KCNA1 (Q09470) variants and mutations
KCNA1 (also known as Q09470) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily A member 1 protein. Its potassium current limits neuronal excitability and shapes action-potential repolarization, especially in axons and presynaptic terminals. Pathogenic variants classically cause episodic ataxia type 1 and can also produce epilepsy, myokymia, and related neurologic phenotypes. This analysis covers 1,165 KCNA1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes episodic ataxia type 1, hereditary continuous muscle fiber activity, and multiple sclerosis. Example KCNA1 variants include M1L, M1R, and M1T.
Variant analysis overview
- Gene: KCNA1
- Protein: Q09470
- UniProt accession: Q09470
- Organism: Homo sapiens
- Variants analyzed: 1165
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 674 unspecified-consequence records; 3 in-frame insertions; 267 synonymous variants; 183 missense variants; 16 stop-gained variants; 16 frameshift variants; 6 in-frame deletions
- Prediction scores: 888 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: episodic ataxia type 1, hereditary continuous muscle fiber activity, multiple sclerosis, myasthenia gravis, Lambert-Eaton myasthenic syndrome, Congenital myasthenic syndromes, congenital myasthenic syndrome, hereditary disease, Familial paroxysmal ataxia, Familial dyskinesia and facial myokymia, Myokymia, Muscle weakness.
Protein structure and variant hotspots
- Protein features: 6 transmembrane segments; 6 post-translational modification sites.
- Structural context: 301 variants have structural context.
- PTM context: 11 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, MaveDB, LitVar.
Notable KCNA1 variants
Examples include M1L, M1R, M1T, M1V, T2K, T2M, T2R, T2T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs776861490, ClinGen CA383453584, ClinVar RCV001217763, Uncertain significance, Episodic ataxia type 1
- M1R (p.Met1Arg), rs1947350138, ClinGen CA383453587, ClinVar RCV001241850, Uncertain significance, Episodic ataxia type 1
- M1T (p.Met1Thr), rs1947350138, ClinGen CA383453586, ClinVar RCV002003026, MutPred 0.96, Uncertain significance, Episodic ataxia type 1
- M1V (p.Met1Val), rs776861490, ClinGen CA6399322, ClinVar RCV001113418, MutPred 0.95, Benign, Episodic ataxia type 1
- T2K (p.Thr2Lys), rs762038042, ClinGen CA383453594, ClinVar RCV003626970, MutPred 0.33, Uncertain significance, Episodic ataxia type 1
- T2M (p.Thr2Met), NCI-TCGA Cosmic COSV6683, REVEL 0.77, CADD 26.20, Variant assessed as somatic; moderate impact.
- T2R (p.Thr2Arg), ExAC rs762038042, TOPMed rs762038042, gnomAD rs762038042, REVEL 0.72, CADD 23.60, Uncertain significance, Episodic ataxia type 1
- T2T (p.Thr2Thr), gnomAD 12-4911384-G-C, CADD 10.00
- p.Val3dup, gnomAD 12-4911383-C-CGGT, CADD 20.70
- V3A (p.Val3Ala), gnomAD 12-4911386-T-C, REVEL 0.64, MetaLR 0.84
- V3V (p.Val3Val), rs1947350178, gnomAD 12-4911387-G-T, CADD 10.70
- M4I (p.Met4Ile), rs773128496, ExAC rs773128496, TOPMed rs773128496, gnomAD rs773128496, REVEL 0.27, CADD 22.80, Uncertain significance, Inborn genetic diseases; not provided
- M4L (p.Met4Leu), TOPMed rs1358355196
- M4V (p.Met4Val), TOPMed rs1358355196, REVEL 0.33, CADD 15.10
- S5F (p.Ser5Phe), rs1947350227, ClinGen CA383453614, ClinVar RCV001971009, Ensembl rs1947350227, MutPred 0.34, Uncertain significance, Episodic ataxia type 1
- S5T (p.Ser5Thr), gnomAD 12-4911391-T-A, REVEL 0.31, MetaLR 0.56
- S5P (p.Ser5Pro), gnomAD 12-4911391-T-C, REVEL 0.35, MetaLR 0.70
- S5S (p.Ser5Ser), rs1290463805, gnomAD 12-4911393-T-A, CADD 3.53
- G6A (p.Gly6Ala), rs962697658, ClinGen CA231855278, ClinVar RCV003627242, gnomAD rs962697658, MutPred 0.27, Uncertain significance, Episodic ataxia type 1
- G6E (p.Gly6Glu), gnomAD rs962697658, Uncertain significance
- G6R (p.Gly6Arg), rs754549386, ClinGen CA231855270, ClinVar RCV001973645, Ensembl rs754549386, REVEL 0.42, CADD 23.20, Uncertain significance, Episodic ataxia type 1
- G6W (p.Gly6Trp), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- G6G (p.Gly6Gly), rs766476165, gnomAD 12-4911396-G-A, CADD 11.40
- E7K (p.Glu7Lys), rs529968149, ClinGen CA6399328, ClinVar RCV001113419, ClinVar RCV004800697, REVEL 0.42, CADD 25.00, Uncertain significance, Episodic ataxia type 1; not specified; not provided
- E7E (p.Glu7Glu), gnomAD 12-4911399-G-A, CADD 8.55
- N8I (p.Asn8Ile), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- N8K (p.Asn8Lys), rs1477627699, ClinGen CA383453633, ClinVar RCV001865061, TOPMed rs1477627699, REVEL 0.25, CADD 15.50, Uncertain significance, Episodic ataxia type 1
- N8N (p.Asn8Asn), rs1477627699, gnomAD 12-4911402-C-T, CADD 9.15
- V9L (p.Val9Leu), TOPMed rs1194152428, gnomAD rs1194152428, NCI-TCGA Cosmic COSV1012, REVEL 0.12, CADD 17.20, Uncertain significance
- V9M (p.Val9Met), rs1194152428, ClinGen CA383453636, ClinVar RCV003276676, ClinVar RCV005102613, REVEL 0.17, CADD 19.20, Uncertain significance, Inborn genetic diseases; Episodic ataxia type 1
- V9V (p.Val9Val), gnomAD 12-4911405-G-T, CADD 7.78
- D10E (p.Asp10Glu), rs1471834737, ClinGen CA383453646, ClinVar RCV000795415, gnomAD rs1471834737, REVEL 0.24, CADD 16.10, Uncertain significance, not provided; Episodic ataxia type 1
- D10G (p.Asp10Gly), ExAC rs759152813, gnomAD rs759152813, REVEL 0.39, CADD 22.80
- D10Y (p.Asp10Tyr), NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- E11* (p.Glu11Ter), rs2497351218, ClinGen CA383453648, ClinVar RCV003052537, Uncertain significance
- E11A (p.Glu11Ala), gnomAD rs1163240946, REVEL 0.46, CADD 23.90
- E11K (p.Glu11Lys), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- E11V (p.Glu11Val), gnomAD rs1163240946, REVEL 0.73, CADD 26.50
- E11D (p.Glu11Asp), gnomAD 12-4911411-G-C, REVEL 0.34, MetaLR 0.76
- A12P (p.Ala12Pro), rs1947350470, ClinGen CA383453657, ClinVar RCV003877634, TOPMed rs1947350470, MutPred 0.27, Uncertain significance, Episodic ataxia type 1
- A12V (p.Ala12Val), rs2137672654, ClinGen CA383453659, ClinVar RCV001927719, Ensembl rs2137672654, REVEL 0.28, CADD 22.40, Uncertain significance, Episodic ataxia type 1
- S13* (p.Ser13Ter), rs1253210703, ClinGen CA383453664, ClinVar RCV002044379, TOPMed rs1253210703, MutPred 0.35, Uncertain significance
- S13L (p.Ser13Leu), rs1253210703, ClinGen CA383453666, NCI-TCGA Cosmic COSV6683, ClinVar RCV001757559, REVEL 0.30, CADD 22.40, Uncertain significance, not provided
- S13P (p.Ser13Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S13S (p.Ser13Ser), gnomAD 12-4911417-G-A, CADD 8.38
- A14S (p.Ala14Ser), rs752293178, ClinGen CA6399331, ClinVar RCV003628595, ExAC rs752293178, REVEL 0.19, CADD 21.00, Uncertain significance, Episodic ataxia type 1
- A14T (p.Ala14Thr), NCI-TCGA Cosmic COSV6683, REVEL 0.22, CADD 21.90, Variant assessed as somatic; moderate impact.
- A14A (p.Ala14Ala), rs375361885, gnomAD 12-4911420-C-T, CADD 12.30
- A15P (p.Ala15Pro), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- A15S (p.Ala15Ser), rs777276806, ClinGen CA6399333, ClinVar RCV001235151, ClinVar RCV003263870, REVEL 0.24, CADD 14.20, Uncertain significance, Inborn genetic diseases; Episodic ataxia type 1
- A15T (p.Ala15Thr), rs777276806, ClinGen CA383453672, ClinVar RCV002294833, REVEL 0.20, CADD 16.10, Uncertain significance, Episodic ataxia type 1
- A15V (p.Ala15Val), rs543311674, ClinGen CA231855305, NCI-TCGA Cosmic COSV6683, ClinVar RCV002800709, REVEL 0.24, CADD 19.60, Uncertain significance, Episodic ataxia type 1
- A15A (p.Ala15Ala), rs750848000, gnomAD 12-4911423-C-A, CADD 10.30
- P16L (p.Pro16Leu), rs1360223867, gnomAD rs1360223867, REVEL 0.39, CADD 22.60, Variant assessed as somatic; moderate impact.
- P16Q (p.Pro16Gln), gnomAD rs1360223867, REVEL 0.39, CADD 22.30
- P16R (p.Pro16Arg), rs1565432905, NCI-TCGA Cosmic COSV6683, REVEL 0.40, CADD 23.40, Variant assessed as somatic; high impact.
- P16A (p.Pro16Ala), gnomAD 12-4911424-C-G, REVEL 0.33, MetaLR 0.74
- P16P (p.Pro16Pro), rs1206027538, gnomAD 12-4911426-G-A, CADD 7.84
- G17R (p.Gly17Arg), rs1324506346, ClinGen CA383453683, ClinVar RCV001228030, TOPMed rs1324506346, REVEL 0.38, CADD 23.40, Uncertain significance, Episodic ataxia type 1
- G17V (p.Gly17Val), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- G17S (p.Gly17Ser), gnomAD 12-4911427-G-A, REVEL 0.37, MetaLR 0.77
- G17G (p.Gly17Gly), rs1382488937, gnomAD 12-4911429-C-T, CADD 13.00
- H18P (p.His18Pro), rs367921276, ClinGen CA6399335, ClinVar RCV000415980, ClinVar RCV000560254, REVEL 0.33, CADD 21.90, Uncertain significance, Inborn genetic diseases; not specified; Episodic ataxia type 1
- H18Q (p.His18Gln), gnomAD rs1338230248, REVEL 0.38, CADD 18.10
- H18R (p.His18Arg), ESP rs367921276, ExAC rs367921276, TOPMed rs367921276, gnomAD rs367921276, Uncertain significance
- P19T (p.Pro19Thr), Ensembl rs1947350765
- P19S (p.Pro19Ser), gnomAD 12-4911433-C-T, REVEL 0.43, MetaLR 0.76
- P19P (p.Pro19Pro), rs1947350782, gnomAD 12-4911435-C-G, CADD 9.56
- Q20H (p.Gln20His), rs201504073, ClinGen CA6399336, ClinVar RCV000517963, ClinVar RCV000639376, REVEL 0.38, CADD 18.90, Conflicting interpretations, not provided; Episodic ataxia type 1
- Q20K (p.Gln20Lys), rs2497351299, ClinGen CA383453701, ClinVar RCV003845524, REVEL 0.41, CADD 19.80, Uncertain significance, Episodic ataxia type 1
- Q20R (p.Gln20Arg), rs1243401360, ClinGen CA383453705, ClinVar RCV003066447, ClinVar RCV005655163, REVEL 0.38, CADD 17.30, Uncertain significance, Inborn genetic diseases; Episodic ataxia type 1
- Q20* (p.Gln20Ter), gnomAD 12-4911436-C-T, CADD 36.00
- Q20Q (p.Gln20Gln), rs201504073, gnomAD 12-4911438-G-A, CADD 10.50
- D21N (p.Asp21Asn), rs747465523, ClinGen CA6399337, NCI-TCGA Cosmic COSV6683, ClinVar RCV000992234, REVEL 0.43, CADD 23.30, Uncertain significance, not provided; Episodic ataxia type 1; Inborn genetic diseases
- D21Y (p.Asp21Tyr), rs747465523, ClinGen CA383453709, ClinVar RCV003515995, MutPred 0.32, Uncertain significance, Episodic ataxia type 1
- D21G (p.Asp21Gly), gnomAD 12-4911440-A-G, REVEL 0.29, MetaLR 0.81
- D21D (p.Asp21Asp), gnomAD 12-4911441-T-C, CADD 2.75
- G22D (p.Gly22Asp), gnomAD rs1237801961, REVEL 0.23, CADD 21.80
- S23N (p.Ser23Asn), gnomAD 12-4911446-G-A, REVEL 0.24, MetaLR 0.58
- S23S (p.Ser23Ser), gnomAD 12-4911447-C-T, CADD 13.60
- Y24H (p.Tyr24His), rs1224258529, ClinGen CA383453730, ClinVar RCV001221665, ClinVar RCV004032424, REVEL 0.24, CADD 21.40, Uncertain significance, Inborn genetic diseases; Episodic ataxia type 1
- Y24L (p.Tyr24Leu), gnomAD 12-4911447-C-CT, CADD 26.60
- Y24* (p.Tyr24Ter), gnomAD 12-4911450-C-A, CADD 36.00
- Y24Y (p.Tyr24Tyr), rs1947350899, gnomAD 12-4911450-C-T, CADD 11.30
- P25L (p.Pro25Leu), rs755064500, ClinGen CA6399338, ClinVar RCV003086959, ExAC rs755064500, REVEL 0.35, CADD 23.40, Uncertain significance, Episodic ataxia type 1
- P25T (p.Pro25Thr), gnomAD 12-4911451-C-A, REVEL 0.27, MetaLR 0.75
- P25P (p.Pro25Pro), gnomAD 12-4911453-C-T, CADD 7.80
- R26G (p.Arg26Gly), NCI-TCGA TCGA novel, ESP rs373645838, ExAC rs373645838, TOPMed rs373645838, REVEL 0.34, CADD 20.50, Uncertain significance
- R26Q (p.Arg26Gln), NCI-TCGA Cosmic COSV6683, Ensembl rs1736054347, Variant assessed as somatic; moderate impact.
- R26W (p.Arg26Trp), rs373645838, ClinGen CA6399339, ClinVar RCV000504366, ClinVar RCV002481619, REVEL 0.42, CADD 23.80, Uncertain significance, not specified; Episodic ataxia type 1
- R26P (p.Arg26Pro), gnomAD 12-4911455-G-C, REVEL 0.27, MetaLR 0.66
- R26L (p.Arg26Leu), gnomAD 12-4911455-G-T, REVEL 0.30, MetaLR 0.66
- Q27P (p.Gln27Pro), rs1043625587, ClinGen CA383453749, ClinVar RCV003253796, MutPred 0.34, Likely benign, Inborn genetic diseases
- Q27R (p.Gln27Arg), Ensembl rs1043625587
- Q27Q (p.Gln27Gln), rs1205987883, gnomAD 12-4911459-G-A, CADD 4.03
- A28V (p.Ala28Val), Ensembl rs904488099
- A28A (p.Ala28Ala), rs748174897, gnomAD 12-4911462-C-G, CADD 2.30
- D29E (p.Asp29Glu), rs1947351065, ClinGen CA383453765, ClinVar RCV003253797, Likely benign, Inborn genetic diseases
- D29N (p.Asp29Asn), NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- D29Y (p.Asp29Tyr), gnomAD 12-4911463-G-T, REVEL 0.32, MetaLR 0.68
- D29H (p.Asp29His), gnomAD 12-4911463-G-C, REVEL 0.26, MetaLR 0.67
- D29D (p.Asp29Asp), rs1947351065, gnomAD 12-4911465-C-T, CADD 9.27
- H30N (p.His30Asn), TOPMed rs1947351077, REVEL 0.23, CADD 17.70
- H30R (p.His30Arg), Ensembl rs1947351094
- H30Y (p.His30Tyr), gnomAD 12-4911466-C-T, REVEL 0.34, MetaLR 0.70
- H30H (p.His30His), rs1692046931, gnomAD 12-4911468-C-T, CADD 10.70
- D31G (p.Asp31Gly), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, REVEL 0.25, CADD 22.20, Variant assessed as somatic; moderate impact.
- D31V (p.Asp31Val), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- D31Y (p.Asp31Tyr), gnomAD 12-4911469-G-T, REVEL 0.37, MetaLR 0.74
- D31D (p.Asp31Asp), rs375647671, gnomAD 12-4911471-C-T, CADD 3.59
- D32E (p.Asp32Glu), Ensembl rs1353118362, REVEL 0.32, CADD 18.40
- D32H (p.Asp32His), rs1947351128, ClinGen CA383453783, ClinVar RCV001753242, ClinVar RCV005095079, MutPred 0.44, Uncertain significance, not provided; Episodic ataxia type 1
- D32N (p.Asp32Asn), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, REVEL 0.39, CADD 23.20, Variant assessed as somatic; moderate impact.
- D32Y (p.Asp32Tyr), rs1947351128, ClinGen CA383453784, ClinVar RCV001757641, ClinVar RCV004699463, REVEL 0.52, CADD 24.60, Uncertain significance, not specified; not provided; Episodic ataxia type 1
- H33D (p.His33Asp), gnomAD rs1947351157, REVEL 0.53, CADD 23.40, Uncertain significance
- H33Q (p.His33Gln), ExAC rs773288048, gnomAD rs773288048, REVEL 0.34, CADD 14.70
- H33R (p.His33Arg), Ensembl rs1947351177, REVEL 0.44, CADD 22.40
- H33Y (p.His33Tyr), rs1947351157, ClinGen CA383453792, ClinVar RCV001895752, gnomAD rs1947351157, MutPred 0.42, Uncertain significance, Episodic ataxia type 1
- H33H (p.His33His), gnomAD 12-4911477-C-T, CADD 9.30
- E34G (p.Glu34Gly), Ensembl rs1947351213
- E34V (p.Glu34Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C35R (p.Cys35Arg), rs2497351455, ClinGen CA383453806, ClinVar RCV003515136, Uncertain significance, Episodic ataxia type 1
- C35G (p.Cys35Gly), gnomAD 12-4911481-T-G, REVEL 0.75, MetaLR 0.82
- C35S (p.Cys35Ser), gnomAD 12-4911481-T-A, REVEL 0.67, MetaLR 0.80
- C35Y (p.Cys35Tyr), gnomAD 12-4911482-G-A, REVEL 0.75, MetaLR 0.87
- C36* (p.Cys36Ter), ExAC rs770814681, gnomAD rs770814681, CADD 34.00
- C36G (p.Cys36Gly), gnomAD rs1385867628, REVEL 0.70, CADD 24.80
- C36Y (p.Cys36Tyr), rs749152092, NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, ExAC rs749152092, REVEL 0.69, CADD 24.10, Variant assessed as somatic; moderate impact.
- C36C (p.Cys36Cys), gnomAD 12-4911486-C-T, CADD 10.80
- C36W (p.Cys36Trp), gnomAD 12-4911486-C-G, REVEL 0.68, MetaLR 0.85
- E37K (p.Glu37Lys), NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- E37Q (p.Glu37Gln), gnomAD 12-4911487-G-C, REVEL 0.43, MetaLR 0.37
- R38C (p.Arg38Cys), TOPMed rs1380141950, gnomAD rs1380141950, REVEL 0.66, CADD 29.00
- R38H (p.Arg38His), gnomAD rs1454599912, REVEL 0.71, CADD 29.90
- R38S (p.Arg38Ser), TOPMed rs1380141950, gnomAD rs1380141950
- R38G (p.Arg38Gly), gnomAD 12-4911490-C-G, REVEL 0.67, MetaLR 0.55
- R38R (p.Arg38Arg), rs146308797, gnomAD 12-4911492-C-A, CADD 11.90
- V39L (p.Val39Leu), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- V39M (p.Val39Met), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6683, Variant assessed as somatic; moderate impact.
- V40M (p.Val40Met), ExAC rs759476808, gnomAD rs759476808, REVEL 0.69, CADD 29.30
- V40D (p.Val40Asp), gnomAD 12-4911496-G-GA, CADD 32.00
- I41T (p.Ile41Thr), rs2497351503, ClinGen CA383453848, ClinVar RCV002802298, Uncertain significance, Inborn genetic diseases
- N42S (p.Asn42Ser), gnomAD 12-4911503-A-G, REVEL 0.82, MetaLR 0.83
- N42N (p.Asn42Asn), rs1947351400, gnomAD 12-4911504-C-T, CADD 12.90
- I43V (p.Ile43Val), gnomAD 12-4911505-A-G, REVEL 0.13, MetaLR 0.05
- S44S (p.Ser44Ser), rs139476802, gnomAD 12-4911510-C-G, CADD 8.45
- G45E (p.Gly45Glu), NCI-TCGA Cosmic COSV6683, NCI-TCGA Cosmic COSV9905, Variant assessed as somatic; moderate impact.
- G45V (p.Gly45Val), NCI-TCGA Cosmic COSV6683, NCI-TCGA Cosmic COSV9905, Variant assessed as somatic; moderate impact.
- G45R (p.Gly45Arg), gnomAD 12-4911511-G-C, REVEL 0.94, MetaLR 0.96
- G45G (p.Gly45Gly), rs937284012, gnomAD 12-4911513-G-A, CADD 13.20
- L46M (p.Leu46Met), rs149959487, ClinGen CA6399349, ClinVar RCV000792773, ClinVar RCV001289073, REVEL 0.35, CADD 22.00, Conflicting interpretations, Inborn genetic diseases; not specified; Episodic ataxia type 1
- L46P (p.Leu46Pro), rs2137672826, ClinGen CA383453880, ClinVar RCV001552468, Ensembl rs2137672826, MutPred 0.72, Uncertain significance, not provided
- L46L (p.Leu46Leu), gnomAD 12-4911516-G-C, CADD 11.90
- R47H (p.Arg47His), NCI-TCGA TCGA novel, REVEL 0.76, CADD 26.10, Variant assessed as somatic; moderate impact.
- R47P (p.Arg47Pro), rs2497351539, ClinGen CA383453884, ClinVar RCV003515044, REVEL 0.87, CADD 32.00, Uncertain significance, Episodic ataxia type 1
- R47S (p.Arg47Ser), rs891898566, ClinGen CA231855415, ClinVar RCV003076816, Ensembl rs891898566, MutPred 0.67, Uncertain significance, Episodic ataxia type 1
- F48L (p.Phe48Leu), NCI-TCGA Cosmic COSV6683, Uncertain significance, not specified
- F48F (p.Phe48Phe), rs886042316, gnomAD 12-4911522-C-T, CADD 13.80
- E49K (p.Glu49Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E49Q (p.Glu49Gln), rs1384353122, ClinGen CA383453896, ClinVar RCV002035758, ClinVar RCV004598172, REVEL 0.68, CADD 28.90, Uncertain significance, not provided; Episodic ataxia type 1
- T50M (p.Thr50Met), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- T50T (p.Thr50Thr), rs1237954514, gnomAD 12-4911528-G-A, CADD 10.80
- Q51L (p.Gln51Leu), rs2497351549, ClinGen CA383453914, ClinVar RCV003515751, Uncertain significance, Episodic ataxia type 1
- Q51H (p.Gln51His), gnomAD 12-4911531-G-C, REVEL 0.46, MetaLR 0.32
- L52I (p.Leu52Ile), TOPMed rs1308404461, gnomAD rs1308404461, REVEL 0.43, CADD 23.90
- L52F (p.Leu52Phe), gnomAD 12-4911532-C-T, REVEL 0.58, MetaLR 0.60
- L52L (p.Leu52Leu), rs763846827, gnomAD 12-4911534-C-G, CADD 12.20
- K53N (p.Lys53Asn), rs370288610, ClinGen CA6399351, ClinVar RCV002024483, ClinVar RCV005654949, REVEL 0.32, CADD 25.80, Uncertain significance, Inborn genetic diseases; Episodic ataxia type 1
- K53Q (p.Lys53Gln), rs1240945980, gnomAD rs1240945980, REVEL 0.39, CADD 23.40, Variant assessed as somatic; moderate impact.
- K53R (p.Lys53Arg), gnomAD rs1253981772, REVEL 0.30, CADD 21.70
- K53* (p.Lys53Ter), gnomAD 12-4911535-A-T, CADD 37.00
- K53K (p.Lys53Lys), rs370288610, gnomAD 12-4911537-G-A, CADD 13.00
- T54I (p.Thr54Ile), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- T54N (p.Thr54Asn), TOPMed rs1200027756, gnomAD rs1200027756, REVEL 0.86, CADD 25.60
- L55L (p.Leu55Leu), rs1024449916, gnomAD 12-4911541-C-T, CADD 13.10
- L55Q (p.Leu55Gln), gnomAD 12-4911542-T-A, REVEL 0.95, MetaLR 0.89
- A56E (p.Ala56Glu), TOPMed rs1412320343
- A56T (p.Ala56Thr), NCI-TCGA Cosmic COSV6683, REVEL 0.15, CADD 22.50, Variant assessed as somatic; moderate impact.
- A56V (p.Ala56Val), NCI-TCGA Cosmic COSV6683, REVEL 0.38, CADD 22.60, Variant assessed as somatic; moderate impact.
- A56A (p.Ala56Ala), rs145042702, gnomAD 12-4911546-G-T, CADD 10.90
Public KCNA1 analysis runs
- KCNA1 analysis run — KCNA1 (1,165 variants) — completed 2026-08-18