K (p.Asn36Lys), NCI-TCGA TCGA novel, REVEL 0.82, CADD 24.10, Variant assessed as somatic; moderate impact.
- G38A (p.Gly38Ala), rs1555801618, ClinGen CA408951839, ClinVar RCV000498592, Ensembl rs1555801618, Uncertain significance, not provided
- G38R (p.Gly38Arg), NCI-TCGA Cosmic COSV6557, cosmic curated COSV65570, Variant assessed as somatic; moderate impact.
- G38G (p.Gly38Gly), gnomAD 20-49299381-C-A, CADD 1.52
- G38W (p.Gly38Trp), gnomAD 20-49299383-C-A, CADD 9.27
- A41P (p.Ala41Pro), ExAC rs755023671, gnomAD rs755023671, REVEL 0.21, CADD 22.50
- A41T (p.Ala41Thr), cosmic curated COSV65569, REVEL 0.26, CADD 22.30
- A41V (p.Ala41Val), rs1980525336, ClinGen CA408951743, ClinVar RCV001060788, Ensembl rs1980525336, REVEL 0.21, CADD 23.00, Uncertain significance, Developmental and epileptic encephalopathy, 26
- H42Q (p.His42Gln), rs1568658526, ClinGen CA408951708, ClinVar RCV000704548, Ensembl rs1568658526, REVEL 0.54, CADD 23.70, Uncertain significance, Developmental and epileptic encephalopathy, 26
- E43G (p.Glu43Gly), rs1568658507, ClinGen CA408951695, ClinVar RCV000782143, Ensembl rs1568658507, Likely pathogenic, Epileptic encephalopathy
- E43K (p.Glu43Lys), cosmic curated COSV65567, gnomAD rs1429354019
- E43E (p.Glu43Glu), gnomAD 20-49299363-T-C, CADD 1.57
- E43* (p.Glu43Ter), gnomAD 20-49299368-C-A, CADD 35.00
- V44G (p.Val44Gly), Ensembl rs878960130, REVEL 0.91, CADD 29.60
- W46* (p.Trp46Ter), cosmic curated COSV65566, CADD 37.00
- W46C (p.Trp46Cys), cosmic curated COSV65570
- R47C (p.Arg47Cys), cosmic curated COSV10087, 1000Genomes rs551083482, ExAC rs551083482, TOPMed rs551083482, REVEL 0.69, CADD 31.00
- R47G (p.Arg47Gly), 1000Genomes rs551083482, ExAC rs551083482, TOPMed rs551083482, gnomAD rs551083482
- R47H (p.Arg47His), rs1338339252, NCI-TCGA Cosmic COSV6556, cosmic curated COSV65568, gnomAD rs1338339252, REVEL 0.62, CADD 29.50, Variant assessed as somatic; moderate impact.
- R47L (p.Arg47Leu), NCI-TCGA Cosmic COSV6556, REVEL 0.81, CADD 28.80, Benign, Developmental and epileptic encephalopathy, 26
- R47S (p.Arg47Ser), 1000Genomes rs551083482, ExAC rs551083482, TOPMed rs551083482, gnomAD rs551083482, REVEL 0.51, CADD 24.60
- T48A (p.Thr48Ala), TOPMed rs1980524220
- T48I (p.Thr48Ile), gnomAD 20-49299370-G-A, CADD 9.60
- T48K (p.Thr48Lys), gnomAD 20-49299370-G-T, CADD 13.80
- D50H (p.Asp50His), gnomAD rs1467898135, REVEL 0.55, CADD 27.60
- D50N (p.Asp50Asn), NCI-TCGA Cosmic COSV6557, cosmic curated COSV65571, Uncertain significance, not provided
- D50D (p.Asp50Asp), rs890469274, gnomAD 20-49299372-A-G, CADD 2.05
- D50V (p.Asp50Val), rs1982613470, gnomAD 20-49299373-T-A, CADD 17.00
- R51C (p.Arg51Cys), cosmic curated COSV65571, cosmic curated COSV10468
- R51H (p.Arg51His), NCI-TCGA TCGA novel, 1000Genomes rs2122803715, REVEL 0.79, CADD 29.80, Uncertain significance
- R51L (p.Arg51Leu), rs2122803715, ClinGen CA408951544, ClinVar RCV001992258, 1000Genomes rs2122803715, REVEL 0.88, CADD 29.40, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R51S (p.Arg51Ser), Ensembl rs2088013370, REVEL 0.69, CADD 28.60
- P53A (p.Pro53Ala), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- P53T (p.Pro53Thr), rs2516924520, ClinGen CA408951534, ClinVar RCV002296818, REVEL 0.93, CADD 27.80, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R54C (p.Arg54Cys), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, REVEL 0.69, CADD 32.00, Variant assessed as somatic; moderate impact.
- R54H (p.Arg54His), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65568, REVEL 0.47, CADD 24.10, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R54S (p.Arg54Ser), NCI-TCGA Cosmic COSV1008, REVEL 0.57, CADD 27.70, Variant assessed as somatic; moderate impact.
- R56Q (p.Arg56Gln), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65569, Variant assessed as somatic; moderate impact.
- R56W (p.Arg56Trp), rs2516924513, ClinGen CA408951450, ClinVar RCV004529830, ClinVar RCV004698883, Uncertain significance, KCNB1-related disorder; not provided
- K59* (p.Lys59Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; high impact.
- R61C (p.Arg61Cys), cosmic curated COSV65568
- R61H (p.Arg61His), rs2122803651, ClinGen CA408951313, ClinVar RCV002588851, Ensembl rs2122803651, REVEL 0.73, CADD 28.00, Benign, Developmental and epileptic encephalopathy, 26
- R61S (p.Arg61Ser), gnomAD rs1417246750, REVEL 0.63, CADD 24.80
- D62N (p.Asp62Asn), ExAC rs750685018, gnomAD rs750685018, REVEL 0.32, CADD 25.30
- T65M (p.Thr65Met), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65566, Variant assessed as somatic; moderate impact.
- D67A (p.Asp67Ala), TOPMed rs1191148690, gnomAD rs1191148690, REVEL 0.66, CADD 24.80
- D67H (p.Asp67His), NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6556, cosmic curated COSV65566, Variant assessed as somatic; moderate impact.
- D67N (p.Asp67Asn), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, NCI-TCGA Cosmic COSV6556, Variant assessed as somatic; moderate impact.
- D67V (p.Asp67Val), cosmic curated COSV10747
- S68* (p.Ser68Ter), rs201504536, ClinGen CA408951065, ClinVar RCV003587561, Likely benign
- S68L (p.Ser68Leu), 1000Genomes rs201504536, gnomAD rs201504536, REVEL 0.60, CADD 24.90
- L70H (p.Leu70His), cosmic curated COSV65571
- E71* (p.Glu71Ter), NCI-TCGA Cosmic COSV6556, Variant assessed as somatic; high impact.
- E71K (p.Glu71Lys), cosmic curated COSV65568
- C73S (p.Cys73Ser), cosmic curated COSV65571
- D74H (p.Asp74His), NCI-TCGA Cosmic COSV6556, Variant assessed as somatic; moderate impact.
- D74N (p.Asp74Asn), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65569, Uncertain significance, not provided
- D75Y (p.Asp75Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y76F (p.Tyr76Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S77R (p.Ser77Arg), Ensembl rs1980520141
- D79E (p.Asp79Glu), cosmic curated COSV10971, gnomAD rs1306293360, REVEL 0.12, CADD 11.60
- D79H (p.Asp79His), Ensembl rs1980520006
- D79N (p.Asp79Asn), rs1980520006, ClinGen CA408950854, ClinVar RCV003587480, Uncertain significance, Developmental and epileptic encephalopathy, 26
- D80G (p.Asp80Gly), rs1980519601, ClinGen CA408950830, ClinVar RCV003748650, Ensembl rs1980519601, REVEL 0.25, CADD 23.30, Benign, Developmental and epileptic encephalopathy, 26
- D80N (p.Asp80Asn), NCI-TCGA Cosmic COSV6557, cosmic curated COSV65570, Ensembl rs1980519741, REVEL 0.31, CADD 23.10, Variant assessed as somatic; moderate impact.
- N81I (p.Asn81Ile), rs2122803550, ClinGen CA408950784, ClinVar RCV001528113, Ensembl rs2122803550, Uncertain significance, Developmental and epileptic encephalopathy, 26
- E82K (p.Glu82Lys), rs1980519313, ClinGen CA408950777, ClinVar RCV002856838, ClinVar RCV005627463, Conflicting interpretations, Developmental and epileptic encephalopathy, 26; not provided
- E82Q (p.Glu82Gln), TOPMed rs1980519313
- Y83H (p.Tyr83His), cosmic curated COSV65566
- R87C (p.Arg87Cys), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65569, REVEL 0.89, CADD 32.00, Variant assessed as somatic; moderate impact.
- R87H (p.Arg87His), rs1407696419, TOPMed rs1407696419, gnomAD rs1407696419, REVEL 0.93, CADD 30.00, Variant assessed as somatic; moderate impact.
- H88Y (p.His88Tyr), cosmic curated COSV65566
- A91T (p.Ala91Thr), cosmic curated COSV10653, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S94F (p.Ser94Phe), cosmic curated COSV65568
- I95V (p.Ile95Val), gnomAD rs1316517874
- L96F (p.Leu96Phe), Ensembl rs34454438
- N97S (p.Asn97Ser), cosmic curated COSV10087
- F98S (p.Phe98Ser), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- R100C (p.Arg100Cys), rs2516924317, ClinGen CA408950365, ClinVar RCV003984936, NCI-TCGA Cosmic COSV6556, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R100H (p.Arg100His), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65567, Variant assessed as somatic; moderate impact.
- R103* (p.Arg103Ter), rs1601162563, ClinGen CA408950303, cosmic curated COSV65566, ClinVar RCV000822606, Uncertain significance
- R103L (p.Arg103Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R103Q (p.Arg103Gln), Ensembl rs866924758
- A112T (p.Ala112Thr), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65566, REVEL 0.59, CADD 27.40, Variant assessed as somatic; moderate impact.
- A112V (p.Ala112Val), cosmic curated COSV65568
- S114R (p.Ser114Arg), rs1980517037, ClinGen CA408950066, ClinVar RCV001755137, Ensembl rs1980517037, Uncertain significance, not provided
- S116N (p.Ser116Asn), NCI-TCGA Cosmic COSV6556, cosmic curated COSV65568, Variant assessed as somatic; moderate impact.
- Q117H (p.Gln117His), cosmic curated COSV65567
- E118* (p.Glu118Ter), NCI-TCGA Cosmic COSV6557, cosmic curated COSV65570, Variant assessed as somatic; high impact.
- E118Q (p.Glu118Gln), Ensembl rs2122803454
- D120N (p.Asp120Asn), cosmic curated COSV99056, REVEL 0.47, CADD 28.10
- W122* (p.Trp122Ter), cosmic curated COSV10747
- G123V (p.Gly123Val), rs2516924256, ClinGen CA408949917, ClinVar RCV002281363, Uncertain significance, not provided
- I124T (p.Ile124Thr), cosmic curated COSV10530
- D125E (p.Asp125Glu), 1000Genomes rs201414449, ESP rs201414449, ExAC rs201414449, TOPMed rs201414449, REVEL 0.51, CADD 23.30, Benign
- D125H (p.Asp125His), TOPMed rs1980516101
- D125N (p.Asp125Asn), NCI-TCGA Cosmic COSV6557, cosmic curated COSV65570, REVEL 0.59, CADD 24.50, Variant assessed as somatic; moderate impact.
- E126G (p.Glu126Gly), rs2516924216, ClinGen CA408949862, ClinVar RCV004528693, Uncertain significance, KCNB1-related disorder
- E126K (p.Glu126Lys), cosmic curated COSV65567, REVEL 0.83, CADD 28.70
- Y128N (p.Tyr128Asn), cosmic curated COSV65567
- L129P (p.Leu129Pro), cosmic curated COSV65567
- E130D (p.Glu130Asp), cosmic curated COSV65567
- C133Y (p.Cys133Tyr), cosmic curated COSV65569
- R136H (p.Arg136His), rs1980515306, ClinGen CA408949683, cosmic curated COSV10592, ClinVar RCV001935227, REVEL 0.82, CADD 28.30, Uncertain significance, Developmental and epileptic encephalopathy, 26
- R136L (p.Arg136Leu), cosmic curated COSV10747
- R136S (p.Arg136Ser), cosmic curated COSV65570
- Y137F (p.Tyr137Phe), rs2122803366, ClinGen CA408949668, ClinVar RCV001507471, Ensembl rs2122803366, Uncertain significance, not provided
- Y137L (p.Tyr137Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Q139* (p.Gln139Ter), NCI-TCGA Cosmic COSV6557, cosmic curated COSV65570, Variant assessed as somatic; high impact.
- K140N (p.Lys140Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E142K (p.Glu142Lys), cosmic curated COSV10468
- Q143R (p.Gln143Arg), Ensembl rs112771641
- M144I (p.Met144Ile), rs1179147119, gnomAD rs1179147119, ClinGen CA408949538, ClinVar RCV001221859, REVEL 0.46, CADD 22.50, Uncertain significance, Developmental and epileptic encephalopathy, 26
- M144L (p.Met144Leu), rs2516924168, cosmic curated COSV65570, ClinGen CA408949547, ClinVar RCV002284840, Uncertain significance, not provided
- M144T (p.Met144Thr), Ensembl rs1980514635, REVEL 0.79, CADD 26.10
- N145K (p.Asn145Lys), rs2516924162, ClinGen CA408949524, ClinVar RCV003586510, cosmic curated COSV65568, Uncertain significance, Developmental and epileptic encephalopathy, 26
- E146* (p.Glu146Ter), Ensembl rs1980514331
- E146K (p.Glu146Lys), NCI-TCGA Cosmic COSV6557, cosmic curated COSV65571, Variant assessed as somatic; moderate impact.
- E147D (p.Glu147Asp), rs1323895781, ClinGen CA408949488, ClinVar RCV003749881, ClinVar RCV004763740, Uncertain significance, Developmental and epileptic encephalopathy, 26; not provided
- L148F (p.Leu148Phe), TOPMed rs1479885168, gnomAD rs1479885168, REVEL 0.69, CADD 26.20
- K149R (p.Lys149Arg), rs373914175, ClinGen CA9903207, ClinVar RCV003884994, ClinVar RCV005101455, REVEL 0.36, CADD 20.80, Uncertain significance, Developmental and epileptic encephalopathy, 26; not provided
- R150C (p.Arg150Cys), cosmic curated COSV65567
Public KCNB1 analysis runs
- KCNB1 analysis run — KCNB1 (1,560 variants) — completed 2026-08-20