TRDN (Triadin) variants and mutations
TRDN (also known as Triadin) is a human protein-coding gene encoding a triadin protein. It organizes the sarcoplasmic-reticulum calcium-release complex and helps couple calsequestrin and ryanodine receptors in cardiac and skeletal muscle. Biallelic loss-of-function variants cause triadin knockout syndrome with severe exercise- or stress-triggered ventricular arrhythmias. This analysis covers 1,235 TRDN variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia 1, and Abnormality of the cardiovascular system. Example TRDN variants include M1?, M1T, and T2S.
Variant analysis overview
- Gene: TRDN
- Protein: Triadin
- UniProt accession: Q13061
- Organism: Homo sapiens
- Variants analyzed: 1235
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,109 unspecified-consequence records; 2 stop lost; 1 stop retained variant; 39 synonymous variants; 62 missense variants; 11 frameshift variants; 5 splice-region variants; 6 stop-gained variants
- Prediction scores: 1,106 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia 1, Abnormality of the cardiovascular system, Prolonged QT interval, Abnormality of the skeletal system, familial long QT syndrome, Romano-Ward syndrome, amyotrophic lateral sclerosis, hypotensive disorder, nervous system disorder, cervical carcinoma, placenta praevia.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 post-translational modification sites.
- Structural context: 31 variants have structural context.
- PTM context: 2 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 TRDN variants
Examples include M1?, M1T, T2S, E3D, E3V, T5I, T5S, A6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs779415181, NCI-TCGA Cosmic COSV6212, MetaLR 0.38, MetaSVM -0.20, Variant assessed as somatic; high impact.
- M1T (p.Met1Thr), rs1209337990, ClinGen CA365568008, ClinVar RCV002435645, ClinVar RCV003102962, MetaLR 0.44, MetaSVM -0.03, Pathogenic, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- T2S (p.Thr2Ser), gnomAD rs1484432039, REVEL 0.18, CADD 26.30
- E3D (p.Glu3Asp), rs1185669572, NCI-TCGA TCGA novel, ClinGen CA365567992, ClinVar RCV002573384, AlphaMissense 0.68, MetaLR 0.38, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- E3V (p.Glu3Val), ExAC rs757975935, gnomAD rs757975935, REVEL 0.38, CADD 29.10
- T5I (p.Thr5Ile), rs750046661, ClinGen CA365567979, cosmic curated COSV62125, ClinVar RCV004523882, REVEL 0.20, CADD 26.40, Uncertain significance, Cardiovascular phenotype
- T5S (p.Thr5Ser), ExAC rs750046661, TOPMed rs750046661, gnomAD rs750046661, REVEL 0.10, CADD 25.60, Uncertain significance
- A6V (p.Ala6Val), rs764897557, ClinGen CA3984523, ClinVar RCV000607773, ClinVar RCV002487077, REVEL 0.09, CADD 22.70, Conflicting interpretations, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- E7D (p.Glu7Asp), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, MetaLR 0.32, MetaSVM -0.43, Variant assessed as somatic; moderate impact.
- G8A (p.Gly8Ala), ExAC rs773616629
- G8R (p.Gly8Arg), rs1350873943, ClinGen CA365567964, ClinVar RCV004523897, TOPMed rs1350873943, REVEL 0.28, CADD 36.00, Likely pathogenic, Cardiovascular phenotype
- N9D (p.Asn9Asp), rs768303943, ClinGen CA3984491, ClinVar RCV002507086, ClinVar RCV002529901, REVEL 0.12, CADD 23.90, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym
- A10E (p.Ala10Glu), rs75703547, ClinGen CA147302804, ClinVar RCV002801007, Ensembl rs75703547, AlphaMissense 0.50, MetaLR 0.15, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- S11F (p.Ser11Phe), rs760549842, ClinGen CA3984490, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, REVEL 0.15, CADD 23.90, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym
- T12K (p.Thr12Lys), Ensembl rs2114538250
- T12R (p.Thr12Arg), rs2114538250, ClinGen CA365569419, ClinVar RCV003296966, AlphaMissense 0.52, MetaLR 0.38, Uncertain significance, Cardiovascular phenotype
- T13A (p.Thr13Ala), Ensembl rs1782556406
- T13I (p.Thr13Ile), TOPMed rs1782556300
- T14I (p.Thr14Ile), rs2114538213, ClinGen CA365569407, ClinVar RCV002548591, Ensembl rs2114538213, REVEL 0.45, CADD 27.70, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- V16L (p.Val16Leu), rs974343553, ClinGen CA147302801, ClinVar RCV000609364, ClinVar RCV002334018, REVEL 0.21, CADD 24.50, Uncertain significance, Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul
- I17M (p.Ile17Met), ESP rs375486432, ExAC rs375486432, TOPMed rs375486432, gnomAD rs375486432, REVEL 0.25, CADD 21.40
- I17T (p.Ile17Thr), rs1583264951, ClinGen CA365569390, ClinVar RCV002538175, Ensembl rs1583264951, REVEL 0.22, CADD 23.80, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- D18E (p.Asp18Glu), Ensembl rs1782555596, REVEL 0.19, CADD 25.30
- D18H (p.Asp18His), rs372554839, ClinGen CA3984488, ClinVar RCV002350661, ClinVar RCV002547535, REVEL 0.42, AlphaMissense 0.85, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- D18N (p.Asp18Asn), rs372554839, ClinGen CA365569388, ClinVar RCV003296968, AlphaMissense 0.85, MetaLR 0.47, Uncertain significance, Cardiovascular phenotype
- N21S (p.Asn21Ser), gnomAD rs1311784170, REVEL 0.19, AlphaMissense 0.36
- N21T (p.Asn21Thr), rs1311784170, ClinGen CA365569362, ClinVar RCV003027164, AlphaMissense 0.36, MetaLR 0.40, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- G22* (p.Gly22Ter), gnomAD rs1309171208
- G22E (p.Gly22Glu), cosmic curated COSV62116, Ensembl rs1782554875
- G22R (p.Gly22Arg), gnomAD rs1309171208, REVEL 0.45, CADD 27.90
- G22V (p.Gly22Val), rs1782554875, ClinGen CA365569353, ClinVar RCV003296005, ClinVar RCV004790527, REVEL 0.42, CADD 26.00, Uncertain significance, not provided; Cardiovascular phenotype
- S23C (p.Ser23Cys), rs2534610362, ClinGen CA365569347, ClinVar RCV002378048, Uncertain significance, Cardiovascular phenotype
- V24E (p.Val24Glu), rs201097255, ClinGen CA3984484, ClinVar RCV000620120, ClinVar RCV001712418, REVEL 0.29, CADD 27.30, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; not provided; Catechola
- V24M (p.Val24Met), rs2534610345, ClinGen CA365569345, ClinVar RCV003384972, REVEL 0.08, CADD 23.60, Uncertain significance, Cardiovascular phenotype
- P25L (p.Pro25Leu), gnomAD rs1477467742, REVEL 0.23, CADD 24.00
- P25S (p.Pro25Ser), NCI-TCGA Cosmic COSV6212, cosmic curated COSV62125, MetaLR 0.31, MetaSVM -0.39, Variant assessed as somatic; moderate impact.
- P25T (p.Pro25Thr), TOPMed rs1007862871, gnomAD rs1007862871, REVEL 0.26, CADD 25.40, Uncertain significance, Cardiovascular phenotype
- K26Q (p.Lys26Gln), NCI-TCGA TCGA novel, MetaLR 0.20, MetaSVM -0.33, Variant assessed as somatic; moderate impact.
- K26R (p.Lys26Arg), rs889510568, ClinGen CA147302788, ClinVar RCV002409892, TOPMed rs889510568, REVEL 0.05, CADD 18.90, Uncertain significance, Cardiovascular phenotype
- S27C (p.Ser27Cys), ExAC rs770488451, gnomAD rs770488451, REVEL 0.19, CADD 25.20, Uncertain significance
- S27F (p.Ser27Phe), rs770488451, ClinGen CA3984482, ClinVar RCV002423069, ClinVar RCV002560520, REVEL 0.19, CADD 25.50, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- P28S (p.Pro28Ser), 1000Genomes rs535781216, ExAC rs535781216, TOPMed rs535781216, gnomAD rs535781216, REVEL 0.04, CADD 17.60
- G29* (p.Gly29Ter), ExAC rs763469367, TOPMed rs763469367, gnomAD rs763469367, CADD 37.00, Uncertain significance
- G29R (p.Gly29Arg), rs763469367, ExAC rs763469367, TOPMed rs763469367, gnomAD rs763469367, REVEL 0.15, CADD 24.50, Conflicting interpretations, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- K30N (p.Lys30Asn), rs2114537932, ClinGen CA365569310, ClinVar RCV003107896, Ensembl rs2114537932, AlphaMissense 0.73, MetaLR 0.25, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- K30R (p.Lys30Arg), ExAC rs781494795, TOPMed rs781494795, gnomAD rs781494795, REVEL 0.14, CADD 23.00
- V31A (p.Val31Ala), Ensembl rs2114537900
- V31E (p.Val31Glu), rs2114537900, ClinGen CA365569305, ClinVar RCV003020461, AlphaMissense 0.37, MetaLR 0.22, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- V31L (p.Val31Leu), gnomAD rs1484101827, REVEL 0.08, CADD 18.40
- L32M (p.Leu32Met), rs755548582, ClinGen CA365569301, cosmic curated COSV10589, ClinVar RCV002537330, CADD 1.43, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- R34M (p.Arg34Met), gnomAD rs1258138360, REVEL 0.30, CADD 25.70
- R34T (p.Arg34Thr), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, Variant assessed as somatic; moderate impact.
- T35I (p.Thr35Ile), ExAC rs766543304, gnomAD rs766543304, REVEL 0.26, CADD 26.30
- T35S (p.Thr35Ser), TOPMed rs1167156425, gnomAD rs1167156425, REVEL 0.06, CADD 17.70
- V36G (p.Val36Gly), TOPMed rs1782552234, REVEL 0.36, CADD 28.30
- T37I (p.Thr37Ile), rs1289581577, ClinGen CA365569266, ClinVar RCV002458240, ClinVar RCV002531469, REVEL 0.27, CADD 26.20, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- T37K (p.Thr37Lys), TOPMed rs1289581577, gnomAD rs1289581577, Uncertain significance
- T37S (p.Thr37Ser), rs1554258810, ClinGen CA365569269, ClinVar RCV000639063, Ensembl rs1554258810, AlphaMissense 0.34, MetaLR 0.28, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia
- E38K (p.Glu38Lys), NCI-TCGA Cosmic COSV6212, cosmic curated COSV62125, Variant assessed as somatic; moderate impact.
- D39H (p.Asp39His), NCI-TCGA TCGA novel, REVEL 0.46, CADD 26.60, Variant assessed as somatic; high impact.
- D39N (p.Asp39Asn), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, NCI-TCGA Cosmic COSV6212, Variant assessed as somatic; moderate impact.
- D39V (p.Asp39Val), rs763164617, ClinGen CA3984472, ClinVar RCV002329871, ExAC rs763164617, REVEL 0.65, CADD 28.70, Uncertain significance, Cardiovascular phenotype
- D39Y (p.Asp39Tyr), NCI-TCGA Cosmic COSV1005, NCI-TCGA Cosmic COSV6212, cosmic curated COSV62121, Variant assessed as somatic; moderate impact.
- I40M (p.Ile40Met), rs1376161348, ClinGen CA365569246, ClinVar RCV003380025, TOPMed rs1376161348, REVEL 0.09, CADD 17.60, Uncertain significance, Cardiovascular phenotype
- I40R (p.Ile40Arg), ExAC rs760326107, TOPMed rs760326107, gnomAD rs760326107, REVEL 0.30, CADD 26.30, Uncertain significance
- I40T (p.Ile40Thr), rs760326107, ClinGen CA3984469, ClinVar RCV002611225, ClinVar RCV006363258, REVEL 0.19, CADD 24.10, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- I40V (p.Ile40Val), ExAC rs765514824, gnomAD rs765514824, CADD 17.70
- T42M (p.Thr42Met), rs371627659, ClinGen CA3984466, NCI-TCGA Cosmic COSV6212, cosmic curated COSV62122, REVEL 0.25, CADD 26.50, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- T42R (p.Thr42Arg), ESP rs371627659, ExAC rs371627659, TOPMed rs371627659, gnomAD rs371627659, REVEL 0.29, CADD 26.10, Uncertain significance
- T43A (p.Thr43Ala), rs367564871, ClinGen CA3984464, ClinVar RCV002507199, ClinVar RCV002544876, REVEL 0.48, CADD 26.30, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- T43K (p.Thr43Lys), ExAC rs748832633, TOPMed rs748832633, gnomAD rs748832633, Uncertain significance
- T43M (p.Thr43Met), rs748832633, ClinGen CA3984463, ClinVar RCV002551044, ExAC rs748832633, REVEL 0.58, CADD 27.60, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- T43S (p.Thr43Ser), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, ESP rs367564871, ExAC rs367564871, Uncertain significance
- F44L (p.Phe44Leu), gnomAD rs1255513715, REVEL 0.68, CADD 28.80
- F44V (p.Phe44Val), NCI-TCGA Cosmic COSV6212, cosmic curated COSV62123, Variant assessed as somatic; moderate impact.
- S45I (p.Ser45Ile), rs748395950, ClinGen CA3984460, ClinVar RCV002520399, ExAC rs748395950, REVEL 0.34, CADD 25.50, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- S45N (p.Ser45Asn), rs748395950, NCI-TCGA Cosmic COSV1005, NCI-TCGA Cosmic COSV6212, cosmic curated COSV62121, REVEL 0.29, CADD 24.80, Uncertain significance
- S45T (p.Ser45Thr), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, NCI-TCGA Cosmic COSV6212, REVEL 0.28, CADD 24.70, Variant assessed as somatic; moderate impact.
- P47S (p.Pro47Ser), cosmic curated COSV10522, Ensembl rs1201836081
- A48E (p.Ala48Glu), rs1278830566, ClinGen CA365569202, ClinVar RCV003036969, TOPMed rs1278830566, REVEL 0.34, CADD 26.60, Uncertain significance, not provided
- A48T (p.Ala48Thr), gnomAD rs1782549874, REVEL 0.29, CADD 25.40
- A49D (p.Ala49Asp), Ensembl rs2114537570
- A49P (p.Ala49Pro), rs1583264660, ClinGen CA365569198, ClinVar RCV002535877, TOPMed rs1583264660, AlphaMissense 0.78, MetaLR 0.42, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- A49T (p.Ala49Thr), TOPMed rs1583264660, Uncertain significance
- L51F (p.Leu51Phe), gnomAD rs1281065223, REVEL 0.27, CADD 26.20
- L52Q (p.Leu52Gln), rs1554258798, ClinGen CA365569176, NCI-TCGA Cosmic COSV6212, AlphaMissense 1.00, MetaLR 0.55, Uncertain significance, not specified
- V53I (p.Val53Ile), rs760122691, ClinGen CA147302754, ClinVar RCV002583562, gnomAD rs760122691, REVEL 0.52, CADD 25.40, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- V53L (p.Val53Leu), rs760122691, ClinGen CA365569173, ClinVar RCV003168119, gnomAD rs760122691, REVEL 0.71, CADD 25.70, Uncertain significance, Cardiovascular phenotype
- I54T (p.Ile54Thr), rs1562396418, ClinGen CA365569165, ClinVar RCV002544748, Ensembl rs1562396418, AlphaMissense 0.12, MetaLR 0.23, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- A55T (p.Ala55Thr), gnomAD rs1230796592, REVEL 0.69, CADD 26.90
- A55V (p.Ala55Val), rs1333255264, ClinGen CA365569156, ClinVar RCV002592531, gnomAD rs1333255264, REVEL 0.73, CADD 28.60, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- L56P (p.Leu56Pro), rs1060502116, ClinGen CA16612018, ClinVar RCV000786235, ClinVar RCV001580171, AlphaMissense 1.00, MetaLR 0.66, Conflicting interpretations, Catecholaminergic polymorphic ventricular tachycardia 1; not provided
- I58N (p.Ile58Asn), rs758502934, ClinGen CA3984455, ClinVar RCV002401387, ExAC rs758502934, REVEL 0.40, CADD 29.20, Uncertain significance, Cardiovascular phenotype
- I58V (p.Ile58Val), gnomAD rs1446733532, REVEL 0.03, CADD 16.40
- T59K (p.Thr59Lys), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, Variant assessed as somatic; moderate impact., in CARDAR
- T59M (p.Thr59Met), rs397515459, ClinGen CA3984454, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, REVEL 0.61, AlphaMissense 0.83, Conflicting interpretations, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- T59R (p.Thr59Arg), rs397515459, ClinGen CA144823, ClinVar RCV000056261, UniProt VAR 067350, AlphaMissense 0.83, MetaLR 0.54, Pathogenic, Catecholaminergic polymorphic ventricular tachycardia 5
- W60* (p.Trp60Ter), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, CADD 40.00, Variant assessed as somatic; high impact.
- W60C (p.Trp60Cys), Ensembl rs1782546823, REVEL 0.92, CADD 29.40
- W60L (p.Trp60Leu), 1000Genomes rs41284436, ExAC rs41284436, gnomAD rs41284436, REVEL 0.89, CADD 28.30
- W60S (p.Trp60Ser), 1000Genomes rs41284436, ExAC rs41284436, gnomAD rs41284436
- S61* (p.Ser61Ter), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, CADD 51.00, Variant assessed as somatic; high impact.
- A62V (p.Ala62Val), rs2534609235, ClinGen CA365569116, ClinVar RCV002414891, ClinVar RCV003403817, REVEL 0.36, CADD 27.70, Uncertain significance, not specified; Cardiovascular phenotype
- V63A (p.Val63Ala), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, MetaLR 0.56, MetaSVM 0.20, Variant assessed as somatic; moderate impact.
- V63I (p.Val63Ile), gnomAD rs1782546583, REVEL 0.46, CADD 25.40
- A64D (p.Ala64Asp), gnomAD rs1458759196, REVEL 0.50, CADD 26.00
- V66F (p.Val66Phe), rs372169818, ClinGen CA3984450, cosmic curated COSV62129, ClinVar RCV000617318, REVEL 0.60, CADD 25.00, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- V66I (p.Val66Ile), rs372169818, ClinGen CA3984449, ClinVar RCV002526107, ClinVar RCV003403287, REVEL 0.27, CADD 23.00, Uncertain significance, Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul
- M67T (p.Met67Thr), rs774235224, ClinGen CA3984448, ClinVar RCV003296960, ExAC rs774235224, REVEL 0.52, CADD 26.00, Uncertain significance, Cardiovascular phenotype
- F68C (p.Phe68Cys), Ensembl rs1782545913, MetaLR 0.66, MetaSVM 0.46
- L70S (p.Leu70Ser), rs2534609037, ClinGen CA365569065, ClinVar RCV002424181, Uncertain significance, Cardiovascular phenotype
- V71M (p.Val71Met), rs776957923, ClinGen CA147302742, ClinVar RCV003090223, ClinVar RCV005764757, REVEL 0.43, CADD 24.90, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- D72N (p.Asp72Asn), rs919863113, ClinGen CA365569055, ClinVar RCV002427479, ClinVar RCV002552081, REVEL 0.77, AlphaMissense 0.94, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- D72Y (p.Asp72Tyr), rs919863113, ClinGen CA147302738, ClinVar RCV002432447, Ensembl rs919863113, AlphaMissense 0.94, MetaLR 0.61, Uncertain significance, Cardiovascular phenotype
- Y73N (p.Tyr73Asn), Ensembl rs1583264447
- K74E (p.Lys74Glu), TOPMed rs1383271854, Uncertain significance, Cardiovascular phenotype
- K74R (p.Lys74Arg), ExAC rs762312372, gnomAD rs762312372, MetaLR 0.37, MetaSVM -0.18
- N75I (p.Asn75Ile), rs368939536, ClinGen CA3984445, cosmic curated COSV62112, ClinVar RCV001700971, REVEL 0.37, CADD 26.40, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- N75K (p.Asn75Lys), cosmic curated COSV62113, Ensembl rs1583264426, MetaLR 0.27, MetaSVM -0.69
- F76L (p.Phe76Leu), rs1782541809, ClinGen CA365569025, ClinVar RCV002552226, NCI-TCGA TCGA novel, REVEL 0.10, CADD 22.00, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- S77L (p.Ser77Leu), NCI-TCGA Cosmic COSV6211, cosmic curated COSV62113, MetaLR 0.21, MetaSVM -0.89, Variant assessed as somatic; moderate impact.
- A78S (p.Ala78Ser), cosmic curated COSV10052, Ensembl rs886061035
- S79R (p.Ser79Arg), NCI-TCGA TCGA novel, REVEL 0.18, CADD 23.00, Variant assessed as somatic; moderate impact.
- S80F (p.Ser80Phe), rs181287533, ClinGen CA3984427, ClinVar RCV000519947, ClinVar RCV000621197, REVEL 0.34, CADD 26.80, Conflicting interpretations, Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul
- S80Y (p.Ser80Tyr), 1000Genomes rs181287533, ExAC rs181287533, TOPMed rs181287533, gnomAD rs181287533, REVEL 0.32, CADD 25.90, Likely benign
- A82S (p.Ala82Ser), rs2534486118, ClinVar RCV004558021, REVEL 0.07, CADD 12.50, Likely benign, EBV-positive nodal T- and NK-cell lymphoma
- A82V (p.Ala82Val), rs1230125374, ClinGen CA365568968, cosmic curated COSV62131, ClinVar RCV003009048, REVEL 0.08, CADD 23.60, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- K83N (p.Lys83Asn), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, NCI-TCGA Cosmic COSV6212, REVEL 0.28, CADD 25.20, Variant assessed as somatic; moderate impact.
- I84L (p.Ile84Leu), gnomAD rs1368559331
- I84M (p.Ile84Met), rs1781233344, ClinGen CA365568953, ClinVar RCV002750489, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- G85C (p.Gly85Cys), cosmic curated COSV10522, NCI-TCGA TCGA novel, REVEL 0.34, CADD 25.90, Variant assessed as somatic; moderate impact.
- G85S (p.Gly85Ser), Ensembl rs1583224775, REVEL 0.23, CADD 23.30
- G85V (p.Gly85Val), gnomAD rs1781232958, REVEL 0.41, CADD 25.00
- S86* (p.Ser86Ter), Ensembl rs2114437179, CADD 37.00
- D87V (p.Asp87Val), gnomAD rs1437120761, REVEL 0.46, CADD 25.80
- P88R (p.Pro88Arg), Ensembl rs2114437143
- P88T (p.Pro88Thr), NCI-TCGA TCGA novel, REVEL 0.48, CADD 24.90, Variant assessed as somatic; moderate impact.
- K90Q (p.Lys90Gln), NCI-TCGA Cosmic COSV6213, cosmic curated COSV62132, Variant assessed as somatic; moderate impact.
- K90R (p.Lys90Arg), Ensembl rs1781232346, REVEL 0.06, CADD 15.70
- V92I (p.Val92Ile), rs34808221, ClinGen CA3984424, ClinVar RCV000223000, ClinVar RCV000618057, REVEL 0.06, CADD 15.10, Benign/Likely benign, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- V92L (p.Val92Leu), rs34808221, ClinGen CA365568905, ClinVar RCV002548121, 1000Genomes rs34808221, REVEL 0.14, CADD 23.10, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- R93C (p.Arg93Cys), rs370788759, ClinGen CA3984423, cosmic curated COSV10052, ClinVar RCV000619360, REVEL 0.07, CADD 23.50, Conflicting interpretations, not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul
- R93G (p.Arg93Gly), 1000Genomes rs370788759, ESP rs370788759, ExAC rs370788759, TOPMed rs370788759, REVEL 0.04, CADD 22.90, Likely benign
- R93H (p.Arg93His), rs1371219098, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, gnomAD rs1371219098, REVEL 0.10, CADD 14.80, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- R93S (p.Arg93Ser), rs370788759, ClinGen CA365568900, ClinVar RCV003086823, 1000Genomes rs370788759, REVEL 0.02, CADD 22.80, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- D94N (p.Asp94Asn), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10052, Variant assessed as somatic; moderate impact.
- A95V (p.Ala95Val), rs764770921, ClinGen CA3984422, ClinVar RCV001001216, ClinVar RCV002434392, REVEL 0.14, CADD 24.60, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 5; Cardiovascular phenotyp
- M96T (p.Met96Thr), Ensembl rs2114437018, REVEL 0.12, CADD 22.90
- M96V (p.Met96Val), rs2114437022, ClinGen CA365568882, cosmic curated COSV62122, ClinVar RCV004523898, AlphaMissense 0.04, MetaLR 0.01, Likely benign, Cardiovascular phenotype
- E97D (p.Glu97Asp), NCI-TCGA TCGA novel, REVEL 0.26, CADD 17.50, Variant assessed as somatic; moderate impact.
- E98D (p.Glu98Asp), TOPMed rs1781231132
- E98K (p.Glu98Lys), rs1424922935, ClinGen CA365568864, NCI-TCGA Cosmic COSV6211, cosmic curated COSV62115, REVEL 0.31, CADD 25.60, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- T99S (p.Thr99Ser), rs950385278, ClinGen CA147297286, ClinVar RCV003030644, TOPMed rs950385278, AlphaMissense 0.37, MetaLR 0.22, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- T100M (p.Thr100Met), gnomAD rs1192072834, REVEL 0.30, CADD 25.10
- D101N (p.Asp101Asn), NCI-TCGA TCGA novel, REVEL 0.35, CADD 25.80, Variant assessed as somatic; moderate impact.
- W102* (p.Trp102Ter), rs2534485518, ClinGen CA365568836, ClinVar RCV002444194, CADD 37.00, Pathogenic
- W102C (p.Trp102Cys), rs2534485501, ClinGen CA365568831, ClinVar RCV002844039, ClinVar RCV003167829, REVEL 0.46, CADD 26.60, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- I103V (p.Ile103Val), rs535845814, ClinGen CA16612108, ClinVar RCV002525566, 1000Genomes rs535845814, REVEL 0.02, CADD 14.80, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- Y104C (p.Tyr104Cys), rs1345111830, ClinGen CA365568821, ClinVar RCV002325529, ClinVar RCV002537100, REVEL 0.53, CADD 25.90, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Y104N (p.Tyr104Asn), rs566714157, ClinGen CA3984419, ClinVar RCV002560452, ClinVar RCV005505304, REVEL 0.45, CADD 26.30, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- F106S (p.Phe106Ser), TOPMed rs1781229905, REVEL 0.40, CADD 27.90
- F107V (p.Phe107Val), gnomAD rs1274682178, Uncertain significance, Cardiovascular phenotype
- S108F (p.Ser108Phe), Ensembl rs1583224652, REVEL 0.32, CADD 26.90
- S108T (p.Ser108Thr), Ensembl rs1781229542
- L109* (p.Leu109Ter), NCI-TCGA Cosmic COSV6213, cosmic curated COSV62131, Variant assessed as somatic; high impact.
- S111P (p.Ser111Pro), TOPMed rs1452158838, REVEL 0.36, CADD 24.80
- D112N (p.Asp112Asn), cosmic curated COSV62132, TOPMed rs1781229159, REVEL 0.43, CADD 23.20
- D112V (p.Asp112Val), rs772376488, ClinGen CA3984416, ClinVar RCV002324333, ClinVar RCV002507047, REVEL 0.78, CADD 24.60, Uncertain significance, not provided; Catecholaminergic polymorphic ventricular tachycardia 1; Catechola
- I113M (p.Ile113Met), TOPMed rs1781228397, gnomAD rs1781228397, Likely benign
- I113V (p.Ile113Val), gnomAD rs1781228554, REVEL 0.18, CADD 22.90
- S115L (p.Ser115Leu), rs2534485147, ClinGen CA365568743, ClinVar RCV002457185, REVEL 0.28, CADD 24.70, Uncertain significance, Cardiovascular phenotype
- S116F (p.Ser116Phe), TOPMed rs1781227703, REVEL 0.29, CADD 24.50
- S116P (p.Ser116Pro), rs768047321, ClinGen CA147297278, ClinVar RCV002456521, ClinVar RCV002547497, REVEL 0.17, CADD 24.30, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- S116T (p.Ser116Thr), rs768047321, ClinGen CA365568741, ClinVar RCV002567882, TOPMed rs768047321, REVEL 0.18, CADD 22.20, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- D118E (p.Asp118Glu), gnomAD rs1277752945, REVEL 0.09, CADD 1.37
- D118Y (p.Asp118Tyr), rs762075230, ClinGen CA3984414, ClinVar RCV002454301, ClinVar RCV002550435, REVEL 0.26, CADD 18.00, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- E119D (p.Glu119Asp), ExAC rs771006430, gnomAD rs771006430, REVEL 0.12, CADD 1.05
- E119G (p.Glu119Gly), rs2114436566, ClinGen CA365568718, ClinVar RCV002573389, Ensembl rs2114436566, REVEL 0.20, CADD 22.70, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- E119K (p.Glu119Lys), rs981200594, ClinGen CA147297274, cosmic curated COSV62116, ClinVar RCV002339774, REVEL 0.19, CADD 22.50, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- E120D (p.Glu120Asp), rs1433101332, ClinGen CA365568709, ClinVar RCV003154023, TOPMed rs1433101332, REVEL 0.03, CADD 7.64, Conflicting interpretations, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
Public TRDN analysis runs
- TRDN analysis run — TRDN (1,235 variants) — completed 2026-08-18