SCN10A (Q9Y5Y9) variants and mutations
SCN10A (also known as Q9Y5Y9) is a human protein-coding gene encoding a sodium channel protein type 10 subunit alpha protein. The protein forms Nav1.8, a tetrodotoxin-resistant voltage-gated sodium channel found in excitable membranes. It helps generate sensory-neuron electrical signals and is especially important in mechanisms of neuropathic pain and inherited episodic pain. This analysis covers 3,282 SCN10A variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes episodic pain syndrome, familial, 2, atrial fibrillation, and cardiac arrhythmia. Example SCN10A variants include M1?, M1T, and E2D.
Variant analysis overview
- Gene: SCN10A
- Protein: Q9Y5Y9
- UniProt accession: Q9Y5Y9
- Organism: Homo sapiens
- Variants analyzed: 3282
- Variant scope: all variants
- Completed: 2026-07-23
Variant and mutation evidence
- Variant composition: 2,846 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 191 synonymous variants; 192 missense variants; 33 frameshift variants; 11 stop-gained variants; 5 in-frame deletions; 1 in-frame insertions; 1 splice-region variants
- Prediction scores: 2,861 variants have prediction scores (87% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: episodic pain syndrome, familial, 2, atrial fibrillation, cardiac arrhythmia, sodium channelopathy-related small fiber neuropathy, epilepsy, Pain, bipolar disorder, Seizure, major depressive disorder, migraine disorder, Lennox-Gastaut syndrome, Pruritus.
Protein structure and variant hotspots
- Protein features: 24 transmembrane segments; 1 domains; 16 post-translational modification sites.
- Structural context: 957 variants have structural context.
- PTM context: 18 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.
Notable SCN10A variants
Examples include M1?, M1T, E2D, E2K, P4L, P4R, P4S, P4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, NCI-TCGA Cosmic COSV7186, Variant assessed as somatic; high impact.
- M1T (p.Met1Thr), rs749292402, ClinGen CA2321323, ClinVar RCV001981360, Uncertain significance, Brugada syndrome
- E2D (p.Glu2Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E2K (p.Glu2Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P4L (p.Pro4Leu), ExAC rs781089009, gnomAD rs781089009, REVEL 0.32, MetaLR 0.61, Uncertain significance
- P4R (p.Pro4Arg), rs781089009, ClinGen CA352163558, ClinVar RCV002347001, ExAC rs781089009, REVEL 0.38, MetaLR 0.69, Uncertain significance, Cardiovascular phenotype
- P4S (p.Pro4Ser), NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71861, Variant assessed as somatic; moderate impact.
- P4T (p.Pro4Thr), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, NCI-TCGA Cosmic COSV7186, Variant assessed as somatic; moderate impact.
- I5F (p.Ile5Phe), rs1156489183, ClinGen CA352163554, cosmic curated COSV10536, ClinVar RCV000803673, REVEL 0.27, MetaLR 0.49, Uncertain significance, Brugada syndrome
- I5H (p.Ile5His), NCI-TCGA TCGA novel, MetaLR 0.62, MetaSVM -0.17, Variant assessed as somatic; high impact.
- I5T (p.Ile5Thr), rs557317287, ClinGen CA2321321, ClinVar RCV001873852, ClinVar RCV002388709, REVEL 0.26, MetaLR 0.63, Uncertain significance, Cardiovascular phenotype; not specified; Brugada syndrome
- G6R (p.Gly6Arg), rs1486527017, ClinGen CA352163541, ClinVar RCV003224043, ClinVar RCV004985315, REVEL 0.32, MetaLR 0.80, Uncertain significance, Cardiovascular phenotype; not provided
- G6V (p.Gly6Val), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, MetaLR 0.62, MetaSVM -0.07, Variant assessed as somatic; moderate impact.
- L8P (p.Leu8Pro), gnomAD rs2064320329, REVEL 0.28, MetaLR 0.51, Uncertain significance, Cardiovascular phenotype
- E9K (p.Glu9Lys), rs747174454, ClinGen CA2321320, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71860, REVEL 0.34, MetaLR 0.77, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- T10A (p.Thr10Ala), gnomAD rs2064320166, REVEL 0.22, MetaLR 0.74
- N11D (p.Asn11Asp), rs2126062026, ClinGen CA352163478, ClinVar RCV001939136, Ensembl rs2126062026, Uncertain significance, Brugada syndrome
- N11K (p.Asn11Lys), 1000Genomes rs201415200, TOPMed rs201415200, gnomAD rs201415200, REVEL 0.24, MetaLR 0.64, Likely benign
- N11S (p.Asn11Ser), rs537640883, ClinGen CA2321319, ClinVar RCV003306051, 1000Genomes rs537640883, REVEL 0.26, MetaLR 0.60, Uncertain significance, Cardiovascular phenotype
- N12D (p.Asn12Asp), gnomAD rs1209324221, REVEL 0.38, MetaLR 0.75
- F13Y (p.Phe13Tyr), rs981530434, ClinGen CA72963611, ClinVar RCV002357462, ClinVar RCV004817018, Uncertain significance, not provided; Cardiovascular phenotype
- R14C (p.Arg14Cys), rs750771811, ClinGen CA2321317, cosmic curated COSV10826, ClinVar RCV000690545, REVEL 0.81, MetaLR 0.94, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- R14H (p.Arg14His), rs141207048, ClinGen CA2321316, cosmic curated COSV71860, ClinVar RCV001206781, REVEL 0.45, MetaLR 0.82, Conflicting interpretations, Cardiovascular phenotype; not provided; Brugada syndrome
- R14L (p.Arg14Leu), rs141207048, ClinGen CA2321315, cosmic curated COSV10147, ClinVar RCV000476799, REVEL 0.84, MetaLR 0.88, Benign/Likely benign, Cardiovascular phenotype; Episodic pain syndrome, familial, 2; not specified
- R15C (p.Arg15Cys), ExAC rs754392803, TOPMed rs754392803, gnomAD rs754392803, REVEL 0.64, MetaLR 0.89, Uncertain significance
- R15G (p.Arg15Gly), rs754392803, ClinGen CA2321314, ClinVar RCV002051246, ClinVar RCV002331349, REVEL 0.55, MetaLR 0.85, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- R15H (p.Arg15His), rs763455818, ClinGen CA2321313, NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, REVEL 0.40, MetaLR 0.85, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- R15P (p.Arg15Pro), rs763455818, ClinGen CA352163431, ClinVar RCV002328691, Uncertain significance, Cardiovascular phenotype
- F16L (p.Phe16Leu), rs1432009058, ClinGen CA352163419, ClinVar RCV001982340, ClinVar RCV002334925, REVEL 0.66, MetaLR 0.92, Uncertain significance, not provided; Cardiovascular phenotype; Brugada syndrome
- F16S (p.Phe16Ser), rs2470902104, ClinGen CA352163414, ClinVar RCV002337871, REVEL 0.85, MetaLR 0.96, Uncertain significance, Cardiovascular phenotype
- T17A (p.Thr17Ala), rs1443029802, ClinGen CA352163404, ClinVar RCV002820780, TOPMed rs1443029802, REVEL 0.76, MetaLR 0.96, Uncertain significance, Brugada syndrome
- P18L (p.Pro18Leu), rs190176472, ClinGen CA2321311, cosmic curated COSV71860, ClinVar RCV000841266, REVEL 0.52, MetaLR 0.85, Benign/Likely benign, not provided; Brugada syndrome; Cardiovascular phenotype
- P18R (p.Pro18Arg), rs190176472, ClinGen CA352163378, ClinVar RCV002347251, 1000Genomes rs190176472, REVEL 0.42, MetaLR 0.67, Uncertain significance, Cardiovascular phenotype
- P18S (p.Pro18Ser), rs1322802155, ClinGen CA352163382, ClinVar RCV003086340, gnomAD rs1322802155, REVEL 0.45, MetaLR 0.83, Uncertain significance, Brugada syndrome
- E19K (p.Glu19Lys), rs141810266, ClinGen CA2321309, ClinVar RCV000489765, ClinVar RCV001486569, REVEL 0.85, MetaLR 0.96, Conflicting interpretations, Cardiovascular phenotype; not provided; Brugada syndrome
- L21V (p.Leu21Val), rs1553626259, ClinGen CA352163345, ClinVar RCV000638650, Ensembl rs1553626259, REVEL 0.54, MetaLR 0.96, Uncertain significance, Brugada syndrome
- E23G (p.Glu23Gly), rs1456404908, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, gnomAD rs1456404908, REVEL 0.35, MetaLR 0.75, Variant assessed as somatic; moderate impact.
- I24L (p.Ile24Leu), rs773989494, ClinGen CA2321308, ClinVar RCV002367340, ClinVar RCV003098473, REVEL 0.54, MetaLR 0.83, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- I24T (p.Ile24Thr), TOPMed rs1160387185, gnomAD rs1160387185, REVEL 0.51, MetaLR 0.86, Uncertain significance, Cardiovascular phenotype
- E25G (p.Glu25Gly), rs2470901862, ClinGen CA352163293, ClinVar RCV003152066, Uncertain significance, not provided
- E25K (p.Glu25Lys), rs2470901875, ClinGen CA352163300, ClinVar RCV002380521, NCI-TCGA Cosmic COSV7186, Uncertain significance, Cardiovascular phenotype
- K26T (p.Lys26Thr), NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, MetaLR 0.80, MetaSVM 0.26, Variant assessed as somatic; moderate impact.
- Q27R (p.Gln27Arg), cosmic curated COSV71862, ESP rs367571651, ExAC rs367571651, TOPMed rs367571651, REVEL 0.26, MetaLR 0.30, Conflicting interpretations, Cardiovascular phenotype; Brugada syndrome
- A29V (p.Ala29Val), ExAC rs749126779, gnomAD rs749126779, REVEL 0.26, MetaLR 0.83
- A30T (p.Ala30Thr), NCI-TCGA Cosmic COSV7186, cosmic curated COSV71861, REVEL 0.33, MetaLR 0.90, Variant assessed as somatic; moderate impact.
- A30V (p.Ala30Val), NCI-TCGA TCGA novel, MetaLR 0.88, MetaSVM 0.35, Variant assessed as somatic; moderate impact.
- K31E (p.Lys31Glu), rs2470901730, ClinGen CA352163215, ClinVar RCV003021342, REVEL 0.28, MetaLR 0.44, Uncertain significance, Brugada syndrome
- Q32K (p.Gln32Lys), rs2470901690, ClinGen CA352163202, ClinVar RCV002374119, Uncertain significance, Cardiovascular phenotype
- Q32R (p.Gln32Arg), rs2064318777, ClinGen CA352163195, ClinVar RCV002031004, TOPMed rs2064318777, REVEL 0.20, MetaLR 0.69, Uncertain significance, Brugada syndrome
- G33E (p.Gly33Glu), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, REVEL 0.17, MetaLR 0.47, Variant assessed as somatic; moderate impact.
- G33R (p.Gly33Arg), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, cosmic curated COSV10611, Ensembl rs2064318735, REVEL 0.20, MetaLR 0.60, Variant assessed as somatic; moderate impact.
- T34A (p.Thr34Ala), gnomAD rs1452309366, REVEL 0.16, MetaLR 0.47
- T34I (p.Thr34Ile), rs1025338659, ClinGen CA352163169, ClinVar RCV002604716, Uncertain significance, Brugada syndrome
- T34K (p.Thr34Lys), TOPMed rs1025338659, gnomAD rs1025338659, REVEL 0.20, MetaLR 0.40, Uncertain significance
- T34R (p.Thr34Arg), rs1025338659, ClinGen CA72963561, ClinVar RCV001363942, ClinVar RCV002261355, REVEL 0.21, MetaLR 0.46, Uncertain significance, Cardiovascular phenotype; not provided; Brugada syndrome
- R38I (p.Arg38Ile), NCI-TCGA Cosmic COSV7186, cosmic curated COSV71860, MetaLR 0.69, MetaSVM -0.10, Variant assessed as somatic; moderate impact.
- E39D (p.Glu39Asp), rs2470901527, ClinGen CA352163104, ClinVar RCV003820254, Uncertain significance, Brugada syndrome
- E39G (p.Glu39Gly), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, REVEL 0.18, MetaLR 0.66, Variant assessed as somatic; moderate impact.
- E39K (p.Glu39Lys), rs570161889, ClinGen CA2321304, ClinVar RCV002373289, ClinVar RCV006470633, REVEL 0.13, MetaLR 0.72, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- K40N (p.Lys40Asn), rs1553626242, ClinGen CA352163090, ClinVar RCV000552988, TOPMed rs1553626242, Uncertain significance, Brugada syndrome
- K40T (p.Lys40Thr), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, MetaLR 0.73, MetaSVM 0.04, Variant assessed as somatic; moderate impact.
- H41Q (p.His41Gln), rs747084510, ClinGen CA72963559, ClinVar RCV002382668, ClinVar RCV006469778, REVEL 0.25, MetaLR 0.66, Uncertain significance, Cardiovascular phenotype
- R42K (p.Arg42Lys), NCI-TCGA TCGA novel, ExAC rs780164986, TOPMed rs780164986, gnomAD rs780164986, REVEL 0.21, MetaLR 0.70, Uncertain significance, Brugada syndrome
- E43K (p.Glu43Lys), NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, REVEL 0.20, MetaLR 0.72, Variant assessed as somatic; moderate impact.
- Q44H (p.Gln44His), NCI-TCGA Cosmic COSV7186, cosmic curated COSV71860, Variant assessed as somatic; moderate impact.
- Q44K (p.Gln44Lys), rs2470901401, ClinGen CA352163047, ClinVar RCV002385395, REVEL 0.25, MetaLR 0.74, Uncertain significance, Cardiovascular phenotype
- K45E (p.Lys45Glu), Ensembl rs2064318085
- K45M (p.Lys45Met), gnomAD rs1373042549, REVEL 0.38, MetaLR 0.84
- K45N (p.Lys45Asn), cosmic curated COSV71860, Ensembl rs1575184008, MetaLR 0.75, MetaSVM -0.01, Likely benign
- Q47* (p.Gln47Ter), rs2064317968, ClinGen CA352162999, ClinVar RCV002389208, TOPMed rs2064317968, Uncertain significance
- Q47H (p.Gln47His), TOPMed rs2064317862, gnomAD rs2064317862, REVEL 0.35, MetaLR 0.69
- Q47R (p.Gln47Arg), gnomAD rs1317981802, REVEL 0.20, MetaLR 0.69
- E48D (p.Glu48Asp), Ensembl rs368338265, REVEL 0.11, MetaLR 0.62, Uncertain significance, Brugada syndrome
- E48K (p.Glu48Lys), rs1433639626, ClinGen CA352162988, ClinVar RCV003186695, gnomAD rs1433639626, Uncertain significance, Cardiovascular phenotype
- E49K (p.Glu49Lys), gnomAD rs866362615, Uncertain significance, Cardiovascular phenotype
- E49Q (p.Glu49Gln), rs866362615, ClinGen CA352162973, ClinVar RCV004162327, ClinVar RCV006473312, REVEL 0.33, MetaLR 0.91, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- K50T (p.Lys50Thr), rs757655001, ClinGen CA2321298, ClinVar RCV000699317, ClinVar RCV002388297, REVEL 0.35, MetaLR 0.87, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- P51A (p.Pro51Ala), rs368312678, ClinGen CA72963535, ClinVar RCV001060807, ClinVar RCV002393298, REVEL 0.29, MetaLR 0.78, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- P51S (p.Pro51Ser), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, ESP rs368312678, TOPMed rs368312678, REVEL 0.29, MetaLR 0.82, Uncertain significance
- P51T (p.Pro51Thr), rs368312678, ClinGen CA352162946, ClinVar RCV001771525, ClinVar RCV001868622, REVEL 0.28, MetaLR 0.84, Uncertain significance, not provided; Brugada syndrome
- R52Q (p.Arg52Gln), rs778340868, ClinGen CA2321296, ClinVar RCV002405379, ClinVar RCV005254084, REVEL 0.30, MetaLR 0.85, Uncertain significance, not provided; Cardiovascular phenotype
- R52W (p.Arg52Trp), rs754234000, ClinGen CA2321297, ClinVar RCV002403341, ClinVar RCV003096913, REVEL 0.46, MetaLR 0.91, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- P53H (p.Pro53His), NCI-TCGA Cosmic COSV7186, MetaLR 0.96, MetaSVM 1.10, Variant assessed as somatic; moderate impact.
- P53L (p.Pro53Leu), rs752235456, ClinGen CA352162919, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71861, REVEL 0.75, MetaLR 0.96, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- P53R (p.Pro53Arg), rs752235456, ClinGen CA2321294, ClinVar RCV001921936, ClinVar RCV002397833, REVEL 0.76, MetaLR 0.95, Uncertain significance, Episodic pain syndrome, familial, 2; Cardiovascular phenotype; Brugada syndrome
- Q54* (p.Gln54Ter), Ensembl rs1559469178, CADD 36.00
- L55M (p.Leu55Met), ExAC rs763817509, gnomAD rs763817509, REVEL 0.33, MetaLR 0.91
- D56E (p.Asp56Glu), ExAC rs759227621, TOPMed rs759227621, gnomAD rs759227621, REVEL 0.36, MetaLR 0.82
- L57V (p.Leu57Val), ExAC rs751243180, gnomAD rs751243180, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- L57W (p.Leu57Trp), rs2126061797, ClinGen CA352162869, ClinVar RCV001996581, Ensembl rs2126061797, REVEL 0.81, MetaLR 0.98, Uncertain significance, Brugada syndrome
- K58N (p.Lys58Asn), TOPMed rs2064316981, MetaLR 0.71, MetaSVM 0.26
- A59S (p.Ala59Ser), NCI-TCGA TCGA novel, MetaLR 0.95, MetaSVM 1.09, Variant assessed as somatic; moderate impact.
- A59T (p.Ala59Thr), cosmic curated COSV10471, TOPMed rs2064316937, REVEL 0.63, MetaLR 0.94
- C60* (p.Cys60Ter), ExAC rs762808748, gnomAD rs762808748, CADD 35.00
- C60Y (p.Cys60Tyr), rs145900411, ClinGen CA2321290, ClinVar RCV000983846, ClinVar RCV001664586, REVEL 0.57, MetaLR 0.83, Conflicting interpretations, Cardiovascular phenotype; not provided; not specified
- N61K (p.Asn61Lys), gnomAD rs1440527140, REVEL 0.31, MetaLR 0.46
- Q62E (p.Gln62Glu), gnomAD rs1251803173, REVEL 0.23, MetaLR 0.75
- L63V (p.Leu63Val), gnomAD rs2064316629, REVEL 0.60, MetaLR 0.91
- P64L (p.Pro64Leu), NCI-TCGA TCGA novel, MetaLR 0.98, MetaSVM 1.05, Variant assessed as somatic; moderate impact.
- P64S (p.Pro64Ser), rs2126061757, ClinGen CA352162780, ClinVar RCV001890592, Ensembl rs2126061757, REVEL 0.86, MetaLR 0.98, Uncertain significance, Brugada syndrome
- K65N (p.Lys65Asn), NCI-TCGA TCGA novel, MetaLR 0.69, MetaSVM -0.15, Variant assessed as somatic; moderate impact.
- K65R (p.Lys65Arg), cosmic curated COSV71860, TOPMed rs1028618421, gnomAD rs1028618421, REVEL 0.29, MetaLR 0.56, Likely benign, Cardiovascular phenotype
- K65T (p.Lys65Thr), NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, REVEL 0.27, MetaLR 0.66, Variant assessed as somatic; moderate impact.
- F66L (p.Phe66Leu), rs199812598, ClinGen CA2321287, ClinVar RCV002423470, ClinVar RCV006629451, REVEL 0.31, MetaLR 0.58, Conflicting interpretations, Brugada syndrome; Cardiovascular phenotype
- F66S (p.Phe66Ser), rs761786138, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, ExAC rs761786138, REVEL 0.65, MetaLR 0.84, Variant assessed as somatic; moderate impact.
- Y67C (p.Tyr67Cys), gnomAD rs1308883210, REVEL 0.70, MetaLR 0.94, Uncertain significance, not provided
- G68D (p.Gly68Asp), gnomAD rs1227118356, REVEL 0.86, MetaLR 0.96
- G68V (p.Gly68Val), NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, MetaLR 0.96, MetaSVM 1.10, Variant assessed as somatic; moderate impact.
- E69G (p.Glu69Gly), ExAC rs775516663, gnomAD rs775516663, REVEL 0.29, MetaLR 0.77
- E69K (p.Glu69Lys), NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, Variant assessed as somatic; moderate impact.
- L70V (p.Leu70Val), Ensembl rs2126061720
- P71L (p.Pro71Leu), ExAC rs772170435, TOPMed rs772170435, gnomAD rs772170435, REVEL 0.80, MetaLR 0.97, Uncertain significance, Cardiovascular phenotype
- E73* (p.Glu73Ter), rs1333951004, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71860, TOPMed rs1333951004, CADD 36.00, Variant assessed as somatic; high impact.
- L74M (p.Leu74Met), gnomAD rs1435652224
- L74P (p.Leu74Pro), rs2064315891, ClinGen CA352162642, ClinVar RCV002428068, TOPMed rs2064315891, Uncertain significance, Cardiovascular phenotype
- I75S (p.Ile75Ser), TOPMed rs1200209497, gnomAD rs1200209497, REVEL 0.43, MetaLR 0.78, Uncertain significance
- I75T (p.Ile75Thr), rs1200209497, ClinGen CA352162629, ClinVar RCV001231565, ClinVar RCV002429987, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- G76E (p.Gly76Glu), TOPMed rs2064315656
- G76R (p.Gly76Arg), rs749652481, ClinGen CA352162620, cosmic curated COSV71862, ClinVar RCV003118203, REVEL 0.52, MetaLR 0.93, Uncertain significance, Brugada syndrome
- E77K (p.Glu77Lys), rs1429242461, ClinGen CA352162613, cosmic curated COSV10147, ClinVar RCV002428463, REVEL 0.48, MetaLR 0.87, Uncertain significance, Cardiovascular phenotype
- E77Q (p.Glu77Gln), gnomAD rs1429242461, REVEL 0.37, MetaLR 0.89, Uncertain significance
- P78A (p.Pro78Ala), rs753292241, ClinGen CA2321277, ClinVar RCV002448188, ClinVar RCV003098805, REVEL 0.82, MetaLR 0.97, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- P78L (p.Pro78Leu), ExAC rs780804421, gnomAD rs780804421, REVEL 0.86, MetaLR 0.97
- P78S (p.Pro78Ser), rs753292241, ClinGen CA2321278, ClinVar RCV000498801, ClinVar RCV001237432, REVEL 0.89, MetaLR 0.98, Conflicting interpretations, not provided; Cardiovascular phenotype; Brugada syndrome
- P78T (p.Pro78Thr), ExAC rs753292241, TOPMed rs753292241, gnomAD rs753292241, REVEL 0.87, MetaLR 0.97, Uncertain significance, Cardiovascular phenotype
- E80* (p.Glu80Ter), rs1053152886, ClinGen CA352162579, ClinVar RCV003216716, Uncertain significance
- E80K (p.Glu80Lys), cosmic curated COSV71862, TOPMed rs1053152886, gnomAD rs1053152886, REVEL 0.93, MetaLR 0.97
- D81E (p.Asp81Glu), rs1060501717, ClinGen CA16611303, ClinVar RCV000475022, ClinVar RCV000786209, REVEL 0.48, MetaLR 0.92, Uncertain significance, Brugada syndrome
- D81N (p.Asp81Asn), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, MetaLR 0.92, MetaSVM 0.80, Variant assessed as somatic; moderate impact.
- D83N (p.Asp83Asn), cosmic curated COSV10826, Ensembl rs2064315255, REVEL 0.80, MetaLR 0.98
- P84L (p.Pro84Leu), rs140609990, ClinGen CA2321275, cosmic curated COSV10471, ClinVar RCV001443889, REVEL 0.66, MetaLR 0.90, Conflicting interpretations, not provided; Cardiovascular phenotype; Brugada syndrome
- Y86C (p.Tyr86Cys), rs1173154320, ClinGen CA352162492, ClinVar RCV000686498, ClinVar RCV002458203, REVEL 0.88, MetaLR 0.95, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- Y86H (p.Tyr86His), TOPMed rs2064315009
- S87N (p.Ser87Asn), rs766047928, ClinGen CA2321273, ClinVar RCV002437170, ExAC rs766047928, REVEL 0.23, MetaLR 0.74, Uncertain significance, Cardiovascular phenotype
- S87R (p.Ser87Arg), gnomAD rs1443796927, REVEL 0.26, MetaLR 0.63
- T88A (p.Thr88Ala), TOPMed rs1274546439, gnomAD rs1274546439, REVEL 0.18, MetaLR 0.73
- T88I (p.Thr88Ile), rs1226072923, ClinGen CA352162460, ClinVar RCV000638739, ClinVar RCV004768492, Uncertain significance, Brugada syndrome; not provided
- T88R (p.Thr88Arg), rs1226072923, ClinGen CA352162462, ClinVar RCV002452966, TOPMed rs1226072923, REVEL 0.60, MetaLR 0.75, Uncertain significance, Cardiovascular phenotype
- R90=, NCI-TCGA Cosmic COSV7186, Variant assessed as somatic; low impact.
- R90Q (p.Arg90Gln), rs1284416574, ClinGen CA352162440, cosmic curated COSV71862, ClinVar RCV002453211, REVEL 0.51, MetaLR 0.75, Uncertain significance, Cardiovascular phenotype
- R90W (p.Arg90Trp), rs144270136, ClinGen CA2321271, cosmic curated COSV10753, ClinVar RCV000228334, REVEL 0.67, MetaLR 0.73, Benign/Likely benign, Cardiovascular phenotype; not specified; Brugada syndrome
- F92C (p.Phe92Cys), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, MetaLR 0.96, MetaSVM 1.10, Variant assessed as somatic; moderate impact.
- F92L (p.Phe92Leu), ExAC rs781764568, TOPMed rs781764568, gnomAD rs781764568, REVEL 0.88, MetaLR 0.96
- M93I (p.Met93Ile), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, REVEL 0.29, MetaLR 0.36, Variant assessed as somatic; moderate impact.
- M93K (p.Met93Lys), cosmic curated COSV71862, gnomAD rs1286871655, MetaLR 0.81, MetaSVM 0.88
- M93T (p.Met93Thr), gnomAD rs1286871655, REVEL 0.60, MetaLR 0.80
- V94G (p.Val94Gly), rs202143516, ClinGen CA2321257, ClinVar RCV000987255, ClinVar RCV001491365, REVEL 0.99, MetaLR 0.95, Conflicting interpretations, Brugada syndrome; Brugada syndrome 1; Cardiovascular phenotype
- L95M (p.Leu95Met), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, Variant assessed as somatic; moderate impact.
- L95P (p.Leu95Pro), TOPMed rs2064291016, REVEL 0.87, MetaLR 0.94
- K97N (p.Lys97Asn), TOPMed rs1434479522, gnomAD rs1434479522, REVEL 0.56, MetaLR 0.94
- G98R (p.Gly98Arg), rs1322189440, ClinGen CA352161448, cosmic curated COSV71860, ClinVar RCV002440044, REVEL 0.58, MetaLR 0.88, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- R99G (p.Arg99Gly), gnomAD rs1326877942
- R99K (p.Arg99Lys), cosmic curated COSV10659, Ensembl rs2064290705, REVEL 0.23, MetaLR 0.55, Uncertain significance, Brugada syndrome
- T100I (p.Thr100Ile), rs758035498, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71861, ExAC rs758035498, REVEL 0.51, MetaLR 0.89, Uncertain significance
- T100N (p.Thr100Asn), rs758035498, ClinGen CA72962609, ClinVar RCV001206709, ClinVar RCV002484116, REVEL 0.44, MetaLR 0.91, Uncertain significance, Brugada syndrome; Cardiovascular phenotype; Episodic pain syndrome, familial, 2
- I101M (p.Ile101Met), rs937688973, ClinGen CA352161320, ClinVar RCV002444001, Ensembl rs937688973, Uncertain significance, Cardiovascular phenotype
- S102C (p.Ser102Cys), rs866597161, ClinGen CA352161306, ClinVar RCV001732556, ClinVar RCV003298957, REVEL 0.56, MetaLR 0.78, Uncertain significance, Brugada syndrome; not provided; Cardiovascular phenotype
- S102F (p.Ser102Phe), cosmic curated COSV10659, TOPMed rs866597161, gnomAD rs866597161, MetaLR 0.36, MetaSVM -0.52, Uncertain significance, Brugada syndrome
- R103L (p.Arg103Leu), NCI-TCGA TCGA novel, REVEL 0.88, MetaLR 0.96, Variant assessed as somatic; moderate impact.
- R103Q (p.Arg103Gln), rs199973777, ClinGen CA2321252, ClinVar RCV000638754, ClinVar RCV002325237, REVEL 0.79, MetaLR 0.96, Likely benign, Cardiovascular phenotype; not provided; Brugada syndrome
- R103W (p.Arg103Trp), rs750073618, ClinGen CA2321253, NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7186, REVEL 0.75, MetaLR 0.95, Uncertain significance, Cardiovascular phenotype; Brugada syndrome
- S105I (p.Ser105Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S105R (p.Ser105Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A106V (p.Ala106Val), TOPMed rs1471527204, REVEL 0.80, MetaLR 0.95
- T107A (p.Thr107Ala), ExAC rs757050845, TOPMed rs757050845, gnomAD rs757050845, REVEL 0.59, MetaLR 0.90, Uncertain significance
- T107S (p.Thr107Ser), rs757050845, ClinGen CA2321251, cosmic curated COSV10536, ClinVar RCV000699094, REVEL 0.54, MetaLR 0.90, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- R108G (p.Arg108Gly), TOPMed rs1131691525, gnomAD rs1131691525, REVEL 0.44, MetaLR 0.75, Uncertain significance
- R108L (p.Arg108Leu), rs141278729, ClinGen CA352161133, ClinVar RCV003387213, REVEL 0.43, MetaLR 0.75, Uncertain significance, Cardiovascular phenotype
- R108Q (p.Arg108Gln), rs141278729, ClinGen CA2321250, ClinVar RCV002445588, ClinVar RCV003099324, REVEL 0.30, MetaLR 0.72, Uncertain significance, Cardiovascular phenotype; not provided; Brugada syndrome
- R108W (p.Arg108Trp), rs1131691525, ClinGen CA352161136, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, REVEL 0.29, MetaLR 0.72, Uncertain significance, not provided; Brugada syndrome; Cardiovascular phenotype
- W111C (p.Trp111Cys), TOPMed rs1043114273, gnomAD rs1043114273, REVEL 0.56, MetaLR 0.84
- W111R (p.Trp111Arg), rs764007884, NCI-TCGA Cosmic COSV1014, cosmic curated COSV10147, ExAC rs764007884, REVEL 0.62, MetaLR 0.87, Variant assessed as somatic; moderate impact.
- L112V (p.Leu112Val), rs2470895374, ClinGen CA352161040, ClinVar RCV002320965, Uncertain significance, Cardiovascular phenotype
- F113L (p.Phe113Leu), rs2470895351, ClinGen CA352161005, ClinVar RCV003834868, REVEL 0.27, MetaLR 0.41, Uncertain significance, Brugada syndrome
- S114N (p.Ser114Asn), TOPMed rs1317884608, gnomAD rs1317884608, REVEL 0.55, MetaLR 0.94, Uncertain significance, Cardiovascular phenotype
- P115H (p.Pro115His), cosmic curated COSV10753, NCI-TCGA Cosmic COSV7186, Variant assessed as somatic; moderate impact.
- P115L (p.Pro115Leu), rs760579685, ClinGen CA72962573, NCI-TCGA Cosmic COSV7186, cosmic curated COSV71862, REVEL 0.86, MetaLR 0.95, Uncertain significance, Brugada syndrome; Cardiovascular phenotype
- P115R (p.Pro115Arg), ExAC rs760579685, gnomAD rs760579685, REVEL 0.92, MetaLR 0.95, Uncertain significance
- F116S (p.Phe116Ser), TOPMed rs947179485, MetaLR 0.94, MetaSVM 1.09
- N117H (p.Asn117His), rs774462243, ClinGen CA2321247, ClinVar RCV001364144, ClinVar RCV003319468, REVEL 0.29, MetaLR 0.75, Conflicting interpretations, Cardiovascular phenotype; not provided; Brugada syndrome
Public SCN10A analysis runs
- SCN10A analysis run — SCN10A (3,282 variants) — completed 2026-07-23