KCNA2 (P16389) variants and mutations
KCNA2 (also known as P16389) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily A member 2 protein. Its current helps repolarize neuronal membranes and regulate action-potential firing and neurotransmitter release. Both loss- and gain-of-function variants can cause developmental and epileptic encephalopathy, often with ataxia, movement abnormalities, or intellectual disability. This analysis covers 1,013 KCNA2 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes undetermined early-onset epileptic encephalopathy, genetic developmental and epileptic encephalopathy, and multiple sclerosis. Example KCNA2 variants include M1?, A4V, and T5N.
Variant analysis overview
- Gene: KCNA2
- Protein: P16389
- UniProt accession: P16389
- Organism: Homo sapiens
- Variants analyzed: 1013
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 603 unspecified-consequence records; 2 stop retained variant; 3 stop lost; 199 synonymous variants; 175 missense variants; 11 stop-gained variants; 12 frameshift variants; 2 splice-region variants; 2 protein altering variant; 1 in-frame deletions; 3 substitution
- Prediction scores: 716 variants have prediction scores (71% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: undetermined early-onset epileptic encephalopathy, genetic developmental and epileptic encephalopathy, multiple sclerosis, Lambert-Eaton myasthenic syndrome, myasthenia gravis, hereditary disease, Seizure, Congenital myasthenic syndromes, congenital myasthenic syndrome, Epileptic encephalopathy, Muscle weakness, Nizon-Isidor syndrome.
Protein structure and variant hotspots
- Protein features: 6 transmembrane segments; 8 post-translational modification sites.
- Structural context: 283 variants have structural context.
- PTM context: 15 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable KCNA2 variants
Examples include M1?, A4V, T5N, G6R, D7A, D7N, D7V, P8L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV60369
- A4V (p.Ala4Val), cosmic curated COSV60371, TOPMed rs1649524994
- T5N (p.Thr5Asn), ExAC rs780224375, gnomAD rs780224375, REVEL 0.46, CADD 19.40
- G6R (p.Gly6Arg), rs770338663, ClinGen CA28809338, NCI-TCGA Cosmic COSV6037, cosmic curated COSV60371, REVEL 0.43, CADD 24.50, Conflicting interpretations, Autism spectrum disorder; Developmental and epileptic encephalopathy, 32
- D7A (p.Asp7Ala), ExAC rs746657035, gnomAD rs746657035, Uncertain significance
- D7N (p.Asp7Asn), Ensembl rs2101404751, REVEL 0.47, CADD 23.50
- D7V (p.Asp7Val), rs746657035, ClinVar RCV004585176, ExAC rs746657035, gnomAD rs746657035, REVEL 0.68, CADD 25.60, Uncertain significance, Developmental and epileptic encephalopathy, 32
- P8L (p.Pro8Leu), rs1487522107, ClinGen CA341607420, cosmic curated COSV10647, ClinVar RCV001306291, REVEL 0.31, AlphaMissense 0.08, Uncertain significance, Developmental and epileptic encephalopathy, 32
- P8Q (p.Pro8Gln), rs1487522107, ClinGen CA341607422, ClinVar RCV003589425, cosmic curated COSV10514, AlphaMissense 0.08, MetaLR 0.58, Uncertain significance, Developmental and epileptic encephalopathy, 32
- A9T (p.Ala9Thr), TOPMed rs1193386226, Uncertain significance, Developmental and epileptic encephalopathy, 32
- A9V (p.Ala9Val), cosmic curated COSV10514
- E11K (p.Glu11Lys), cosmic curated COSV60369, ExAC rs752100849, TOPMed rs752100849, REVEL 0.56, CADD 22.80, Uncertain significance, Developmental and epileptic encephalopathy, 32
- A12V (p.Ala12Val), rs372822052, ClinGen CA1000760, ClinVar RCV000821582, ClinVar RCV001575914, REVEL 0.23, CADD 22.50, Likely benign, Developmental and epileptic encephalopathy, 32; not provided; Inborn genetic dis
- A13V (p.Ala13Val), rs2524623909, ClinGen CA341607340, ClinVar RCV003754544, REVEL 0.21, CADD 22.00, Uncertain significance, Developmental and epileptic encephalopathy, 32
- A14V (p.Ala14Val), cosmic curated COSV10460, REVEL 0.31, CADD 22.70
- L15V (p.Leu15Val), rs1649522982, ClinGen CA341607327, ClinVar RCV001320298, Ensembl rs1649522982, AlphaMissense 0.07, MetaLR 0.59, Uncertain significance, Developmental and epileptic encephalopathy, 32
- P16H (p.Pro16His), NCI-TCGA Cosmic COSV6037, cosmic curated COSV60370, Variant assessed as somatic; moderate impact.
- P16R (p.Pro16Arg), rs1649522718, ClinGen CA341607311, ClinVar RCV001224485, Ensembl rs1649522718, AlphaMissense 0.16, MetaLR 0.80, Uncertain significance, Developmental and epileptic encephalopathy, 32
- P16S (p.Pro16Ser), rs1570754155, ClinGen CA341607313, cosmic curated COSV10647, ClinVar RCV000821856, REVEL 0.43, CADD 22.30, Uncertain significance, Developmental and epileptic encephalopathy, 32
- G17E (p.Gly17Glu), rs2524623847, ClinGen CA341607306, ClinVar RCV004552871, Uncertain significance, KCNA2-related disorder
- G17V (p.Gly17Val), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10031, Variant assessed as somatic; moderate impact.
- H18R (p.His18Arg), rs754808361, ClinGen CA1000759, ClinVar RCV003590923, ExAC rs754808361, REVEL 0.29, CADD 18.00, Uncertain significance, Developmental and epileptic encephalopathy, 32
- Q20R (p.Gln20Arg), NCI-TCGA Cosmic COSV6037, cosmic curated COSV60370, REVEL 0.48, CADD 22.00, Variant assessed as somatic; moderate impact.
- D21N (p.Asp21Asn), rs2524623801, ClinGen CA341607234, ClinVar RCV003018740, cosmic curated COSV10514, Uncertain significance, Developmental and epileptic encephalopathy, 32
- D21V (p.Asp21Val), TOPMed rs1649522435, REVEL 0.74, CADD 26.30
- T22S (p.Thr22Ser), rs1403692006, ClinGen CA341607195, ClinVar RCV002131158, TOPMed rs1403692006, REVEL 0.21, CADD 16.60, Likely benign, Developmental and epileptic encephalopathy, 32
- Y23C (p.Tyr23Cys), rs753829876, ClinGen CA1000758, ClinVar RCV000558487, ClinVar RCV002367957, REVEL 0.69, CADD 24.80, Conflicting interpretations, Inborn genetic diseases; Developmental and epileptic encephalopathy, 32
- D24A (p.Asp24Ala), rs2524623740, ClinGen CA341607156, ClinVar RCV003591075, Uncertain significance, Developmental and epileptic encephalopathy, 32
- D24N (p.Asp24Asn), cosmic curated COSV60368
- D24Y (p.Asp24Tyr), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10031, NCI-TCGA Cosmic COSV6036, Variant assessed as somatic; moderate impact.
- P25L (p.Pro25Leu), rs2524623689, ClinGen CA341607133, ClinVar RCV003754710, Uncertain significance, Developmental and epileptic encephalopathy, 32
- P25S (p.Pro25Ser), TOPMed rs775717316, REVEL 0.40, CADD 21.50, Uncertain significance, Developmental and epileptic encephalopathy, 32
- E26* (p.Glu26Ter), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10031, Variant assessed as somatic; high impact.
- A27T (p.Ala27Thr), rs750618978, ClinGen CA1000755, ClinVar RCV001405974, ClinVar RCV005437136, REVEL 0.21, CADD 20.60, Likely benign, Developmental and epileptic encephalopathy, 32; not specified
- H29P (p.His29Pro), rs2524623592, ClinGen CA341607054, ClinVar RCV003589354, Uncertain significance, Developmental and epileptic encephalopathy, 32
- E30K (p.Glu30Lys), TOPMed rs1649520263, gnomAD rs1649520263, REVEL 0.57, CADD 22.90
- R34K (p.Arg34Lys), TOPMed rs1649520024
- R34S (p.Arg34Ser), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10031, Variant assessed as somatic; moderate impact.
- V35E (p.Val35Glu), cosmic curated COSV10814
- V35G (p.Val35Gly), Ensembl rs1570754087
- V35M (p.Val35Met), cosmic curated COSV60369, ExAC rs762125530, gnomAD rs762125530, REVEL 0.78, CADD 25.50
- V36M (p.Val36Met), Ensembl rs954141535, REVEL 0.70, CADD 25.70
- V36A (p.Val36Ala), gnomAD 1-110602141-A-G, CADD 0.14
- N38S (p.Asn38Ser), NCI-TCGA Cosmic COSV6037, cosmic curated COSV60370, Variant assessed as somatic; moderate impact.
- I39L (p.Ile39Leu), TOPMed rs1649518908
- S40R (p.Ser40Arg), gnomAD 1-110602137-G-T, CADD 5.55
- G41A (p.Gly41Ala), NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, Variant assessed as somatic; moderate impact.
- R43Q (p.Arg43Gln), cosmic curated COSV60370, gnomAD rs772058917, REVEL 0.81, CADD 27.10, Uncertain significance, Developmental and epileptic encephalopathy, 32
- R43W (p.Arg43Trp), rs2101404053, ClinGen CA341606796, cosmic curated COSV10885, ClinVar RCV001758334, REVEL 0.85, CADD 29.30, Uncertain significance, Developmental and epileptic encephalopathy, 32; not provided
- R43R (p.Arg43Arg), gnomAD 1-110603894-G-T, CADD 13.60
- T46N (p.Thr46Asn), cosmic curated COSV60368
- Q47H (p.Gln47His), rs1313231897, ClinGen CA341606685, ClinVar RCV002615769, TOPMed rs1313231897, REVEL 0.53, CADD 22.60, Uncertain significance, Developmental and epileptic encephalopathy, 32
- L51I (p.Leu51Ile), Ensembl rs2101403936, REVEL 0.73, CADD 23.90, Likely benign
- A52V (p.Ala52Val), rs2524623311, ClinGen CA341606606, ClinVar RCV003753560, Uncertain significance, Developmental and epileptic encephalopathy, 32
- Q53H (p.Gln53His), TOPMed rs1649517826
- F54L (p.Phe54Leu), Ensembl rs1649517668
- P55L (p.Pro55Leu), cosmic curated COSV60371
- E56* (p.Glu56Ter), cosmic curated COSV10031
- E56Q (p.Glu56Gln), rs1039144241, ClinGen CA28809250, ClinVar RCV003753413, TOPMed rs1039144241, REVEL 0.40, CADD 23.50, Uncertain significance, Developmental and epileptic encephalopathy, 32
- E56G (p.Glu56Gly), rs967536712, gnomAD 1-110602132-T-C, CADD 8.79
- T57I (p.Thr57Ile), rs1649517174, ClinGen CA341606535, ClinVar RCV001236369, Ensembl rs1649517174, AlphaMissense 1.00, MetaLR 0.83, Uncertain significance, Developmental and epileptic encephalopathy, 32
- L58F (p.Leu58Phe), rs2524623179, ClinGen CA341606522, ClinVar RCV003589430, Uncertain significance, Developmental and epileptic encephalopathy, 32
- G60E (p.Gly60Glu), cosmic curated COSV60371
- G60D (p.Gly60Asp), rs1404032847, gnomAD 1-110602129-C-T, CADD 4.04
- D61G (p.Asp61Gly), gnomAD 1-110602162-T-C, CADD 9.36
- K63N (p.Lys63Asn), rs2524623147, cosmic curated COSV60369, ClinGen CA341606472, ClinVar RCV003045724, Uncertain significance, Developmental and epileptic encephalopathy, 32
- R65* (p.Arg65Ter), rs763353895, ClinGen CA1000750, NCI-TCGA Cosmic COSV6037, cosmic curated COSV60370, CADD 36.00, Likely pathogenic
- R65L (p.Arg65Leu), cosmic curated COSV10441, Uncertain significance, Developmental and epileptic encephalopathy, 32
- R65Q (p.Arg65Gln), rs1649516324, ClinGen CA341606461, NCI-TCGA Cosmic COSV1044, NCI-TCGA Cosmic COSV6036, REVEL 0.70, CADD 27.30, Uncertain significance, Developmental and epileptic encephalopathy, 32; not provided
- R65R (p.Arg65Arg), gnomAD 1-110604588-T-C, CADD 11.80
- M66I (p.Met66Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M66V (p.Met66Val), gnomAD 1-110604587-T-C, REVEL 0.27, CADD 20.80
- M66L (p.Met66Leu), gnomAD 1-110604587-T-A, REVEL 0.25, CADD 20.50
- R67K (p.Arg67Lys), Ensembl rs2101403634
- Y68* (p.Tyr68Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Y68F (p.Tyr68Phe), NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, Variant assessed as somatic; moderate impact.
- Y68Y (p.Tyr68Tyr), rs776134187, gnomAD 1-110604579-G-A, CADD 8.75
- D70V (p.Asp70Val), ESP rs376402499, ExAC rs376402499, gnomAD rs376402499
- D70D (p.Asp70Asp), rs746284859, gnomAD 1-110604573-G-A, CADD 4.84
- D70H (p.Asp70His), gnomAD 1-110604575-C-G, REVEL 0.85, CADD 25.90
- P71L (p.Pro71Leu), rs2524623005, ClinGen CA341606385, ClinVar RCV002466849, Uncertain significance, Developmental and epileptic encephalopathy, 32
- P71S (p.Pro71Ser), Ensembl rs867113839, REVEL 0.51, CADD 24.20
- P71T (p.Pro71Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P71P (p.Pro71Pro), rs116111724, gnomAD 1-110604570-G-C, CADD 8.96
- L72L (p.Leu72Leu), rs1283514787, gnomAD 1-110604567-G-A, CADD 7.95
- L72S (p.Leu72Ser), gnomAD 1-110604568-AG-A, CADD 26.90
- R73* (p.Arg73Ter), rs1570753974, ClinGen CA341606364, NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, CADD 35.00, Likely pathogenic
- R73Q (p.Arg73Gln), rs373042266, ClinGen CA1000745, cosmic curated COSV60368, ClinVar RCV000705035, REVEL 0.68, CADD 27.10, Uncertain significance, Developmental and epileptic encephalopathy, 32
- Y76* (p.Tyr76Ter), gnomAD 1-110604555-G-T, CADD 35.00
- F78L (p.Phe78Leu), cosmic curated COSV10514
- F78S (p.Phe78Ser), Ensembl rs2101403417
- F78F (p.Phe78Phe), rs1384622440, gnomAD 1-110604549-G-A, CADD 8.15
- D79H (p.Asp79His), rs747844549, ClinGen CA1000744, ClinVar RCV003754161, ExAC rs747844549, REVEL 0.94, AlphaMissense 0.99, Uncertain significance, Developmental and epileptic encephalopathy, 32
- D79N (p.Asp79Asn), rs747844549, ClinGen CA341606287, cosmic curated COSV60369, ClinVar RCV001223588, REVEL 0.81, AlphaMissense 0.99, Uncertain significance, Developmental and epileptic encephalopathy, 32
- D79Y (p.Asp79Tyr), rs747844549, ClinGen CA341606284, ClinVar RCV001339653, ClinVar RCV001762563, AlphaMissense 0.99, MetaLR 0.88, Uncertain significance, Developmental and epileptic encephalopathy, 32; not provided
- D79D (p.Asp79Asp), gnomAD 1-110604546-A-G, CADD 8.47
- R80L (p.Arg80Leu), NCI-TCGA Cosmic COSV6037, cosmic curated COSV60371, Variant assessed as somatic; moderate impact.
- R80Q (p.Arg80Gln), rs1649513909, ClinGen CA341606271, NCI-TCGA Cosmic COSV6037, ClinVar RCV001057465, REVEL 0.85, CADD 27.30, Conflicting interpretations, Developmental and epileptic encephalopathy, 32; not provided
- R80W (p.Arg80Trp), rs1448937059, ClinGen CA341606273, cosmic curated COSV60371, ClinVar RCV000704983, REVEL 0.83, CADD 28.90, Uncertain significance, Developmental and epileptic encephalopathy, 32; not provided
- R80R (p.Arg80Arg), rs1448937059, gnomAD 1-110604545-G-T, CADD 11.80
- R82C (p.Arg82Cys), rs1433727837, ClinGen CA341606249, NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, REVEL 0.79, CADD 29.20, Uncertain significance, Developmental and epileptic encephalopathy, 32
- R82H (p.Arg82His), rs1386301058, ClinGen CA341606246, NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, REVEL 0.78, CADD 26.80, Uncertain significance, Developmental and epileptic encephalopathy, 32
- R82L (p.Arg82Leu), NCI-TCGA Cosmic COSV6036, NCI-TCGA Cosmic COSV6037, cosmic curated COSV60370, Variant assessed as somatic; moderate impact.
- R82S (p.Arg82Ser), NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, Variant assessed as somatic; moderate impact.
- R82R (p.Arg82Arg), rs778231995, gnomAD 1-110604537-G-A, CADD 9.79
- R82A (p.Arg82Ala), gnomAD 1-110604538-CG-C, CADD 27.50
- R82G (p.Arg82Gly), gnomAD 1-110604539-G-C, REVEL 0.60, CADD 26.80
- P83L (p.Pro83Leu), rs1649512695, ClinGen CA341606227, ClinVar RCV003257387, ClinVar RCV004548558, REVEL 0.57, CADD 24.40, Uncertain significance, Inborn genetic diseases; KCNA2-related disorder
- P83R (p.Pro83Arg), gnomAD 1-110604535-G-C, REVEL 0.54, CADD 26.90
- S84S (p.Ser84Ser), rs754576569, gnomAD 1-110604531-G-A, CADD 10.90
- F85F (p.Phe85Phe), gnomAD 1-110604528-A-G, CADD 9.18
- F85S (p.Phe85Ser), gnomAD 1-110604529-A-G, REVEL 0.96, CADD 29.70
- D86D (p.Asp86Asp), rs1649512388, gnomAD 1-110604525-A-G, CADD 9.75
- D86E (p.Asp86Glu), gnomAD 1-110604525-A-T, REVEL 0.46, CADD 22.20
- A87G (p.Ala87Gly), rs2524622684, ClinGen CA341606170, ClinVar RCV002948439, Uncertain significance, Developmental and epileptic encephalopathy, 32
- A87A (p.Ala87Ala), rs749146957, gnomAD 1-110604522-G-A, CADD 12.00
- A87T (p.Ala87Thr), gnomAD 1-110604524-C-T, REVEL 0.69, CADD 25.90
- I88V (p.Ile88Val), TOPMed rs1161306229, gnomAD rs1161306229, REVEL 0.46, CADD 23.60
- L89L (p.Leu89Leu), rs1338425720, gnomAD 1-110604516-C-T, CADD 9.00
- L89W (p.Leu89Trp), gnomAD 1-110604517-A-C, REVEL 0.95, CADD 28.20
- Y90H (p.Tyr90His), ExAC rs780012503, TOPMed rs780012503, gnomAD rs780012503, REVEL 0.72, CADD 27.60
- Y90Y (p.Tyr90Tyr), rs756064094, gnomAD 1-110604513-G-A, CADD 9.49
- Y90C (p.Tyr90Cys), gnomAD 1-110604514-T-C, REVEL 0.89, CADD 28.30
- Y91N (p.Tyr91Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y91Y (p.Tyr91Tyr), rs750174299, gnomAD 1-110604510-G-A, CADD 6.69
- Y92H (p.Tyr92His), cosmic curated COSV60371
- Y92Y (p.Tyr92Tyr), gnomAD 1-110602003-A-G, CADD 9.14
- Y92* (p.Tyr92Ter), gnomAD 1-110602009-A-T, CADD 14.80
- Y92C (p.Tyr92Cys), gnomAD 1-110602010-T-C, CADD 16.00
- Y92del (p.Tyr92del), gnomAD 1-110604506-GGTA-, CADD 19.70
- Y92S (p.Tyr92Ser), gnomAD 1-110604508-T-G, REVEL 0.94, CADD 28.50
- Q93* (p.Gln93Ter), rs1649511099, ClinGen CA341606085, ClinVar RCV001296289, Ensembl rs1649511099, Uncertain significance
- S94* (p.Ser94Ter), NCI-TCGA Cosmic COSV6036, Variant assessed as somatic; high impact.
- S94L (p.Ser94Leu), cosmic curated COSV60369
- S94P (p.Ser94Pro), cosmic curated COSV60370
- S94S (p.Ser94Ser), rs1339232238, gnomAD 1-110602015-A-G, CADD 13.90
- S94Y (p.Ser94Tyr), gnomAD 1-110602019-G-T, CADD 14.20
- S94T (p.Ser94Thr), gnomAD 1-110604503-A-T, REVEL 0.46, CADD 23.90
- G95E (p.Gly95Glu), TOPMed rs1649510500
- G95W (p.Gly95Trp), NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, Variant assessed as somatic; moderate impact.
- G95G (p.Gly95Gly), rs767304308, gnomAD 1-110604498-C-T, CADD 9.47
- G95A (p.Gly95Ala), gnomAD 1-110604499-C-G, REVEL 0.72, CADD 24.70
- G96A (p.Gly96Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G96D (p.Gly96Asp), ExAC rs757363655, gnomAD rs757363655, REVEL 0.86, CADD 25.60
- G96G (p.Gly96Gly), gnomAD 1-110604495-G-A, CADD 12.40
- G96P (p.Gly96Pro), rs1570753862, gnomAD 1-110604499-CCT-C, CADD 26.40
- R97* (p.Arg97Ter), rs2524622426, ClinGen CA341606039, ClinVar RCV003043659, CADD 36.00, Uncertain significance
- R97Q (p.Arg97Gln), rs1194485302, ClinGen CA341606036, ClinVar RCV001253444, ClinVar RCV005652583, REVEL 0.67, CADD 27.10, Uncertain significance, Inborn genetic diseases; Developmental and epileptic encephalopathy, 32
- R97R (p.Arg97Arg), gnomAD 1-110604492-T-C, CADD 10.00
- R97P (p.Arg97Pro), gnomAD 1-110604493-C-G, REVEL 0.85, CADD 27.30
- L98F (p.Leu98Phe), NCI-TCGA Cosmic COSV6037, cosmic curated COSV60371, Variant assessed as somatic; moderate impact.
- L98L (p.Leu98Leu), rs369845519, gnomAD 1-110604491-A-G, CADD 1.56
- R99K (p.Arg99Lys), rs2524622393, ClinGen CA341606011, ClinVar RCV002442079, ClinVar RCV006471374, REVEL 0.43, CADD 22.30, Uncertain significance, Developmental and epileptic encephalopathy, 32; Inborn genetic diseases
- R100* (p.Arg100Ter), rs1649509389, ClinGen CA341606001, ClinVar RCV001250736, Ensembl rs1649509389, CADD 36.00, Pathogenic
- R100Q (p.Arg100Gln), rs1649509246, ClinGen CA341605995, NCI-TCGA Cosmic COSV6036, cosmic curated COSV60369, REVEL 0.73, CADD 27.50, Uncertain significance, Developmental and epileptic encephalopathy, 32
- P101L (p.Pro101Leu), gnomAD rs1212004960
- P101P (p.Pro101Pro), gnomAD 1-110604480-A-G, CADD 5.20
- V102E (p.Val102Glu), Ensembl rs967816533
- V102I (p.Val102Ile), rs1649376106, gnomAD 1-110602014-C-T, CADD 15.30
- V102L (p.Val102Leu), gnomAD 1-110602014-C-A, CADD 15.10
- V102G (p.Val102Gly), gnomAD 1-110604478-A-C, REVEL 0.72, CADD 29.30
- N103S (p.Asn103Ser), rs1361080553, ClinGen CA341605963, ClinVar RCV001956942, TOPMed rs1361080553, AlphaMissense 0.11, MetaLR 0.29, Uncertain significance, Developmental and epileptic encephalopathy, 32
- N103T (p.Asn103Thr), rs1361080553, ClinGen CA341605966, ClinVar RCV002805926, AlphaMissense 0.11, MetaLR 0.29, Uncertain significance, Developmental and epileptic encephalopathy, 32
- V104A (p.Val104Ala), cosmic curated COSV60371
- V104F (p.Val104Phe), gnomAD 1-110601978-C-A, CADD 8.31
- V104I (p.Val104Ile), rs770186277, gnomAD 1-110601978-C-T, CADD 8.86
- V104L (p.Val104Leu), rs770186277, gnomAD 1-110601978-C-G, CADD 8.47
- P105R (p.Pro105Arg), NCI-TCGA Cosmic COSV6037, cosmic curated COSV60371, Variant assessed as somatic; moderate impact.
- P105S (p.Pro105Ser), cosmic curated COSV60370
- P105T (p.Pro105Thr), NCI-TCGA Cosmic COSV6037, cosmic curated COSV60371, Variant assessed as somatic; moderate impact.
- P105L (p.Pro105Leu), gnomAD 1-110601968-G-A, CADD 12.90
- L106* (p.Leu106Ter), NCI-TCGA Cosmic COSV1003, Variant assessed as somatic; high impact.
- L106S (p.Leu106Ser), rs2101402741, ClinGen CA341605932, cosmic curated COSV10031, ClinVar RCV001957949, AlphaMissense 0.86, MetaLR 0.46, Uncertain significance, Developmental and epileptic encephalopathy, 32
- L106L (p.Leu106Leu), rs1297779910, gnomAD 1-110601970-T-C, CADD 13.20
- L106P (p.Leu106Pro), rs775278121, gnomAD 1-110601971-A-G, CADD 15.10
- L106F (p.Leu106Phe), rs1409728773, gnomAD 1-110601985-AAG-A, CADD 10.60
- L106R (p.Leu106Arg), gnomAD 1-110601986-A-C, CADD 13.90
- L106V (p.Leu106Val), rs1398529417, gnomAD 1-110601987-G-C, CADD 11.40
- D107Y (p.Asp107Tyr), cosmic curated COSV60370
- I108M (p.Ile108Met), rs765790719, NCI-TCGA Cosmic COSV1003, cosmic curated COSV10031, ExAC rs765790719, REVEL 0.42, CADD 13.30, Variant assessed as somatic; moderate impact.
Public KCNA2 analysis runs
- KCNA2 analysis run — KCNA2 (1,013 variants) — completed 2026-08-20