RYR2 (Ryanodine receptor 2) variants and mutations
RYR2 (also known as Ryanodine receptor 2) is a human protein-coding gene encoding a ryanodine receptor 2 protein. It releases calcium from the cardiac sarcoplasmic reticulum in response to trigger calcium entering during each action potential, thereby initiating contraction. Pathogenic variants can destabilize calcium release and are a major cause of catecholaminergic polymorphic ventricular tachycardia. This analysis covers 7,795 RYR2 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes catecholaminergic polymorphic ventricular tachycardia 1, catecholaminergic polymorphic ventricular tachycardia, and ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici. Example RYR2 variants include M1T, A2S, and A2P.
Variant analysis overview
- Gene: RYR2
- Protein: Ryanodine receptor 2
- UniProt accession: Q92736
- Organism: Homo sapiens
- Variants analyzed: 7795
- Variant scope: all variants
- Completed: 2026-08-09
Variant and mutation evidence
- Variant composition: 7,584 unspecified-consequence records; 121 missense variants; 64 synonymous variants; 12 frameshift variants; 9 stop-gained variants; 5 splice-region variants
- Prediction scores: 6,410 variants have prediction scores (82% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: catecholaminergic polymorphic ventricular tachycardia 1, catecholaminergic polymorphic ventricular tachycardia, ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici, Arrhythmogenic right ventricular dysplasia, Abnormality of the cardiovascular system, cardiomyopathy, Prolonged QT interval, arrhythmogenic right ventricular cardiomyopathy, Abnormality of the skeletal system, diverticular disease, Familial progressive cardiac conduction defect, smoking initiation.
Protein structure and variant hotspots
- Protein features: 6 transmembrane segments; 8 domains; 10 post-translational modification sites.
- Structural context: 1,578 variants have structural context.
- PTM context: 14 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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable RYR2 variants
Examples include M1T, A2S, A2P, A2T, A2D, A2V, A2G, A2A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs1453040850, ClinGen CA345654137, ClinVar RCV002300913, MetaLR 0.77, MetaSVM 0.41, Uncertain significance, not provided
- A2S (p.Ala2Ser), rs1660032942, ClinGen CA345654143, ClinVar RCV001178425, Ensembl rs1660032942, REVEL 0.30, MetaLR 0.80, Uncertain significance
- A2P (p.Ala2Pro), gnomAD 1-237042525-G-C, REVEL 0.64, MetaLR 0.86
- A2T (p.Ala2Thr), gnomAD 1-237042525-G-A, REVEL 0.30, MetaLR 0.77
- A2D (p.Ala2Asp), gnomAD 1-237042526-C-A, REVEL 0.52, MetaLR 0.84
- A2V (p.Ala2Val), gnomAD 1-237042526-C-T, REVEL 0.45, MetaLR 0.83
- A2G (p.Ala2Gly), gnomAD 1-237042526-C-G, REVEL 0.30, MetaLR 0.70
- A2A (p.Ala2Ala), gnomAD 1-237042527-C-T, CADD 13.70
- D3E (p.Asp3Glu), rs2527003204, ClinGen CA345654155, ClinVar RCV004016509, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia
- D3N (p.Asp3Asn), TOPMed rs1182886482, REVEL 0.34, MetaLR 0.78
- D3V (p.Asp3Val), rs2527003162, ClinGen CA345654153, ClinVar RCV004014630, REVEL 0.42, MetaLR 0.77, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia
- D3Y (p.Asp3Tyr), gnomAD 1-237042528-G-T, REVEL 0.49, MetaLR 0.75
- D3G (p.Asp3Gly), gnomAD 1-237042529-A-G, REVEL 0.42, MetaLR 0.77
- D3D (p.Asp3Asp), gnomAD 1-237042530-T-C, CADD 14.50
- G4A (p.Gly4Ala), rs866878858, ClinGen CA345654160, ClinVar RCV002528357, ClinVar RCV003999089, REVEL 0.17, MetaLR 0.73, Likely benign
- G4R (p.Gly4Arg), rs2527003251, ClinGen CA345654157, ClinVar RCV004011834, REVEL 0.39, MetaLR 0.79, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia
- G4V (p.Gly4Val), rs866878858, ClinGen CA39930528, ClinVar RCV002560562, ClinVar RCV003365574, REVEL 0.28, MetaLR 0.80, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- G4W (p.Gly4Trp), gnomAD 1-237042531-G-T, REVEL 0.61, MetaLR 0.88
- G4E (p.Gly4Glu), gnomAD 1-237042532-G-A, REVEL 0.31, MetaLR 0.77
- G4G (p.Gly4Gly), gnomAD 1-237042533-G-A, CADD 14.30
- G5C (p.Gly5Cys), rs2148061465, ClinGen CA345654163, ClinVar RCV001804573, ClinVar RCV002388675, REVEL 0.70, MetaLR 0.86, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- G5D (p.Gly5Asp), rs1660034518, ClinGen CA345654164, ClinVar RCV001777083, ClinVar RCV002388663, REVEL 0.61, MetaLR 0.81, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- G5A (p.Gly5Ala), gnomAD 1-237042530-TG-T, CADD 24.80
- G5S (p.Gly5Ser), gnomAD 1-237042534-G-A, REVEL 0.48, MetaLR 0.82
- G5V (p.Gly5Val), gnomAD 1-237042535-G-T, REVEL 0.52, MetaLR 0.86
- G5G (p.Gly5Gly), gnomAD 1-237042536-C-G, CADD 14.60
- E6* (p.Glu6Ter), TOPMed rs1367258371, gnomAD rs1367258371, CADD 37.00
- E6D (p.Glu6Asp), TOPMed rs994965204, REVEL 0.34, MetaLR 0.73
- E6G (p.Glu6Gly), TOPMed rs1272308393, gnomAD rs1272308393, REVEL 0.31, MetaLR 0.69, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia
- E6K (p.Glu6Lys), rs1367258371, TOPMed rs1367258371, gnomAD rs1367258371, REVEL 0.27, MetaLR 0.77, Uncertain significance, Cardiomyopathy
- E6R (p.Glu6Arg), gnomAD 1-237042530-T-TG, CADD 25.70
- E6V (p.Glu6Val), gnomAD 1-237042538-A-T, REVEL 0.37, MetaLR 0.80
- E6E (p.Glu6Glu), gnomAD 1-237042539-G-A, CADD 12.40
- G7D (p.Gly7Asp), rs1660036173, ClinGen CA345654178, ClinVar RCV004010038, ClinVar RCV004588530, REVEL 0.60, MetaLR 0.80, Uncertain significance, not provided; Catecholaminergic polymorphic ventricular tachycardia
- G7S (p.Gly7Ser), rs779910353, ClinGen CA008658, ClinVar RCV000182770, ClinVar RCV001184236, REVEL 0.53, MetaLR 0.80, Likely benign
- G7A (p.Gly7Ala), gnomAD 1-237042538-AG-A, CADD 24.50
- G7C (p.Gly7Cys), gnomAD 1-237042540-G-T, REVEL 0.71, MetaLR 0.91
- G7V (p.Gly7Val), gnomAD 1-237042541-G-T, REVEL 0.65, MetaLR 0.84
- G7G (p.Gly7Gly), gnomAD 1-237042542-C-T, CADD 14.40
- E8* (p.Glu8Ter), gnomAD 1-237042543-G-T, CADD 37.00
- E8K (p.Glu8Lys), gnomAD 1-237042543-G-A, REVEL 0.46, MetaLR 0.79
- E8G (p.Glu8Gly), gnomAD 1-237042544-A-G, REVEL 0.58, MetaLR 0.86
- E8E (p.Glu8Glu), gnomAD 1-237042545-A-G, CADD 13.80
- D9Y (p.Asp9Tyr), gnomAD 1-237042546-G-T, REVEL 0.76, MetaLR 0.86
- D9V (p.Asp9Val), gnomAD 1-237042547-A-T, REVEL 0.81, MetaLR 0.88
- D9G (p.Asp9Gly), gnomAD 1-237042547-A-G, REVEL 0.67, MetaLR 0.86
- D9E (p.Asp9Glu), gnomAD 1-237042548-C-A, REVEL 0.38, MetaLR 0.63
- D9D (p.Asp9Asp), gnomAD 1-237042548-C-T, CADD 8.78
- E10* (p.Glu10Ter), rs2148061633, ClinGen CA345654197, ClinVar RCV002224709, Ensembl rs2148061633, CADD 38.00, Likely pathogenic
- E10A (p.Glu10Ala), rs1027423344, ClinGen CA39930531, ClinVar RCV002608058, ClinVar RCV003365634, AlphaMissense 0.65, MetaLR 0.88, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- E10G (p.Glu10Gly), TOPMed rs1027423344, REVEL 0.55, AlphaMissense 0.65, Uncertain significance
- E10Q (p.Glu10Gln), gnomAD 1-237042549-G-C, REVEL 0.61, MetaLR 0.92
- E10K (p.Glu10Lys), gnomAD 1-237042549-G-A, REVEL 0.60, MetaLR 0.89
- E10V (p.Glu10Val), gnomAD 1-237042550-A-T, REVEL 0.48, MetaLR 0.86
- E10D (p.Glu10Asp), gnomAD 1-237042551-G-C, REVEL 0.42, MetaLR 0.80
- E10E (p.Glu10Glu), gnomAD 1-237042551-G-A, CADD 13.10
- I11F (p.Ile11Phe), Ensembl rs1572423240, REVEL 0.75, MetaLR 0.91
- I11T (p.Ile11Thr), rs794728760, ClinGen CA009182, ClinVar RCV000182771, ClinVar RCV000621404, REVEL 0.55, MetaLR 0.88, Uncertain significance
- I11V (p.Ile11Val), gnomAD 1-237042552-A-G, REVEL 0.34, MetaLR 0.70
- I11N (p.Ile11Asn), gnomAD 1-237042553-T-A, REVEL 0.61, MetaLR 0.88
- I11I (p.Ile11Ile), gnomAD 1-237042554-C-A, CADD 13.70
- Q12H (p.Gln12His), rs746811389, ClinGen CA086434, ClinVar RCV000773022, ClinVar RCV002343256, REVEL 0.76, MetaLR 0.91, Uncertain significance
- Q12E (p.Gln12Glu), gnomAD 1-237042555-C-G, REVEL 0.56, MetaLR 0.89
- Q12K (p.Gln12Lys), gnomAD 1-237042555-C-A, REVEL 0.53, MetaLR 0.86
- Q12* (p.Gln12Ter), gnomAD 1-237042555-C-T, CADD 38.00
- Q12R (p.Gln12Arg), gnomAD 1-237042556-A-G, REVEL 0.51, MetaLR 0.86
- Q12P (p.Gln12Pro), gnomAD 1-237042556-A-C, REVEL 0.74, MetaLR 0.87
- Q12L (p.Gln12Leu), gnomAD 1-237042556-A-T, REVEL 0.49, MetaLR 0.82
- Q12Q (p.Gln12Gln), gnomAD 1-237042557-G-A, CADD 11.50
- F13C (p.Phe13Cys), rs878854155, ClinGen CA10581771, ClinVar RCV002518316, Ensembl rs878854155, AlphaMissense 1.00, MetaLR 0.91, Uncertain significance
- F13L (p.Phe13Leu), rs1660038687, ClinGen CA345654219, ClinVar RCV001508968, ClinVar RCV002544636, REVEL 0.69, MetaLR 0.89, Likely pathogenic
- F13S (p.Phe13Ser), gnomAD 1-237042557-GT-G, CADD 26.50
- F13F (p.Phe13Phe), gnomAD 1-237042560-C-T, CADD 13.90
- L14P (p.Leu14Pro), rs886043844, ClinGen CA10606020, ClinVar RCV000296459, ClinVar RCV003103988, REVEL 0.90, MetaLR 0.96, Likely pathogenic
- L14M (p.Leu14Met), gnomAD 1-237042561-C-A, REVEL 0.66, MetaLR 0.95
- L14L (p.Leu14Leu), rs878854156, gnomAD 1-237042561-C-T, CADD 11.00
- L14Q (p.Leu14Gln), gnomAD 1-237042562-T-A, REVEL 0.92, MetaLR 0.97
- R15* (p.Arg15Ter), TOPMed rs868468826, gnomAD rs868468826, CADD 35.00, Likely benign
- R15L (p.Arg15Leu), Ensembl rs865784613, REVEL 0.63, MetaLR 0.90, Likely pathogenic
- R15P (p.Arg15Pro), rs865784613, ClinGen CA345654226, ClinVar RCV002527816, Ensembl rs865784613, REVEL 0.81, MetaLR 0.92, Likely pathogenic
- R15Q (p.Arg15Gln), NCI-TCGA TCGA novel, REVEL 0.55, MetaLR 0.91, Variant assessed as somatic; moderate impact.
- R15R (p.Arg15Arg), rs868468826, gnomAD 1-237042564-C-A, CADD 10.60
- R15G (p.Arg15Gly), gnomAD 1-237042564-C-G, REVEL 0.63, MetaLR 0.89
- T16A (p.Thr16Ala), rs1660040720, ClinGen CA345654228, ClinVar RCV001178497, Ensembl rs1660040720, AlphaMissense 0.83, MetaLR 0.88, Uncertain significance
- T16L (p.Thr16Leu), gnomAD 1-237042565-GA-G, CADD 24.20
- T16S (p.Thr16Ser), gnomAD 1-237042567-A-T, REVEL 0.46, MetaLR 0.86
- T16N (p.Thr16Asn), gnomAD 1-237042568-C-A, REVEL 0.49, MetaLR 0.89
- T16I (p.Thr16Ile), gnomAD 1-237042568-C-T, REVEL 0.40, MetaLR 0.83
- T16T (p.Thr16Thr), gnomAD 1-237042569-T-A, CADD 16.50
- D17G (p.Asp17Gly), rs1689570949, ClinGen CA345654258, ClinVar RCV002647554, TOPMed rs1689570949, AlphaMissense 0.14, MetaLR 0.74, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- D17N (p.Asp17Asn), rs370488091, ClinGen CA086815, ClinVar RCV001776981, ClinVar RCV004009048, REVEL 0.68, MetaLR 0.93, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor
- D17Y (p.Asp17Tyr), rs370488091, ClinGen CA345654255, ClinVar RCV000852412, ESP rs370488091, REVEL 0.89, MetaLR 0.87, Uncertain significance
- D17D (p.Asp17Asp), rs373674802, gnomAD 1-237270499-T-C, CADD 8.67
- D18V (p.Asp18Val), Ensembl rs1689571472, MetaLR 0.91, MetaSVM 0.97
- D18Y (p.Asp18Tyr), gnomAD 1-237270500-G-T, REVEL 0.97, MetaLR 0.92
- D18N (p.Asp18Asn), gnomAD 1-237270500-G-A, REVEL 0.86, MetaLR 0.92
- E19K (p.Glu19Lys), NCI-TCGA TCGA novel, MetaLR 0.88, MetaSVM 0.92, Variant assessed as somatic; moderate impact.
- E19* (p.Glu19Ter), gnomAD 1-237270503-G-T, CADD 40.00
- V20A (p.Val20Ala), gnomAD 1-237270507-T-C, REVEL 0.91, MetaLR 0.92
- V20V (p.Val20Val), gnomAD 1-237270508-G-T, CADD 8.41
- V21I (p.Val21Ile), gnomAD 1-237270509-G-A, REVEL 0.64, MetaLR 0.28
- V21F (p.Val21Phe), gnomAD 1-237270509-G-T, REVEL 0.84, MetaLR 0.90
- V21D (p.Val21Asp), gnomAD 1-237270510-T-A, REVEL 0.87, MetaLR 0.91
- L22M (p.Leu22Met), gnomAD 1-237270512-C-A, REVEL 0.75, MetaLR 0.97
- L22L (p.Leu22Leu), gnomAD 1-237270512-C-T, CADD 10.90
- L22P (p.Leu22Pro), gnomAD 1-237270513-T-C, REVEL 0.96, MetaLR 0.98
- Q23* (p.Gln23Ter), NCI-TCGA TCGA novel, CADD 40.00, Variant assessed as somatic; high impact.
- Q23R (p.Gln23Arg), gnomAD rs1201196496, REVEL 0.80, MetaLR 0.91
- Q23K (p.Gln23Lys), gnomAD 1-237270515-C-A, REVEL 0.75, MetaLR 0.92
- Q23L (p.Gln23Leu), gnomAD 1-237270516-A-T, REVEL 0.71, MetaLR 0.93
- Q23H (p.Gln23His), gnomAD 1-237270517-G-T, REVEL 0.84, MetaLR 0.91
- Q23Q (p.Gln23Gln), gnomAD 1-237270517-G-A, CADD 9.58
- C24F (p.Cys24Phe), TOPMed rs1487597802, REVEL 0.93, MetaLR 0.97, Uncertain significance
- C24G (p.Cys24Gly), rs1266360671, ClinGen CA345654302, ClinVar RCV002224356, ClinVar RCV003308065, REVEL 0.93, MetaLR 0.93, Uncertain significance, not provided; Cardiovascular phenotype
- C24R (p.Cys24Arg), cosmic curated COSV10592, gnomAD rs1266360671, REVEL 0.94, MetaLR 0.96, Uncertain significance
- C24S (p.Cys24Ser), NCI-TCGA TCGA novel, MetaLR 0.87, MetaSVM 0.17, Variant assessed as somatic; moderate impact.
- C24Y (p.Cys24Tyr), rs1487597802, ClinGen CA345654305, ClinVar RCV001191001, TOPMed rs1487597802, REVEL 0.93, MetaLR 0.97, Uncertain significance
- C24C (p.Cys24Cys), gnomAD 1-237270520-C-T, CADD 4.05
- C24* (p.Cys24Ter), gnomAD 1-237270520-C-A, CADD 28.00
- T25N (p.Thr25Asn), gnomAD rs1689573012, REVEL 0.34, MetaLR 0.81, Uncertain significance, Cardiomyopathy
- T25P (p.Thr25Pro), Ensembl rs1572424475, MetaLR 0.87, MetaSVM 0.88
- T25A (p.Thr25Ala), gnomAD 1-237270521-A-G, REVEL 0.41, MetaLR 0.85
- T25I (p.Thr25Ile), gnomAD 1-237270522-C-T, REVEL 0.50, MetaLR 0.78
- T25T (p.Thr25Thr), gnomAD 1-237270523-C-A, CADD 0.62
- A26T (p.Ala26Thr), rs368974917, ClinGen CA087454, cosmic curated COSV10076, ClinVar RCV001187691, REVEL 0.72, MetaLR 0.94, Uncertain significance
- A26S (p.Ala26Ser), gnomAD 1-237270524-G-T, REVEL 0.67, MetaLR 0.94
- A26E (p.Ala26Glu), gnomAD 1-237270525-C-A, REVEL 0.80, MetaLR 0.88
- A26V (p.Ala26Val), gnomAD 1-237270525-C-T, REVEL 0.71, MetaLR 0.35
- A26A (p.Ala26Ala), gnomAD 1-237270526-A-C, CADD 2.29
- T27A (p.Thr27Ala), gnomAD rs1409511801, REVEL 0.68, MetaLR 0.88, Uncertain significance, Cardiomyopathy
- T27P (p.Thr27Pro), gnomAD rs1409511801, MetaLR 0.93, MetaSVM 1.03
- T27S (p.Thr27Ser), rs1399536009, ClinGen CA345654325, ClinVar RCV002418665, ClinVar RCV002484075, REVEL 0.56, MetaLR 0.82, Uncertain significance
- T27N (p.Thr27Asn), gnomAD 1-237270528-C-A, REVEL 0.61, MetaLR 0.90
- T27I (p.Thr27Ile), gnomAD 1-237270528-C-T, REVEL 0.85, MetaLR 0.95
- T27T (p.Thr27Thr), gnomAD 1-237270529-C-A, CADD 7.39
- I28M (p.Ile28Met), rs1444362826, ClinGen CA345654332, ClinVar RCV003877008, TOPMed rs1444362826, AlphaMissense 0.08, MetaLR 0.86, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- I28V (p.Ile28Val), gnomAD 1-237270530-A-G, REVEL 0.29, MetaLR 0.73
- I28T (p.Ile28Thr), gnomAD 1-237270531-T-C, REVEL 0.49, MetaLR 0.87
- I28I (p.Ile28Ile), rs1444362826, gnomAD 1-237270532-C-A, AlphaMissense 0.08, MetaLR 0.86
- H29D (p.His29Asp), UniProt VAR 075283, MetaLR 0.87, MetaSVM 0.87, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- H29R (p.His29Arg), rs780931894, ClinGen CA087703, ClinVar RCV003532815, ExAC rs780931894, REVEL 0.58, MetaLR 0.70, Uncertain significance, Cardiomyopathy
- H29N (p.His29Asn), gnomAD 1-237270533-C-A, REVEL 0.53, MetaLR 0.81
- H29Y (p.His29Tyr), gnomAD 1-237270533-C-T, REVEL 0.67, MetaLR 0.89
- H29Q (p.His29Gln), gnomAD 1-237270535-C-A, REVEL 0.45, MetaLR 0.73
- H29H (p.His29His), gnomAD 1-237270535-C-T, CADD 8.78
- K30K (p.Lys30Lys), rs1366634657, gnomAD 1-237270538-A-G, CADD 8.90
- E31K (p.Glu31Lys), gnomAD 1-237270539-G-A, REVEL 0.72, MetaLR 0.89
- E31* (p.Glu31Ter), gnomAD 1-237270539-G-T, CADD 39.00
- E31E (p.Glu31Glu), rs1689575870, gnomAD 1-237270541-A-G, CADD 1.23
- Q32K (p.Gln32Lys), rs1553373926, ClinGen CA345654356, ClinVar RCV001089524, ClinVar RCV002377396, REVEL 0.50, MetaLR 0.83, Uncertain significance
- Q32P (p.Gln32Pro), rs909314611, ClinGen CA39988656, ClinVar RCV001189530, ClinVar RCV002560940, REVEL 0.68, MetaLR 0.83, Uncertain significance
- Q32R (p.Gln32Arg), gnomAD 1-237270543-A-G, REVEL 0.55, MetaLR 0.83
- Q32Q (p.Gln32Gln), rs1057524453, gnomAD 1-237270544-A-G, CADD 3.59
- Q32H (p.Gln32His), gnomAD 1-237270544-A-T, REVEL 0.31, MetaLR 0.74
- Q33* (p.Gln33Ter), gnomAD 1-237270545-C-T, CADD 37.00
- Q33R (p.Gln33Arg), gnomAD 1-237270546-A-G, REVEL 0.50, MetaLR 0.64
- Q33H (p.Gln33His), gnomAD 1-237270547-G-C, REVEL 0.63, MetaLR 0.79
- K34E (p.Lys34Glu), rs876661385, ClinGen CA345654371, ClinVar RCV002547040, Ensembl rs876661385, AlphaMissense 0.74, MetaLR 0.85, Uncertain significance
- K34N (p.Lys34Asn), rs1689577197, ClinGen CA345654377, ClinVar RCV003639747, REVEL 0.40, MetaLR 0.87, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- K34Q (p.Lys34Gln), rs876661385, ClinGen CA10581131, ClinVar RCV000223862, Ensembl rs876661385, AlphaMissense 0.74, MetaLR 0.85, Uncertain significance
- K34R (p.Lys34Arg), gnomAD 1-237270549-A-G, REVEL 0.60, MetaLR 0.85
- L35Q (p.Leu35Gln), TOPMed rs1336134919, gnomAD rs1336134919, REVEL 0.81, MetaLR 0.80
- L35V (p.Leu35Val), rs1689577425, ClinGen CA345654379, ClinVar RCV002393232, ClinVar RCV002552597, AlphaMissense 0.11, MetaLR 0.65, Uncertain significance
- L35I (p.Leu35Ile), gnomAD 1-237270551-C-A, REVEL 0.34, MetaLR 0.65
- L35L (p.Leu35Leu), gnomAD 1-237270551-C-T, CADD 8.13
- C36R (p.Cys36Arg), gnomAD 1-237270554-T-C, REVEL 0.95, MetaLR 0.95
- C36S (p.Cys36Ser), gnomAD 1-237270554-T-A, REVEL 0.89, MetaLR 0.26
- C36F (p.Cys36Phe), gnomAD 1-237270555-G-T, REVEL 0.84, MetaLR 0.95
- C36C (p.Cys36Cys), rs1322583844, gnomAD 1-237270556-C-T, CADD 3.29
- C36* (p.Cys36Ter), gnomAD 1-237270556-C-A, CADD 26.10
- L37S (p.Leu37Ser), rs1689578487, ClinGen CA345654395, ClinVar RCV001188756, Ensembl rs1689578487, AlphaMissense 0.98, MetaLR 0.92, Uncertain significance
- L37V (p.Leu37Val), gnomAD rs1426967066, REVEL 0.66, MetaLR 0.93
- L37F (p.Leu37Phe), gnomAD 1-237270559-G-T, REVEL 0.86, MetaLR 0.89
- L37L (p.Leu37Leu), gnomAD 1-237270559-G-A, CADD 10.50
- A38E (p.Ala38Glu), rs1689579128, ClinGen CA345654400, ClinVar RCV002550176, Ensembl rs1689579128, REVEL 0.89, MetaLR 0.87, Uncertain significance
- A38G (p.Ala38Gly), Ensembl rs1689579128, MetaLR 0.83, MetaSVM 0.65, Uncertain significance
- A38S (p.Ala38Ser), rs747977592, ClinGen CA084893, ClinVar RCV001187023, ClinVar RCV005394794, REVEL 0.76, MetaLR 0.87, Uncertain significance
- A38T (p.Ala38Thr), rs747977592, ClinGen CA345654398, ClinVar RCV001177903, ClinVar RCV002325509, REVEL 0.86, MetaLR 0.30, Uncertain significance
- A38V (p.Ala38Val), gnomAD 1-237270561-C-T, REVEL 0.84, MetaLR 0.28
- A39S (p.Ala39Ser), gnomAD 1-237270563-G-T, REVEL 0.83, MetaLR 0.91
Public RYR2 analysis runs
- RYR2 analysis run — RYR2 (7,795 variants) — completed 2026-08-09