KCNE2 (Q9Y6J6) variants and mutations
KCNE2 (also known as Q9Y6J6) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily E member 2 protein. An accessory subunit that modifies the activity of several potassium channels involved in cardiac electrical signaling. Certain variants may increase susceptibility to acquired long-QT syndrome, although their role in inherited long-QT syndrome remains disputed. This analysis covers 302 KCNE2 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes familial long QT syndrome, familial atrial fibrillation, and myocardial infarction. Example KCNE2 variants include M1T, T3I, and S5F.
Variant analysis overview
- Gene: KCNE2
- Protein: Q9Y6J6
- UniProt accession: Q9Y6J6
- Organism: Homo sapiens
- Variants analyzed: 302
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 198 unspecified-consequence records; 47 missense variants; 13 frameshift variants; 56 synonymous variants; 2 in-frame insertions; 4 stop-gained variants; 4 substitution
- Prediction scores: 306 variants have prediction scores (101% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial long QT syndrome, familial atrial fibrillation, myocardial infarction, cardiovascular disorder, heart disorder, coronary artery disorder, migraine disorder, intermediate coronary syndrome, angina pectoris, coronary atherosclerosis, myocardial ischemia, aneurysm.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 post-translational modification sites.
- Structural context: 49 variants have structural context.
- PTM context: 4 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Diseases linked to KCNE2
Notable KCNE2 variants
Examples include M1T, T3I, S5F, S5P, N6S, T8A, T8I, T8K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs867658122, ClinGen CA320365710, ClinVar RCV000816121, ClinVar RCV002487797, ESM-1b 1.00, AlphaMissense 0.44, Uncertain significance, Atrial fibrillation, familial, 4; Long QT syndrome 6
- T3I (p.Thr3Ile), gnomAD 21-34370486-C-T, REVEL 0.10, ESM-1b 0.00
- S5F (p.Ser5Phe), rs2123423461, ClinGen CA410196094, ClinVar RCV001765067, Ensembl rs2123423461, REVEL 0.27, ESM-1b 0.00, Uncertain significance, not provided
- S5P (p.Ser5Pro), rs2123423458, ClinGen CA410196092, ClinVar RCV001582409, ClinVar RCV001866209, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Atrial fibrillation, familial, 4; Long QT syndrome 6; not specified
- N6S (p.Asn6Ser), rs776661633, ClinGen CA10013385, ClinVar RCV001137161, ClinVar RCV001139399, REVEL 0.56, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Atrial fibrillation, familial, 4; Long QT syndrome 6
- T8A (p.Thr8Ala), rs2234916, ClinGen CA199953, ClinVar RCV000058368, ClinVar RCV000170566, REVEL 0.57, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome, drug-associated; not specified
- T8I (p.Thr8Ile), rs35759083, ClinGen CA10013386, ClinVar RCV002450244, UniProt VAR 037794, REVEL 0.54, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; KCNE2-related disorder
- T8K (p.Thr8Lys), rs35759083, ClinGen CA410196114, ClinVar RCV004524861, ESM-1b 0.00, AlphaMissense 0.67, Uncertain significance, Cardiovascular phenotype
- T8T (p.Thr8Thr), rs1568813802, gnomAD 21-34370502-A-G, CADD 0.12
- Q9* (p.Gln9Ter), rs16991652, ClinGen CA410196117, ClinVar RCV000621147, 1000Genomes rs16991652, CADD 33.00, Benign
- Q9E (p.Gln9Glu), rs16991652, ClinGen CA117922, ClinVar RCV000006424, ClinVar RCV000058370, REVEL 0.23, ESM-1b 0.00, Benign/Likely benign, Cardiovascular phenotype; not specified; not provided
- Q9L (p.Gln9Leu), rs758038035, ClinGen CA410196119, ClinVar RCV003617146, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- Q9R (p.Gln9Arg), ExAC rs758038035, gnomAD rs758038035, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance
- Q9D (p.Gln9Asp), gnomAD 21-34370498-TCA-T, CADD 25.80
- T10M (p.Thr10Met), rs199473648, ClinGen CA199792, ClinVar RCV000058373, ClinVar RCV000171565, REVEL 0.54, ESM-1b 0.00, Conflicting interpretations, not specified; not provided; Long QT syndrome 6
- T10T (p.Thr10Thr), rs751014874, gnomAD 21-34370508-G-A, CADD 0.03
- L11V (p.Leu11Val), rs1380038133, ClinGen CA410196128, ClinVar RCV003055714, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Long QT syndrome 6
- L11W (p.Leu11Trp), gnomAD 21-34370507-CG-C, CADD 0.00
- E12D (p.Glu12Asp), rs754523450, NCI-TCGA Cosmic COSV5171, ExAC rs754523450, gnomAD rs754523450, REVEL 0.57, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- E12R (p.Glu12Arg), rs1979530148, gnomAD 21-34370511-GGA-G, CADD 24.90
- E12K (p.Glu12Lys), gnomAD 21-34370512-G-A, REVEL 0.78, ESM-1b 0.00
- E12A (p.Glu12Ala), gnomAD 21-34370513-A-C, REVEL 0.76, ESM-1b 0.00
- D13Y (p.Asp13Tyr), TOPMed rs1979530504, REVEL 0.23, ESM-1b 0.12, Uncertain significance, Cardiovascular phenotype
- D13D (p.Asp13Asp), rs556106127, gnomAD 21-34370517-C-T, CADD 0.05
- V14D (p.Val14Asp), rs2516740698, ClinGen CA410196150, ClinVar RCV002327860, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- V14I (p.Val14Ile), rs142153692, ClinGen CA211456, ClinVar RCV000058375, ClinVar RCV000148519, REVEL 0.23, ESM-1b 0.00, Likely benign, not specified; not provided; Long QT syndrome 6
- V14L (p.Val14Leu), 1000Genomes rs142153692, ESP rs142153692, ExAC rs142153692, TOPMed rs142153692, REVEL 0.23, ESM-1b 0.00, Likely benign, in LQT6
- V14V (p.Val14Val), rs2123423554, gnomAD 21-34370520-C-A, CADD 3.14
- F15L (p.Phe15Leu), gnomAD rs1323358344, REVEL 0.50, ESM-1b 0.00
- F15S (p.Phe15Ser), ESP rs374431902, ExAC rs374431902, TOPMed rs374431902, gnomAD rs374431902, REVEL 0.72, ESM-1b 0.00
- R16* (p.Arg16Ter), rs779306606, ClinGen CA10013392, ClinVar RCV001313654, ClinVar RCV001751600, CADD 31.00, Uncertain significance
- R16Q (p.Arg16Gln), rs368865412, ClinGen CA301982, NCI-TCGA Cosmic COSV5170, ClinVar RCV000170954, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided; Long QT syndrome 6
- R16G (p.Arg16Gly), gnomAD 21-34370524-C-G, REVEL 0.22, ESM-1b 0.00
- R17R (p.Arg17Arg), gnomAD 21-34370529-G-A, CADD 4.27
- F19L (p.Phe19Leu), rs762880940, gnomAD 21-34370530-AT-A, CADD 23.40
- I20N (p.Ile20Asn), rs199473363, ClinGen CA329756, ClinVar RCV000058376, UniProt VAR 074922, ESM-1b 0.00, AlphaMissense 0.17, not provided, Congenital long QT syndrome
- I20L (p.Ile20Leu), gnomAD 21-34370536-A-C, REVEL 0.27, ESM-1b 0.00
- I20V (p.Ile20Val), gnomAD 21-34370536-A-G, REVEL 0.27, ESM-1b 0.00
- I20I (p.Ile20Ile), rs1213881768, gnomAD 21-34370538-T-C, CADD 1.13
- p.Thr21 Tyr22insThrSer, gnomAD 21-34370539-A-ACA, CADD 10.20
- T21T (p.Thr21Thr), rs138954752, gnomAD 21-34370541-T-G, CADD 1.85
- Y22F (p.Tyr22Phe), rs1979532436, ClinGen CA410196202, ClinVar RCV004524862, Ensembl rs1979532436, REVEL 0.66, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- Y22Y (p.Tyr22Tyr), rs775857492, gnomAD 21-34370544-T-C, CADD 0.02
- Y22* (p.Tyr22Ter), gnomAD 21-34370544-T-A, CADD 21.40
- M23L (p.Met23Leu), rs747045005, ClinGen CA10013396, ClinVar RCV000678938, ClinVar RCV002360705, REVEL 0.81, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided; Atrial fibrillation, familial, 4
- M23T (p.Met23Thr), gnomAD rs1280448748, REVEL 0.83, ESM-1b 0.00
- M23V (p.Met23Val), gnomAD 21-34370545-A-G, REVEL 0.70, ESM-1b 0.00
- N25Y (p.Asn25Tyr), TOPMed rs1384910348, gnomAD rs1384910348, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- N25N (p.Asn25Asn), rs372013275, gnomAD 21-34370553-T-C, CADD 0.56
- W26* (p.Trp26Ter), gnomAD 21-34370556-G-A, CADD 37.00
- R27C (p.Arg27Cys), rs74315449, ClinGen CA117924, ClinVar RCV000006427, ClinVar RCV000058377, REVEL 0.87, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
- R27H (p.Arg27His), rs148968498, ClinGen CA211459, ClinVar RCV000058378, ClinVar RCV000148520, REVEL 0.76, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
- R27S (p.Arg27Ser), rs74315449, ClinGen CA410196238, ClinVar RCV001526947, ClinVar RCV001873718, REVEL 0.68, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6; not specified
- Q28* (p.Gln28Ter), ESP rs369159493, ExAC rs369159493, TOPMed rs369159493, gnomAD rs369159493
- Q28Q (p.Gln28Gln), gnomAD 21-34370562-G-A, CADD 3.21
- N29I (p.Asn29Ile), rs2516740780, ClinGen CA410196254, ClinVar RCV002294908, ESM-1b 0.00, AlphaMissense 0.67, Uncertain significance, Long QT syndrome 6
- N29K (p.Asn29Lys), TOPMed rs1427987437, gnomAD rs1427987437, REVEL 0.53, ESM-1b 0.00, Likely benign
- N29N (p.Asn29Asn), rs1427987437, gnomAD 21-34370565-C-T, CADD 5.50
- T30I (p.Thr30Ile), rs772975913, ClinGen CA320365711, ClinVar RCV002030302, ExAC rs772975913, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 6
- T30K (p.Thr30Lys), ExAC rs772975913, TOPMed rs772975913, gnomAD rs772975913, REVEL 0.34, ESM-1b 0.00, Uncertain significance
- T30P (p.Thr30Pro), gnomAD rs1307670975, REVEL 0.42, ESM-1b 0.00
- T31I (p.Thr31Ile), ExAC rs757208768, gnomAD rs757208768, REVEL 0.59, ESM-1b 0.00
- T31R (p.Thr31Arg), ExAC rs757208768, gnomAD rs757208768, REVEL 0.62, ESM-1b 0.00
- E33K (p.Glu33Lys), rs1131691291, ClinGen CA410196271, ClinVar RCV000493451, Ensembl rs1131691291, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, not provided
- E33E (p.Glu33Glu), rs1979534972, gnomAD 21-34370577-G-A, CADD 2.27
- Q34E (p.Gln34Glu), gnomAD 21-34370578-C-G, REVEL 0.16, ESM-1b 0.00
- E35K (p.Glu35Lys), gnomAD 21-34370581-G-A, REVEL 0.19, ESM-1b 0.00
- A36C (p.Ala36Cys), NCI-TCGA Cosmic COSV5171, Variant assessed as somatic; moderate impact.
- A36T (p.Ala36Thr), 1000Genomes rs2123423704, REVEL 0.29, ESM-1b 0.00
- A36V (p.Ala36Val), gnomAD 21-34370585-C-T, REVEL 0.23, ESM-1b 0.00
- A36A (p.Ala36Ala), gnomAD 21-34370586-C-T, CADD 4.13
- L37F (p.Leu37Phe), ExAC rs765952344, gnomAD rs765952344, REVEL 0.48, ESM-1b 0.00
- L37L (p.Leu37Leu), rs751248501, gnomAD 21-34370589-C-T, CADD 6.09
- Q38E (p.Gln38Glu), 1000Genomes rs554011844, ExAC rs554011844, TOPMed rs554011844, gnomAD rs554011844, REVEL 0.40, ESM-1b 0.00
- Q38H (p.Gln38His), TOPMed rs1446756364, gnomAD rs1446756364, REVEL 0.42, ESM-1b 0.16
- Q38K (p.Gln38Lys), 1000Genomes rs554011844, ExAC rs554011844, TOPMed rs554011844, gnomAD rs554011844, REVEL 0.39, ESM-1b 0.00, Uncertain significance, not provided; Cardiovascular phenotype
- A39G (p.Ala39Gly), rs767031659, ClinGen CA10013404, ClinVar RCV003007188, ClinVar RCV006342679, REVEL 0.29, ESM-1b 0.09, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 6
- A39T (p.Ala39Thr), gnomAD rs1316451468, REVEL 0.27, ESM-1b 0.00, Uncertain significance, not provided
- K40R (p.Lys40Arg), ExAC rs752190819, gnomAD rs752190819, REVEL 0.18, ESM-1b 0.00, Uncertain significance
- K40T (p.Lys40Thr), rs752190819, ClinGen CA410196349, ClinVar RCV003077157, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Long QT syndrome 6
- K40E (p.Lys40Glu), gnomAD 21-34370596-A-G, REVEL 0.10, ESM-1b 0.00
- K40Q (p.Lys40Gln), rs554011844, []
- V41A (p.Val41Ala), rs1273269997, ClinGen CA410196357, ClinVar RCV000700143, ClinVar RCV003238808, REVEL 0.37, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6; Cardiovascular phenotype; not provided
- V41G (p.Val41Gly), TOPMed rs1273269997, gnomAD rs1273269997, REVEL 0.55, ESM-1b 0.46, Uncertain significance
- V41L (p.Val41Leu), rs1979536230, gnomAD 21-34370593-GC-G, CADD 26.00
- D42E (p.Asp42Glu), TOPMed rs1439240875, gnomAD rs1439240875, REVEL 0.38, ESM-1b 0.00
- D42Y (p.Asp42Tyr), gnomAD 21-34370602-G-T, REVEL 0.50, ESM-1b 0.13
- E44G (p.Glu44Gly), Ensembl rs1979537044, REVEL 0.77, ESM-1b 0.00
- E44K (p.Glu44Lys), TOPMed rs953273203, gnomAD rs953273203, REVEL 0.79, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- E44D (p.Glu44Asp), gnomAD 21-34370610-G-C, REVEL 0.45, ESM-1b 0.00
- N45D (p.Asn45Asp), TOPMed rs1429248689, gnomAD rs1429248689, REVEL 0.56, ESM-1b 0.00
- N45T (p.Asn45Thr), gnomAD 21-34370609-AG-A, CADD 28.30
- N45N (p.Asn45Asn), gnomAD 21-34370613-C-T, CADD 8.31
- Y47* (p.Tyr47Ter), ExAC rs779623946, TOPMed rs779623946, gnomAD rs779623946, CADD 36.00, Likely benign
- Y47C (p.Tyr47Cys), rs757779830, ClinGen CA410196405, ClinVar RCV002389454, REVEL 0.48, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- Y47H (p.Tyr47His), gnomAD rs1979537731, REVEL 0.15, ESM-1b 0.00
- Y47S (p.Tyr47Ser), ExAC rs757779830, gnomAD rs757779830, REVEL 0.20, ESM-1b 0.00, Uncertain significance
- Y47I (p.Tyr47Ile), rs763797654, gnomAD 21-34370616-C-CA, CADD 25.70
- Y47Y (p.Tyr47Tyr), rs779623946, gnomAD 21-34370619-C-T, CADD 8.66
- Y48* (p.Tyr48Ter), ExAC rs780373385, gnomAD rs780373385, CADD 25.40
- Y48S (p.Tyr48Ser), ExAC rs758863768, gnomAD rs758863768, REVEL 0.72, ESM-1b 0.00
- Y48M (p.Tyr48Met), rs2123423791, gnomAD 21-34370618-AC-A, CADD 26.70
- Y48C (p.Tyr48Cys), gnomAD 21-34370621-A-G, REVEL 0.66, ESM-1b 0.00
- V49C (p.Val49Cys), rs751276927, gnomAD 21-34370621-A-AT, CADD 29.30
- V49V (p.Val49Val), rs1485672832, gnomAD 21-34370625-C-T, CADD 10.30
- I50M (p.Ile50Met), ExAC rs747232176, gnomAD rs747232176, REVEL 0.51, ESM-1b 0.00
- I50I (p.Ile50Ile), rs747232176, gnomAD 21-34370628-C-T, CADD 9.93
- L51V (p.Leu51Val), gnomAD rs1447716899, REVEL 0.58, ESM-1b 0.00
- L51L (p.Leu51Leu), rs143767851, gnomAD 21-34370631-G-T, CADD 8.38
- Y52H (p.Tyr52His), Ensembl rs982620931, REVEL 0.83, ESM-1b 0.00
- Y52Y (p.Tyr52Tyr), rs776764531, gnomAD 21-34370634-C-T, CADD 8.63
- L53F (p.Leu53Phe), rs1411888390, NCI-TCGA Cosmic COSV5171, gnomAD rs1411888390, REVEL 0.64, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- M54T (p.Met54Thr), rs74315447, ClinGen CA253741, ClinVar RCV000006425, ClinVar RCV000058360, REVEL 0.82, ESM-1b 0.00, Conflicting classifications of pathogenicity; ri, Cardiovascular phenotype; KCNE2-related disorder; not specified
- M54V (p.Met54Val), rs371724328, ClinGen CA10013416, ClinVar RCV001208257, ESP rs371724328, REVEL 0.59, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- p.Val55dup, rs756730160, gnomAD 21-34370638-A-ATG, CADD 19.10
- M56R (p.Met56Arg), TOPMed rs1979540799, ESM-1b 1.00, AlphaMissense 0.95
- M56V (p.Met56Val), rs199473649, ClinGen CA218802, ClinVar RCV000058361, TOPMed rs199473649, ESM-1b 0.00, AlphaMissense 0.15, not provided
- I57M (p.Ile57Met), rs146053586, ClinGen CA10013418, ClinVar RCV001050335, ClinVar RCV005652497, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 6
- I57T (p.Ile57Thr), rs74315448, ClinGen CA218805, ClinVar RCV000006426, ClinVar RCV000058362, REVEL 0.86, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Cardiac arrhythmia; not specified
- I57V (p.Ile57Val), gnomAD 21-34370647-A-G, REVEL 0.52, ESM-1b 0.00
- G58* (p.Gly58Ter), Ensembl rs2123423882
- G58T (p.Gly58Thr), NCI-TCGA TCGA novel, MetaLR 0.82, MetaSVM 0.76, Variant assessed as somatic; moderate impact.
- G58E (p.Gly58Glu), gnomAD 21-34370651-G-A, REVEL 0.86, ESM-1b 1.00
- M59I (p.Met59Ile), rs2516740964, ClinGen CA410196556, ClinVar RCV003296637, ESM-1b 0.00, AlphaMissense 0.45, Uncertain significance, Cardiovascular phenotype
- M59L (p.Met59Leu), ExAC rs770739581, TOPMed rs770739581, gnomAD rs770739581, REVEL 0.56, ESM-1b 0.00, Uncertain significance
- M59V (p.Met59Val), ExAC rs770739581, TOPMed rs770739581, gnomAD rs770739581, REVEL 0.65, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- M59K (p.Met59Lys), gnomAD 21-34370654-T-A, REVEL 0.88, ESM-1b 1.00
- F60I (p.Phe60Ile), rs16991654, ClinGen CA10013421, ClinVar RCV001142017, ClinVar RCV001142018, REVEL 0.87, ESM-1b 0.00, Uncertain significance, Atrial fibrillation, familial, 4; Long QT syndrome 6
- F60L (p.Phe60Leu), rs16991654, ClinGen CA117926, ClinVar RCV000006428, ClinVar RCV000058363, REVEL 0.94, ESM-1b 0.00, Pathogenic, Long QT syndrome 3/6, digenic
- S61P (p.Ser61Pro), rs1979541976, ClinGen CA410196577, ClinVar RCV003165306, TOPMed rs1979541976, ESM-1b 1.00, AlphaMissense 0.94, Uncertain significance, Cardiovascular phenotype
- S61S (p.Ser61Ser), rs1243932152, gnomAD 21-34370661-T-G, CADD 1.52
- F62L (p.Phe62Leu), gnomAD 21-34370664-C-G, REVEL 0.73, ESM-1b 0.00
- I63I (p.Ile63Ile), rs1568814028, gnomAD 21-34370667-C-T, CADD 6.63
- I64N (p.Ile64Asn), TOPMed rs1226991524, gnomAD rs1226991524, REVEL 0.48, ESM-1b 1.00
- I64V (p.Ile64Val), rs1555837082, ClinGen CA410196609, ClinVar RCV000555620, ClinVar RCV002413588, ESM-1b 0.00, AlphaMissense 0.06, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome 6
- I64I (p.Ile64Ile), rs767142542, gnomAD 21-34370670-C-T, CADD 0.66
- V65E (p.Val65Glu), gnomAD rs1217144700, REVEL 0.82, ESM-1b 1.00, Uncertain significance, in LQT6
- V65L (p.Val65Leu), rs199473364, ClinGen CA329750, ClinVar RCV000058365, ClinVar RCV000228047, REVEL 0.63, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6; Atrial fibrillation, familial, 4
- V65M (p.Val65Met), rs199473364, ClinGen CA329748, ClinVar RCV000058364, ClinVar RCV000464363, REVEL 0.69, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- V65V (p.Val65Val), rs765797117, gnomAD 21-34370673-G-T, CADD 0.89
- A66G (p.Ala66Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A66C (p.Ala66Cys), NCI-TCGA Cosmic COSV9928, REVEL 0.63, MetaLR 0.72, Uncertain significance, in LQT6
- A66T (p.Ala66Thr), Ensembl rs745605145, REVEL 0.64, ESM-1b 0.00
- A66V (p.Ala66Val), rs16991656, ClinGen CA218807, ClinVar RCV000058366, ClinVar RCV001854215, REVEL 0.62, ESM-1b 0.00, Uncertain significance, not provided; Long QT syndrome 6
- I67M (p.Ile67Met), rs2516741027, ClinGen CA410196646, ClinVar RCV003176526, ClinVar RCV006473771, REVEL 0.63, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 6
- I67V (p.Ile67Val), gnomAD 21-34370677-A-G, REVEL 0.57, ESM-1b 0.00
- I67N (p.Ile67Asn), gnomAD 21-34370678-T-A, REVEL 0.83, ESM-1b 0.83
- I67I (p.Ile67Ile), gnomAD 21-34370679-C-A, CADD 9.46
- L68P (p.Leu68Pro), gnomAD rs1979543909, REVEL 0.80, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- L68L (p.Leu68Leu), rs200403369, gnomAD 21-34370682-G-A, CADD 9.75
- V69A (p.Val69Ala), gnomAD rs1979544186, REVEL 0.69, ESM-1b 0.00
- V69M (p.Val69Met), rs542835031, ClinGen CA301992, ClinVar RCV000170961, ClinVar RCV004020036, REVEL 0.61, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not provided
- V69V (p.Val69Val), rs780534713, gnomAD 21-34370685-G-A, CADD 8.47
- S70N (p.Ser70Asn), rs751931568, ClinGen CA236156, ClinVar RCV000171348, ClinVar RCV001049236, REVEL 0.61, ESM-1b 0.00, Conflicting interpretations, not provided; Long QT syndrome 6
- S70S (p.Ser70Ser), gnomAD 21-34370688-C-T, CADD 9.96
- T71A (p.Thr71Ala), TOPMed rs1979544646, ESM-1b 0.00, AlphaMissense 0.39
- T71T (p.Thr71Thr), rs1364081738, gnomAD 21-34370691-T-C, CADD 0.36
- S74P (p.Ser74Pro), TOPMed rs1163230241, ESM-1b 0.00, AlphaMissense 0.90
- S74Y (p.Ser74Tyr), rs1979545359, ClinGen CA410196716, ClinVar RCV001302151, Ensembl rs1979545359, ESM-1b 0.00, AlphaMissense 0.75, Uncertain significance, Long QT syndrome 6
- S74F (p.Ser74Phe), gnomAD 21-34370699-C-T, REVEL 0.81, ESM-1b 0.00
- S74S (p.Ser74Ser), rs755211128, gnomAD 21-34370700-C-T, CADD 8.86
- K75E (p.Lys75Glu), TOPMed rs1375227134, ESM-1b 0.00, AlphaMissense 0.70
- K75N (p.Lys75Asn), NCI-TCGA Cosmic COSV9928, Ensembl rs1603063207, ESM-1b 0.00, AlphaMissense 0.94, Variant assessed as somatic; moderate impact.
- K75T (p.Lys75Thr), gnomAD 21-34370702-A-C, REVEL 0.77, ESM-1b 0.00
- R76K (p.Arg76Lys), ExAC rs748194563, gnomAD rs748194563, REVEL 0.46, ESM-1b 0.00
- R76G (p.Arg76Gly), gnomAD 21-34370704-A-G, REVEL 0.72, ESM-1b 0.00
- R76R (p.Arg76Arg), rs138831412, gnomAD 21-34370704-A-C, CADD 3.16
- R76S (p.Arg76Ser), gnomAD 21-34370706-A-C, REVEL 0.65, ESM-1b 0.00
- R77Q (p.Arg77Gln), rs199473365, ClinGen CA211464, ClinVar RCV000058369, ClinVar RCV000148523, REVEL 0.49, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 6
- R77W (p.Arg77Trp), rs141423405, ClinGen CA211462, ClinVar RCV000058367, ClinVar RCV000148522, REVEL 0.56, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
- R77L (p.Arg77Leu), gnomAD 21-34370708-G-T, REVEL 0.29, ESM-1b 0.00
- E78Q (p.Glu78Gln), gnomAD 21-34370710-G-C, REVEL 0.51, ESM-1b 0.00
- E78G (p.Glu78Gly), gnomAD 21-34370711-A-G, REVEL 0.71, ESM-1b 0.00
- E78D (p.Glu78Asp), gnomAD 21-34370712-A-T, REVEL 0.49, ESM-1b 0.00
- H79P (p.His79Pro), ExAC rs770895197, TOPMed rs770895197, gnomAD rs770895197, REVEL 0.73, ESM-1b 0.00, Uncertain significance
- H79R (p.His79Arg), rs770895197, ClinGen CA410196767, ClinVar RCV002457753, ClinVar RCV003101762, REVEL 0.46, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 6
- H79H (p.His79His), gnomAD 21-34370715-C-T, CADD 6.58
- S80P (p.Ser80Pro), rs893883306, ClinGen CA320365717, ClinVar RCV001963972, TOPMed rs893883306, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Long QT syndrome 6
- N81K (p.Asn81Lys), rs2516741131, ClinGen CA410196792, ClinVar RCV002829479, ClinVar RCV003308301, ESM-1b 0.00, AlphaMissense 0.14, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 6
- N81S (p.Asn81Ser), rs1434304789, ClinGen CA410196790, ClinVar RCV001228752, ClinVar RCV002447147, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
Public KCNE2 analysis runs
- KCNE2 analysis run — KCNE2 (302 variants) — completed 2026-10-09