KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) variants and mutations
KCNQ1 (also known as Potassium voltage-gated channel subfamily KQT member 1) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily KQT member 1 protein. The protein forms the pore of a voltage-gated potassium channel that helps set electrical activity in heart muscle. Its partnerships with KCNE subunits also support normal function in the inner ear and other tissues, while KCNQ1 variants are linked to long-QT and short-QT syndromes. This analysis covers 1,718 KCNQ1 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, and atrial fibrillation, familial, 3. Example KCNQ1 variants include M1K, M1L, and M1T.
Variant analysis overview
- Gene: KCNQ1
- Protein: Potassium voltage-gated channel subfamily KQT member 1
- UniProt accession: P51787
- Organism: Homo sapiens
- Variants analyzed: 1718
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 1,325 unspecified-consequence records; 254 missense variants; 81 synonymous variants; 5 stop-gained variants; 38 frameshift variants; 13 in-frame deletions; 1 in-frame insertions; 1 substitution
- Prediction scores: 1,658 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome, Prolonged QT interval, Romano-Ward syndrome, short QT syndrome type 2, Familial short QT syndrome, cardiac arrhythmia, type 2 diabetes mellitus, multiple sclerosis, Abnormality of the cardiovascular system.
Protein structure and variant hotspots
- Protein features: 6 transmembrane segments; 1 binding sites; 4 post-translational modification sites.
- Structural context: 279 variants have structural context.
- PTM context: 10 variants overlap post-translational modification sites.
- Experimental data: 11 protein positions have experimental scores. Source: Normalized currents of 62 KCNQ1 missense SNVs in the homozygous state., Normalized currents of 62 KCNQ1 missense SNVs in the homozygous state.
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, ClinGen, PharmGKB, MaveDB, LitVar.
Notable KCNQ1 variants
Examples include M1K, M1L, M1T, M1V, A2G, A2T, A2V, A2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs199473485, ClinGen CA379115663, ClinVar RCV000578700, ESM-1b 0.91, AlphaMissense 0.66, Pathogenic, not provided
- M1L (p.Met1Leu), rs199473441, ClinGen CA350383, ClinVar RCV000206337, ESM-1b 0.77, AlphaMissense 0.21, Pathogenic, Long QT syndrome
- M1T (p.Met1Thr), rs199473485, ClinGen CA006772, ClinVar RCV000057656, ESM-1b 0.69, AlphaMissense 0.54, not provided, Congenital long QT syndrome
- M1V (p.Met1Val), rs199473441, ClinGen CA006661, ClinVar RCV000057654, ESM-1b 0.57, AlphaMissense 0.15, not provided, Congenital long QT syndrome
- A2G (p.Ala2Gly), rs199473442, ClinGen CA379115683, ClinVar RCV000590986, Ensembl rs199473442, REVEL 0.36, ESM-1b 0.00, Likely pathogenic, Long QT syndrome 1
- A2T (p.Ala2Thr), rs2133559329, ClinGen CA379115676, ClinVar RCV001358438, Ensembl rs2133559329, REVEL 0.37, ESM-1b 0.00, Uncertain significance, not provided
- A2V (p.Ala2Val), rs199473442, ClinGen CA007692, ClinVar RCV000057717, ClinVar RCV000182240, REVEL 0.67, ESM-1b 0.41, Uncertain significance, not provided
- A2S (p.Ala2Ser), gnomAD 11-2445102-G-T, REVEL 0.41, ESM-1b 0.00
- A2D (p.Ala2Asp), gnomAD 11-2445103-C-A, REVEL 0.39, ESM-1b 0.00
- A2A (p.Ala2Ala), gnomAD 11-2445104-C-A, CADD 12.10
- A3G (p.Ala3Gly), rs794728543, ClinGen CA008561, ClinVar RCV000182241, Ensembl rs794728543, REVEL 0.34, ESM-1b 0.00, Uncertain significance, not provided
- A3P (p.Ala3Pro), rs2496740426, ClinGen CA379115687, ClinVar RCV002802099, ESM-1b 0.00, AlphaMissense 0.15, Uncertain significance, Long QT syndrome
- A3T (p.Ala3Thr), gnomAD 11-2445105-G-A, REVEL 0.34, ESM-1b 0.00
- A3S (p.Ala3Ser), gnomAD 11-2445105-G-T, REVEL 0.35, ESM-1b 0.00
- A3V (p.Ala3Val), gnomAD 11-2445106-C-T, REVEL 0.35, ESM-1b 0.16
- A3E (p.Ala3Glu), gnomAD 11-2445106-C-A, REVEL 0.34, ESM-1b 0.00
- A3A (p.Ala3Ala), gnomAD 11-2445107-G-A, CADD 13.80
- A4V (p.Ala4Val), gnomAD rs1205817966, REVEL 0.28, ESM-1b 0.00
- A4T (p.Ala4Thr), rs1436016866, gnomAD 11-2444695-G-A, REVEL 0.27, ESM-1b 0.00
- A4E (p.Ala4Glu), rs1846001303, gnomAD 11-2444696-C-A, REVEL 0.26, ESM-1b 0.00
- A4A (p.Ala4Ala), rs1174214693, gnomAD 11-2444697-G-T, CADD 4.81
- A4P (p.Ala4Pro), gnomAD 11-2445108-G-C, REVEL 0.44, ESM-1b 0.00
- A4S (p.Ala4Ser), gnomAD 11-2445108-G-T, REVEL 0.38, ESM-1b 0.00
- A4D (p.Ala4Asp), gnomAD 11-2445109-C-A, REVEL 0.41, ESM-1b 0.00
- S5P (p.Ser5Pro), gnomAD 11-2445111-T-C, REVEL 0.39, ESM-1b 0.00
- S5A (p.Ser5Ala), gnomAD 11-2445111-T-G, REVEL 0.36, ESM-1b 0.00
- S5T (p.Ser5Thr), gnomAD 11-2445111-T-A, REVEL 0.32, ESM-1b 0.00
- S5C (p.Ser5Cys), gnomAD 11-2445112-C-G, REVEL 0.39, ESM-1b 0.00
- S5Y (p.Ser5Tyr), gnomAD 11-2445112-C-A, REVEL 0.39, ESM-1b 0.52
- S5F (p.Ser5Phe), gnomAD 11-2445112-C-T, REVEL 0.34, ESM-1b 0.00
- S5S (p.Ser5Ser), gnomAD 11-2445113-C-A, CADD 12.10
- S6F (p.Ser6Phe), TOPMed rs1266239855, gnomAD rs1266239855, REVEL 0.34, ESM-1b 0.00
- S6Y (p.Ser6Tyr), TOPMed rs1266239855, gnomAD rs1266239855, REVEL 0.38, ESM-1b 0.44
- S6R (p.Ser6Arg), gnomAD 11-2444704-A-C, REVEL 0.26, CADD 7.69
- S6P (p.Ser6Pro), gnomAD 11-2445111-TC-T, CADD 24.00
- S6T (p.Ser6Thr), gnomAD 11-2445114-T-A, REVEL 0.33, ESM-1b 0.00
- S6C (p.Ser6Cys), gnomAD 11-2445115-C-G, REVEL 0.39, ESM-1b 0.00
- S6S (p.Ser6Ser), rs1437238301, gnomAD 11-2445116-C-T, CADD 13.70
- P7Q (p.Pro7Gln), TOPMed rs1209850120, gnomAD rs1209850120, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Long QT syndrome; Cardiovascular phenotype
- P7S (p.Pro7Ser), rs199473443, ClinGen CA006651, ClinVar RCV000057653, ClinVar RCV000454712, REVEL 0.50, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome
- P7R (p.Pro7Arg), rs1554958030, gnomAD 11-2445114-TC-T, CADD 24.10
- P7A (p.Pro7Ala), gnomAD 11-2445117-C-G, REVEL 0.40, ESM-1b 0.00
- P7T (p.Pro7Thr), gnomAD 11-2445117-C-A, REVEL 0.46, ESM-1b 0.00
- P7L (p.Pro7Leu), gnomAD 11-2445118-C-T, REVEL 0.47, ESM-1b 0.00
- P7P (p.Pro7Pro), rs773966802, gnomAD 11-2445119-G-C, CADD 13.00
- P8S (p.Pro8Ser), gnomAD rs1846014477, REVEL 0.39, ESM-1b 0.00
- P8A (p.Pro8Ala), gnomAD 11-2445114-T-TC, CADD 24.40
- P8T (p.Pro8Thr), gnomAD 11-2445120-C-A, REVEL 0.37, ESM-1b 0.00
- P8L (p.Pro8Leu), gnomAD 11-2445121-C-T, REVEL 0.45, ESM-1b 0.00
- P8H (p.Pro8His), gnomAD 11-2445121-C-A, REVEL 0.46, ESM-1b 0.27
- P8P (p.Pro8Pro), gnomAD 11-2445122-C-G, CADD 11.10
- R9K (p.Arg9Lys), TOPMed rs1469698360, gnomAD rs1469698360, REVEL 0.24, ESM-1b 0.00, Uncertain significance
- R9T (p.Arg9Thr), rs1469698360, ClinGen CA379115747, ClinVar RCV001258175, TOPMed rs1469698360, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1
- R9* (p.Arg9Ter), gnomAD 11-2444692-C-T, CADD 5.46
- R9R (p.Arg9Arg), gnomAD 11-2444692-C-A, CADD 4.79
- R9L (p.Arg9Leu), gnomAD 11-2444693-G-T, REVEL 0.21, CADD 4.62
- R9Q (p.Arg9Gln), rs1301581842, gnomAD 11-2444693-G-A, REVEL 0.23, CADD 5.17
- R9P (p.Arg9Pro), rs1301581842, gnomAD 11-2444693-G-C, REVEL 0.17, CADD 4.76
- R9G (p.Arg9Gly), gnomAD 11-2445118-CG-C, CADD 23.30
- R9W (p.Arg9Trp), gnomAD 11-2445123-A-T, REVEL 0.38, ESM-1b 0.03
- R9M (p.Arg9Met), gnomAD 11-2445124-G-T, REVEL 0.38, ESM-1b 0.18
- R9S (p.Arg9Ser), gnomAD 11-2445125-G-T, REVEL 0.26, ESM-1b 0.00
- A10D (p.Ala10Asp), rs886048161, ClinGen CA10638245, ClinVar RCV000263850, ClinVar RCV000267409, REVEL 0.34, ESM-1b 0.05, Uncertain significance
- A10T (p.Ala10Thr), rs1477225534, ClinGen CA379115752, ClinVar RCV003648795, gnomAD rs1477225534, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- A10P (p.Ala10Pro), gnomAD 11-2445123-AG-A, CADD 22.50
- A10S (p.Ala10Ser), gnomAD 11-2445126-G-T, REVEL 0.32, ESM-1b 0.00
- A10G (p.Ala10Gly), gnomAD 11-2445127-C-G, REVEL 0.37, ESM-1b 0.00
- A10V (p.Ala10Val), gnomAD 11-2445127-C-T, REVEL 0.37, ESM-1b 0.00
- A10A (p.Ala10Ala), gnomAD 11-2445128-C-A, CADD 8.90
- E11G (p.Glu11Gly), rs2496740603, ClinGen CA379115767, ClinVar RCV003534092, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- E11K (p.Glu11Lys), rs959449103, ClinGen CA16619303, ClinVar RCV000479776, ClinVar RCV000620671, REVEL 0.41, ESM-1b 0.00, Uncertain significance, Long QT syndrome; Cardiovascular phenotype; not provided
- E11* (p.Glu11Ter), gnomAD 11-2445129-G-T, CADD 35.00
- E11Q (p.Glu11Gln), gnomAD 11-2445129-G-C, REVEL 0.36, ESM-1b 0.00
- E11V (p.Glu11Val), gnomAD 11-2445130-A-T, REVEL 0.42, ESM-1b 0.00
- E11D (p.Glu11Asp), gnomAD 11-2445131-G-T, REVEL 0.38, ESM-1b 0.00
- E11E (p.Glu11Glu), rs2522014, gnomAD 11-2445131-G-A, CADD 11.70
- R12E (p.Arg12Glu), gnomAD 11-2445128-CGA-C, CADD 24.40
- R12G (p.Arg12Gly), gnomAD 11-2445132-A-G, REVEL 0.38, ESM-1b 0.00
- R12W (p.Arg12Trp), gnomAD 11-2445132-A-T, REVEL 0.43, ESM-1b 0.23
- R12R (p.Arg12Arg), gnomAD 11-2445132-A-C, CADD 14.90
- R12T (p.Arg12Thr), gnomAD 11-2445133-G-C, REVEL 0.34, ESM-1b 0.04
- R12M (p.Arg12Met), gnomAD 11-2445133-G-T, REVEL 0.43, ESM-1b 0.92
- R12K (p.Arg12Lys), gnomAD 11-2445133-G-A, REVEL 0.35, ESM-1b 0.00
- R12S (p.Arg12Ser), gnomAD 11-2445134-G-T, REVEL 0.38, ESM-1b 0.00
- K13* (p.Lys13Ter), rs794728544, ClinGen CA006918, ClinVar RCV000182243, Ensembl rs794728544, CADD 35.00, Pathogenic
- K13R (p.Lys13Arg), rs1060500622, ClinGen CA16613505, ClinVar RCV000464010, TOPMed rs1060500622, REVEL 0.27, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- K13S (p.Lys13Ser), gnomAD 11-2445134-GA-G, CADD 24.10
- K13Q (p.Lys13Gln), gnomAD 11-2445135-A-C, REVEL 0.33, ESM-1b 0.00
- K13E (p.Lys13Glu), gnomAD 11-2445135-A-G, REVEL 0.31, ESM-1b 0.00
- K13M (p.Lys13Met), gnomAD 11-2445136-A-T, REVEL 0.42, ESM-1b 0.00
- K13T (p.Lys13Thr), gnomAD 11-2445136-A-C, REVEL 0.36, ESM-1b 0.00
- K13K (p.Lys13Lys), gnomAD 11-2445137-G-A, CADD 12.40
- K13N (p.Lys13Asn), gnomAD 11-2445137-G-T, REVEL 0.38, ESM-1b 0.00
- R14C (p.Arg14Cys), rs199473444, ClinGen CA007029, ClinVar RCV000057672, gnomAD rs199473444, REVEL 0.42, ESM-1b 0.35, not provided
- R14H (p.Arg14His), TOPMed rs1424013094, gnomAD rs1424013094, REVEL 0.41, ESM-1b 0.13, Uncertain significance
- R14L (p.Arg14Leu), rs1424013094, ClinGen CA16622147, ClinVar RCV000992240, ClinVar RCV001107181, REVEL 0.38, ESM-1b 0.00, Uncertain significance, Jervell and Lange-Nielsen syndrome 1; Atrial fibrillation, familial, 3; Short QT
- R14S (p.Arg14Ser), gnomAD rs199473444, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R14G (p.Arg14Gly), gnomAD 11-2445138-C-G, REVEL 0.35, ESM-1b 0.00
- R14P (p.Arg14Pro), gnomAD 11-2445139-G-C, REVEL 0.41, ESM-1b 0.00
- R14R (p.Arg14Arg), gnomAD 11-2445140-C-T, CADD 13.70
- W15C (p.Trp15Cys), rs2133559405, ClinGen CA379115869, ClinVar RCV002029920, ClinVar RCV004038739, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- W15R (p.Trp15Arg), gnomAD 11-2445141-T-A, REVEL 0.37, ESM-1b 0.00
- W15G (p.Trp15Gly), gnomAD 11-2445141-T-G, REVEL 0.42, ESM-1b 0.00
- W15S (p.Trp15Ser), gnomAD 11-2445142-G-C, REVEL 0.43, ESM-1b 0.00
- W15L (p.Trp15Leu), gnomAD 11-2445142-G-T, REVEL 0.44, ESM-1b 0.00
- W15* (p.Trp15Ter), gnomAD 11-2445142-G-A, CADD 35.00
- G16S (p.Gly16Ser), Ensembl rs1589884180, REVEL 0.24, ESM-1b 0.00
- G16R (p.Gly16Arg), rs1327458547, gnomAD 11-2444698-G-A, REVEL 0.28, CADD 4.78
- G16W (p.Gly16Trp), gnomAD 11-2444698-G-T, REVEL 0.24, CADD 4.22
- G16G (p.Gly16Gly), gnomAD 11-2444700-G-A, CADD 6.29
- G16V (p.Gly16Val), gnomAD 11-2445141-TG-T, CADD 24.10
- G16C (p.Gly16Cys), gnomAD 11-2445144-G-T, REVEL 0.36, ESM-1b 0.00
- G16D (p.Gly16Asp), gnomAD 11-2445145-G-A, REVEL 0.49, ESM-1b 0.00
- W17* (p.Trp17Ter), rs1589884185, ClinGen CA379115908, ClinVar RCV000821537, Ensembl rs1589884185, CADD 36.00, Pathogenic
- W17L (p.Trp17Leu), gnomAD 11-2445141-T-TG, CADD 24.40
- W17G (p.Trp17Gly), gnomAD 11-2445147-T-G, REVEL 0.41, ESM-1b 0.00
- W17R (p.Trp17Arg), gnomAD 11-2445147-T-C, REVEL 0.40, ESM-1b 0.00
- W17S (p.Trp17Ser), gnomAD 11-2445148-G-C, REVEL 0.45, ESM-1b 0.00
- W17C (p.Trp17Cys), gnomAD 11-2445149-G-C, REVEL 0.51, ESM-1b 0.00
- G18C (p.Gly18Cys), Ensembl rs1565023020, REVEL 0.47, ESM-1b 0.42
- G18D (p.Gly18Asp), gnomAD rs1178180143, REVEL 0.47, ESM-1b 0.12
- G18A (p.Gly18Ala), gnomAD 11-2445147-TG-T, CADD 25.90
- G18S (p.Gly18Ser), gnomAD 11-2445150-G-A, REVEL 0.38, ESM-1b 0.00
- G18R (p.Gly18Arg), gnomAD 11-2445150-G-C, REVEL 0.43, ESM-1b 0.00
- G18V (p.Gly18Val), gnomAD 11-2445151-G-T, REVEL 0.48, ESM-1b 0.00
- G18G (p.Gly18Gly), gnomAD 11-2445152-C-T, CADD 14.70
- R19A (p.Arg19Ala), gnomAD 11-2445151-GC-G, CADD 25.30
- R19G (p.Arg19Gly), gnomAD 11-2445153-C-G, REVEL 0.62, ESM-1b 0.00
- R19S (p.Arg19Ser), gnomAD 11-2445153-C-A, REVEL 0.59, ESM-1b 0.00
- R19C (p.Arg19Cys), gnomAD 11-2445153-C-T, REVEL 0.65, ESM-1b 0.00
- R19L (p.Arg19Leu), gnomAD 11-2445154-G-T, REVEL 0.57, ESM-1b 0.00
- R19H (p.Arg19His), gnomAD 11-2445154-G-A, REVEL 0.56, ESM-1b 0.47
- R19P (p.Arg19Pro), gnomAD 11-2445154-G-C, REVEL 0.58, ESM-1b 0.00
- R19R (p.Arg19Arg), rs1846014899, gnomAD 11-2445155-C-A, CADD 13.30
- L20Q (p.Leu20Gln), TOPMed rs1846014924, REVEL 0.49, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- L20I (p.Leu20Ile), gnomAD 11-2444701-C-A, REVEL 0.24, CADD 4.65
- L20P (p.Leu20Pro), rs1589883851, gnomAD 11-2444702-T-C, REVEL 0.28, CADD 8.50
- L20L (p.Leu20Leu), gnomAD 11-2444703-A-C, CADD 4.30
- L20M (p.Leu20Met), gnomAD 11-2445156-C-A, REVEL 0.38, ESM-1b 0.13
- L20R (p.Leu20Arg), gnomAD 11-2445156-CT-C, CADD 23.60
- L20V (p.Leu20Val), gnomAD 11-2445156-C-G, REVEL 0.39, ESM-1b 0.00
- P21A (p.Pro21Ala), ExAC rs761696769, gnomAD rs761696769, REVEL 0.32, ESM-1b 0.00
- P21L (p.Pro21Leu), rs1589884196, ClinGen CA379115987, ClinVar RCV001980470, ClinVar RCV005585058, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- P21S (p.Pro21Ser), ExAC rs761696769, gnomAD rs761696769, REVEL 0.28, ESM-1b 0.00
- P21Q (p.Pro21Gln), gnomAD 11-2445158-GC-G, CADD 23.60
- P21T (p.Pro21Thr), gnomAD 11-2445159-C-A, REVEL 0.32, ESM-1b 0.00
- P21R (p.Pro21Arg), gnomAD 11-2445160-C-G, REVEL 0.32, ESM-1b 0.00
- P21P (p.Pro21Pro), gnomAD 11-2445161-A-C, CADD 13.40
- G22C (p.Gly22Cys), rs794728545, ClinGen CA379115989, ClinVar RCV003121692, TOPMed rs794728545, REVEL 0.41, ESM-1b 0.28, Uncertain significance, Long QT syndrome
- G22R (p.Gly22Arg), rs794728545, ClinGen CA007829, ClinVar RCV000182244, ClinVar RCV000794582, REVEL 0.41, ESM-1b 0.00, Uncertain significance, Long QT syndrome; Cardiovascular phenotype; not provided
- G22V (p.Gly22Val), Ensembl rs1846015097, REVEL 0.37, ESM-1b 0.00
- G22A (p.Gly22Ala), gnomAD 11-2445161-AG-A, CADD 24.40
- G22S (p.Gly22Ser), gnomAD 11-2445162-G-A, REVEL 0.29, ESM-1b 0.00
- G22D (p.Gly22Asp), gnomAD 11-2445163-G-A, REVEL 0.39, ESM-1b 0.41
- G22G (p.Gly22Gly), rs886048162, gnomAD 11-2445164-C-A, CADD 12.30
- A23T (p.Ala23Thr), gnomAD rs1456296682, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Long QT syndrome; Cardiovascular phenotype; Cardiac arrhythmia
- A23V (p.Ala23Val), rs2496740897, ClinGen CA379116026, ClinVar RCV003029898, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Cardiac arrhythmia
- p.Ala23 Gly43del, gnomAD 11-2445161-AGGCGC, CADD 18.90
- A23S (p.Ala23Ser), gnomAD 11-2445165-G-T, REVEL 0.32, ESM-1b 0.00
- A23P (p.Ala23Pro), gnomAD 11-2445165-G-C, REVEL 0.38, ESM-1b 0.00
- A23D (p.Ala23Asp), gnomAD 11-2445166-C-A, REVEL 0.53, ESM-1b 0.00
- A23G (p.Ala23Gly), gnomAD 11-2445166-C-G, REVEL 0.37, ESM-1b 0.00
- A23A (p.Ala23Ala), gnomAD 11-2445167-C-G, CADD 13.40
- R24W (p.Arg24Trp), rs990778345, ClinGen CA216292541, ClinVar RCV001216896, ClinVar RCV002365980, REVEL 0.52, ESM-1b 0.00, Uncertain significance, Long QT syndrome; Cardiovascular phenotype
- R24G (p.Arg24Gly), gnomAD 11-2445165-GC-G, CADD 24.40
- R24R (p.Arg24Arg), gnomAD 11-2445168-C-A, CADD 14.60
- R24Q (p.Arg24Gln), gnomAD 11-2445169-G-A, REVEL 0.39, ESM-1b 0.00
- R24L (p.Arg24Leu), gnomAD 11-2445169-G-T, REVEL 0.41, ESM-1b 0.00
- R24P (p.Arg24Pro), gnomAD 11-2445169-G-C, REVEL 0.54, ESM-1b 0.00
- R25P (p.Arg25Pro), rs1589884210, ClinGen CA379116049, ClinVar RCV000845349, ClinVar RCV001858456, REVEL 0.58, ESM-1b 0.00, Uncertain significance, Conduction disorder of the heart; Long QT syndrome
- R25del (p.Arg25del), rs1846015232, gnomAD 11-2445167-CCGG-C, CADD 18.70
- R25G (p.Arg25Gly), gnomAD 11-2445168-CG-C, CADD 26.00
- R25R (p.Arg25Arg), gnomAD 11-2445171-C-A, CADD 14.70
- R25W (p.Arg25Trp), gnomAD 11-2445171-C-T, REVEL 0.49, ESM-1b 0.27
- R25Q (p.Arg25Gln), gnomAD 11-2445172-G-A, REVEL 0.39, ESM-1b 0.00
- R25L (p.Arg25Leu), gnomAD 11-2445172-G-T, REVEL 0.46, ESM-1b 0.00
- G26D (p.Gly26Asp), gnomAD rs1273972050, REVEL 0.47, ESM-1b 0.00
- G26A (p.Gly26Ala), gnomAD 11-2445164-CGCCCG, CADD 26.90
- G26Q (p.Gly26Gln), gnomAD 11-2445171-CGG-C, CADD 26.40
- G26S (p.Gly26Ser), gnomAD 11-2445174-G-A, REVEL 0.41, ESM-1b 0.00
Public KCNQ1 analysis runs
- KCNQ1 analysis run — KCNQ1 (1,718 variants) — completed 2026-05-15