CASQ2 (Calsequestrin-2) variants and mutations
CASQ2 (also known as Calsequestrin-2) is a human protein-coding gene encoding a calsequestrin-2 protein. It buffers calcium inside the cardiac sarcoplasmic reticulum and helps regulate calcium release through RYR2 during each heartbeat. Biallelic and some dominant pathogenic variants cause catecholaminergic polymorphic ventricular tachycardia by destabilizing intracellular calcium handling. This analysis covers 760 CASQ2 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia 1, and Abnormality of the cardiovascular system. Example CASQ2 variants include M1?, M1I, and M1T.
Variant analysis overview
- Gene: CASQ2
- Protein: Calsequestrin-2
- UniProt accession: O14958
- Organism: Homo sapiens
- Variants analyzed: 760
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 569 unspecified-consequence records; 6 in-frame insertions; 14 in-frame deletions; 72 synonymous variants; 76 missense variants; 16 frameshift variants; 5 splice-region variants; 1 stop-gained variants; 1 substitution
- Prediction scores: 624 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, catecholaminergic polymorphic ventricular tachycardia 1, Abnormality of the cardiovascular system, atrial fibrillation, atrial flutter, neurodegenerative disease, Prolonged QT interval, protozoa infectious disease, skin disorder, Wolff-Parkinson-White syndrome, injury, sensory perception of smell.
Protein structure and variant hotspots
- Protein features: 4 post-translational modification sites.
- PTM context: 11 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, ClinGen, MaveDB, LitVar.
Notable CASQ2 variants
Examples include M1?, M1I, M1T, K2E, K2N, K2R, R3I, R3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5477, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs1334439048, ClinGen CA341767474, ClinVar RCV003639703, MetaLR 0.50, MetaSVM 0.01, Pathogenic, Catecholaminergic polymorphic ventricular tachycardia 1
- M1T (p.Met1Thr), rs1553197939, ClinGen CA341767476, ClinVar RCV000523914, ClinVar RCV001796094, MetaLR 0.46, MetaSVM 0.01, Pathogenic/Likely pathogenic, not provided; Catecholaminergic polymorphic ventricular tachycardia 1
- K2E (p.Lys2Glu), rs1649207484, ClinGen CA341767470, ClinVar RCV003358168, TOPMed rs1649207484, REVEL 0.16, MetaLR 0.17, Uncertain significance, Cardiovascular phenotype
- K2N (p.Lys2Asn), Ensembl rs911355175
- K2R (p.Lys2Arg), rs1649207434, ClinGen CA341767467, ClinVar RCV001170447, Ensembl rs1649207434, AlphaMissense 0.07, MetaLR 0.17, Uncertain significance, Cardiomyopathy
- R3I (p.Arg3Ile), rs780771730, NCI-TCGA Cosmic COSV5476, ExAC rs780771730, TOPMed rs780771730, REVEL 0.16, MetaLR 0.10, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- R3T (p.Arg3Thr), ExAC rs780771730, TOPMed rs780771730, gnomAD rs780771730, REVEL 0.13, MetaLR 0.07
- T4A (p.Thr4Ala), TOPMed rs747077051, gnomAD rs747077051, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- T4I (p.Thr4Ile), rs200558909, ClinGen CA236677, ClinVar RCV000171635, ExAC rs200558909, REVEL 0.07, MetaLR 0.08, Uncertain significance, not provided
- T4S (p.Thr4Ser), rs747077051, ClinGen CA301916, ClinVar RCV000170897, TOPMed rs747077051, REVEL 0.08, MetaLR 0.08, Uncertain significance, not provided
- H5D (p.His5Asp), rs1649206958, ClinGen CA341767452, ClinVar RCV001757860, Ensembl rs1649206958, REVEL 0.33, MetaLR 0.09, Uncertain significance, not provided
- H5N (p.His5Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H5Q (p.His5Gln), ExAC rs763716152, TOPMed rs763716152, gnomAD rs763716152, REVEL 0.24, MetaLR 0.09, Likely benign
- H5R (p.His5Arg), Ensembl rs1649206902, REVEL 0.19, MetaLR 0.09
- L6F (p.Leu6Phe), ExAC rs762622231, gnomAD rs762622231, REVEL 0.53, MetaLR 0.37
- L6M (p.Leu6Met), rs2526106734, ClinGen CA341767446, ClinVar RCV004299656, REVEL 0.39, MetaLR 0.45, Uncertain significance, Cardiovascular phenotype
- F7L (p.Phe7Leu), rs727502911, ClinGen CA175384, ClinVar RCV000150232, ClinVar RCV005791818, REVEL 0.13, MetaLR 0.03, Likely benign, Cardiovascular phenotype; not specified
- I8T (p.Ile8Thr), rs1553197935, ClinGen CA341767430, ClinVar RCV002526099, Ensembl rs1553197935, REVEL 0.30, MetaLR 0.17, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- I8V (p.Ile8Val), rs1649206559, ClinGen CA341767432, ClinVar RCV002557784, TOPMed rs1649206559, REVEL 0.08, MetaLR 0.06, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- V9L (p.Val9Leu), rs2526106708, ClinVar RCV004592010, Uncertain significance, not provided
- V9M (p.Val9Met), NCI-TCGA Cosmic COSV5477, Variant assessed as somatic; moderate impact.
- G10E (p.Gly10Glu), NCI-TCGA Cosmic COSV5477, Variant assessed as somatic; moderate impact.
- G10W (p.Gly10Trp), gnomAD rs1224922092, REVEL 0.34, MetaLR 0.35
- I11F (p.Ile11Phe), rs2101130741, ClinGen CA341767414, ClinVar RCV002324262, ClinVar RCV002551082, REVEL 0.15, MetaLR 0.05, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Y12N (p.Tyr12Asn), rs752330104, ClinGen CA301919, ClinVar RCV000170898, ClinVar RCV003525868, AlphaMissense 0.09, MetaLR 0.15, Uncertain significance, not provided; Catecholaminergic polymorphic ventricular tachycardia 1
- F13S (p.Phe13Ser), rs2526106667, ClinGen CA341767396, ClinVar RCV002366406, REVEL 0.25, MetaLR 0.18, Uncertain significance, Cardiovascular phenotype
- S15C (p.Ser15Cys), rs185539994, ClinGen CA29625239, ClinVar RCV002331377, ClinVar RCV003107868, REVEL 0.17, MetaLR 0.22, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- S16C (p.Ser16Cys), NCI-TCGA Cosmic COSV9979, Variant assessed as somatic; moderate impact.
- R18K (p.Arg18Lys), NCI-TCGA Cosmic COSV5477, Variant assessed as somatic; moderate impact.
- A19T (p.Ala19Thr), Ensembl rs1649205930, REVEL 0.25, MetaLR 0.17
- A19V (p.Ala19Val), gnomAD rs1461396877
- E20* (p.Glu20Ter), rs2101130710, ClinGen CA341767353, ClinVar RCV002224481, Ensembl rs2101130710, Uncertain significance
- E20D (p.Glu20Asp), TOPMed rs1649205795, REVEL 0.48, MetaLR 0.37
- E21K (p.Glu21Lys), rs1397786003, ClinGen CA341767346, ClinVar RCV003368082, TOPMed rs1397786003, REVEL 0.24, MetaLR 0.13, Uncertain significance, Cardiovascular phenotype
- G22A (p.Gly22Ala), ESP rs140238747, ExAC rs140238747, gnomAD rs140238747, REVEL 0.74, MetaLR 0.57, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- G22E (p.Gly22Glu), ESP rs140238747, ExAC rs140238747, gnomAD rs140238747
- G22R (p.Gly22Arg), rs759318407, ClinGen CA1024007, ClinVar RCV002364131, ClinVar RCV003098270, REVEL 0.88, MetaLR 0.72, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- P26A (p.Pro26Ala), gnomAD rs1649205411, REVEL 0.72, MetaLR 0.67
- P26L (p.Pro26Leu), ExAC rs760629090, TOPMed rs760629090, gnomAD rs760629090, REVEL 0.92, MetaLR 0.70
- P26S (p.Pro26Ser), NCI-TCGA Cosmic COSV5476, Variant assessed as somatic; moderate impact.
- T27A (p.Thr27Ala), gnomAD rs1455667839, REVEL 0.10, MetaLR 0.13
- T27H (p.Thr27His), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- T27I (p.Thr27Ile), rs773237428, ClinGen CA1024003, ClinVar RCV000825714, ClinVar RCV002415954, REVEL 0.12, MetaLR 0.16, Conflicting interpretations, not specified; not provided; Cardiovascular phenotype
- T27K (p.Thr27Lys), ExAC rs773237428, TOPMed rs773237428, gnomAD rs773237428, REVEL 0.13, MetaLR 0.14, Uncertain significance
- Y28C (p.Tyr28Cys), rs1230753325, ClinGen CA341767299, ClinVar RCV002489651, ClinVar RCV002554403, REVEL 0.69, MetaLR 0.64, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- K31E (p.Lys31Glu), rs1649204915, ClinGen CA341767280, ClinVar RCV002378950, TOPMed rs1649204915, REVEL 0.09, MetaLR 0.03, Uncertain significance, Cardiovascular phenotype
- K31R (p.Lys31Arg), ExAC rs748382465, gnomAD rs748382465, REVEL 0.13, MetaLR 0.07
- D32N (p.Asp32Asn), rs147941846, ClinGen CA301922, ClinVar RCV000170899, Ensembl rs147941846, AlphaMissense 0.27, MetaLR 0.70, Likely pathogenic, not provided
- R33* (p.Arg33Ter), rs397507556, ClinGen CA301925, NCI-TCGA Cosmic COSV5477, ClinVar RCV000033942, CADD 42.00, Pathogenic, in CPVT2
- R33L (p.Arg33Leu), rs749547712, ClinGen CA341767265, ClinVar RCV002561097, ExAC rs749547712, AlphaMissense 0.72, MetaLR 0.69, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- R33Q (p.Arg33Gln), rs749547712, ClinGen CA1023999, NCI-TCGA Cosmic COSV5477, ClinVar RCV002554554, REVEL 0.81, AlphaMissense 0.72, Pathogenic/Likely pathogenic, Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor
- V34G (p.Val34Gly), rs1280686043, ClinGen CA341767261, ClinVar RCV000781194, ClinVar RCV002536870, REVEL 0.81, MetaLR 0.32, Uncertain significance, not specified; Catecholaminergic polymorphic ventricular tachycardia 1; Catechol
- V34M (p.Val34Met), gnomAD rs1338492317, REVEL 0.55, MetaLR 0.36
- V35A (p.Val35Ala), TOPMed rs1649204267, REVEL 0.16, MetaLR 0.14
- V35L (p.Val35Leu), ExAC rs780579529, TOPMed rs780579529, gnomAD rs780579529, REVEL 0.08, MetaLR 0.03, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- S36N (p.Ser36Asn), rs1649204142, ClinGen CA341767250, ClinVar RCV004160251, TOPMed rs1649204142, AlphaMissense 0.07, MetaLR 0.07, Uncertain significance, Cardiovascular phenotype
- L37I (p.Leu37Ile), gnomAD rs1649204089, REVEL 0.13, MetaLR 0.15
- S38F (p.Ser38Phe), NCI-TCGA Cosmic COSV5477, Variant assessed as somatic; moderate impact.
- E39* (p.Glu39Ter), rs756636650, ClinGen CA341767232, ClinVar RCV000579287, ClinVar RCV002529041, AlphaMissense 0.14, MetaLR 0.06, Pathogenic
- E39K (p.Glu39Lys), rs756636650, ClinGen CA301928, ClinVar RCV002967599, ClinVar RCV004068330, REVEL 0.12, AlphaMissense 0.14, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- E39Q (p.Glu39Gln), rs756636650, ClinGen CA341767233, ClinVar RCV003066924, ClinVar RCV003171055, AlphaMissense 0.14, MetaLR 0.06, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- K40E (p.Lys40Glu), rs786205797, ClinGen CA301942, ClinVar RCV000170912, ClinVar RCV000496259, REVEL 0.55, MetaLR 0.52, Uncertain significance, Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- F42I (p.Phe42Ile), TOPMed rs1649203256, gnomAD rs1649203256, REVEL 0.17, MetaLR 0.05
- F42S (p.Phe42Ser), gnomAD rs1446792848, REVEL 0.27, MetaLR 0.08
- K43R (p.Lys43Arg), rs1163471411, ClinGen CA341767199, ClinVar RCV002552134, TOPMed rs1163471411, REVEL 0.31, MetaLR 0.20, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- V45F (p.Val45Phe), rs746405346, ClinGen CA1023997, ClinVar RCV002571267, ClinVar RCV005308635, REVEL 0.25, MetaLR 0.09, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- V45I (p.Val45Ile), rs746405346, ClinGen CA341767187, ClinVar RCV002387676, ExAC rs746405346, REVEL 0.18, MetaLR 0.08, Likely benign, Cardiovascular phenotype
- K47N (p.Lys47Asn), rs1553197917, ClinGen CA341767168, ClinVar RCV000625057, ClinVar RCV001700264, REVEL 0.67, MetaLR 0.56, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- K48E (p.Lys48Glu), Ensembl rs1649202878
- K48N (p.Lys48Asn), ExAC rs777384250, gnomAD rs777384250, REVEL 0.39, MetaLR 0.27, Likely benign, Cardiovascular phenotype
- Y49C (p.Tyr49Cys), rs1649202700, ClinGen CA341767157, ClinVar RCV002639717, ClinVar RCV005794380, REVEL 0.68, MetaLR 0.57, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Y49H (p.Tyr49His), ExAC rs757893573, gnomAD rs757893573, REVEL 0.37, MetaLR 0.20
- D50N (p.Asp50Asn), TOPMed rs1396184953, gnomAD rs1396184953, REVEL 0.14, MetaLR 0.23, Likely benign, Cardiovascular phenotype
- L51F (p.Leu51Phe), TOPMed rs1170202728, REVEL 0.28, MetaLR 0.37
- L52F (p.Leu52Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C53F (p.Cys53Phe), rs151168851, ClinGen CA29625172, ClinVar RCV001759739, ClinVar RCV002400235, REVEL 0.41, AlphaMissense 0.91, Uncertain significance, not provided; Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovas
- C53Y (p.Cys53Tyr), rs151168851, ClinGen CA341767129, ClinVar RCV002557885, ESP rs151168851, AlphaMissense 0.91, MetaLR 0.24, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- Y55C (p.Tyr55Cys), rs1436844070, ClinGen CA341767114, ClinVar RCV000497364, ClinVar RCV000618128, REVEL 0.30, MetaLR 0.12, Pathogenic/Likely pathogenic, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- H57R (p.His57Arg), Ensembl rs1649202216, REVEL 0.85, MetaLR 0.60
- E58K (p.Glu58Lys), rs376824588, ClinGen CA29625150, ClinVar RCV002564348, ClinVar RCV004996151, REVEL 0.19, MetaLR 0.07, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- E58V (p.Glu58Val), rs764732977, ClinGen CA1023993, ClinVar RCV000213554, ClinVar RCV001102445, REVEL 0.20, MetaLR 0.08, Uncertain significance, Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- P59A (p.Pro59Ala), TOPMed rs866858282, gnomAD rs866858282, REVEL 0.23, MetaLR 0.09, Uncertain significance
- P59L (p.Pro59Leu), rs2526106120, ClinGen CA341767084, ClinVar RCV004508310, ClinVar RCV006488659, REVEL 0.44, MetaLR 0.25, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- P59S (p.Pro59Ser), rs866858282, ClinGen CA29625145, ClinVar RCV002529910, ClinVar RCV003303018, REVEL 0.17, MetaLR 0.08, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- P59T (p.Pro59Thr), rs866858282, ClinGen CA341767088, ClinVar RCV002569240, TOPMed rs866858282, REVEL 0.30, MetaLR 0.13, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- V60L (p.Val60Leu), rs1649201569, ClinGen CA341767082, ClinVar RCV002404201, TOPMed rs1649201569, REVEL 0.06, MetaLR 0.04, Uncertain significance, Cardiovascular phenotype
- V60M (p.Val60Met), TOPMed rs1649201569, gnomAD rs1649201569, Uncertain significance, Cardiovascular phenotype
- S61F (p.Ser61Phe), ExAC rs760575933, gnomAD rs760575933, REVEL 0.17, MetaLR 0.12
- K64N (p.Lys64Asn), Ensembl rs1649201189
- V65I (p.Val65Ile), TOPMed rs1649201121
- T66A (p.Thr66Ala), rs2526105980, ClinGen CA2580060843, ClinVar RCV002421722, REVEL 0.09, MetaLR 0.01, Benign, Cardiovascular phenotype; not specified; not provided
- T66M (p.Thr66Met), rs1557809802, NCI-TCGA Cosmic COSV5477, TOPMed rs1557809802, REVEL 0.07, MetaLR 0.02, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- Q67* (p.Gln67Ter), rs2526105965, ClinGen CA341767037, ClinVar RCV002417068, ClinVar RCV003526193, CADD 41.00, Pathogenic
- K68Q (p.Lys68Gln), rs2526105960, ClinGen CA341767031, ClinVar RCV004508311, Uncertain significance, Cardiovascular phenotype
- Q69* (p.Gln69Ter), rs761862949, ClinGen CA341767022, ClinVar RCV003639646, ExAC rs761862949, AlphaMissense 0.09, MetaLR 0.43, Pathogenic
- Q69E (p.Gln69Glu), rs761862949, ClinGen CA1023989, ClinVar RCV000800247, ClinVar RCV003166189, REVEL 0.41, AlphaMissense 0.09, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor
- F70L (p.Phe70Leu), rs774492523, ClinGen CA341767009, ClinVar RCV002548703, ExAC rs774492523, REVEL 0.16, MetaLR 0.03, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- Q71H (p.Gln71His), ExAC rs749547074, TOPMed rs749547074, gnomAD rs749547074, REVEL 0.14, MetaLR 0.02
- Q71P (p.Gln71Pro), ExAC rs768702390, TOPMed rs768702390, gnomAD rs768702390, REVEL 0.21, MetaLR 0.16, Uncertain significance, Cardiovascular phenotype
- L72M (p.Leu72Met), TOPMed rs1313907477, gnomAD rs1313907477, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- L72P (p.Leu72Pro), NCI-TCGA Cosmic COSV5477, REVEL 0.29, MetaLR 0.15, Variant assessed as somatic; moderate impact.
- E74* (p.Glu74Ter), 1000Genomes rs527426700, ExAC rs527426700, gnomAD rs527426700, CADD 45.00
- V76A (p.Val76Ala), rs1649199632, ClinGen CA341766973, ClinVar RCV003104029, gnomAD rs1649199632, REVEL 0.43, MetaLR 0.36, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- V76M (p.Val76Met), rs10801999, ClinGen CA282349, ClinVar RCV000037138, ClinVar RCV000253496, REVEL 0.25, MetaLR 0.53, Benign/Likely benign, Cardiovascular phenotype; not specified; not provided
- L77F (p.Leu77Phe), rs781778467, ClinGen CA1023983, ClinVar RCV000618067, ClinVar RCV002531804, REVEL 0.54, MetaLR 0.60, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- L77H (p.Leu77His), Ensembl rs1432869286, REVEL 0.73, MetaLR 0.64
- L77V (p.Leu77Val), ExAC rs781778467, TOPMed rs781778467, gnomAD rs781778467, Uncertain significance
- L79F (p.Leu79Phe), rs771298193, ClinGen CA1023964, ClinVar RCV000523944, ClinVar RCV002448581, REVEL 0.59, MetaLR 0.60, Uncertain significance, Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- A81T (p.Ala81Thr), rs1239940555, NCI-TCGA Cosmic COSV5477, gnomAD rs1239940555, REVEL 0.73, MetaLR 0.61, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2
- A81V (p.Ala81Val), rs1648331024, ClinGen CA341765539, ClinVar RCV003106201, TOPMed rs1648331024, REVEL 0.80, MetaLR 0.60, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- Q82* (p.Gln82Ter), rs2526032244, ClinGen CA341765536, ClinVar RCV003639272, NCI-TCGA TCGA novel, CADD 50.00, Pathogenic
- Q82H (p.Gln82His), TOPMed rs1048509293, gnomAD rs1048509293, REVEL 0.68, MetaLR 0.49
- Q82R (p.Gln82Arg), ExAC rs747587377, TOPMed rs747587377, gnomAD rs747587377, REVEL 0.67, MetaLR 0.50
- L84F (p.Leu84Phe), rs1274422352, ClinGen CA341765524, ClinVar RCV002553379, TOPMed rs1274422352, AlphaMissense 0.56, MetaLR 0.65, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- L84V (p.Leu84Val), TOPMed rs1274422352, gnomAD rs1274422352, REVEL 0.54, AlphaMissense 0.56, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- E85Q (p.Glu85Gln), NCI-TCGA Cosmic COSV5476, Variant assessed as somatic; moderate impact.
- H86Q (p.His86Gln), rs2526032204, ClinGen CA341765498, ClinVar RCV002452889, REVEL 0.17, MetaLR 0.11, Uncertain significance, Cardiovascular phenotype
- H86R (p.His86Arg), rs372587044, ClinGen CA1023962, ClinVar RCV002557636, ClinVar RCV005535131, REVEL 0.11, MetaLR 0.11, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- A88S (p.Ala88Ser), gnomAD rs1648330430, REVEL 0.09, MetaLR 0.09
- I89V (p.Ile89Val), rs368650614, ClinGen CA1023961, ClinVar RCV002428726, ClinVar RCV003102083, REVEL 0.24, MetaLR 0.33, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym
- G90D (p.Gly90Asp), ExAC rs748926974, gnomAD rs748926974, REVEL 0.76, MetaLR 0.65
- G90R (p.Gly90Arg), rs1208892614, ClinGen CA341765458, ClinVar RCV002437354, ClinVar RCV003102116, REVEL 0.71, MetaLR 0.65, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym
- G90S (p.Gly90Ser), NCI-TCGA Cosmic COSV5476, Variant assessed as somatic; moderate impact.
- F91L (p.Phe91Leu), TOPMed rs1648329678, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- V92M (p.Val92Met), NCI-TCGA Cosmic COSV9979, Variant assessed as somatic; moderate impact.
- M93I (p.Met93Ile), rs2526031912, ClinGen CA341765412, ClinVar RCV003176955, REVEL 0.32, MetaLR 0.26, Uncertain significance, Cardiovascular phenotype
- M93T (p.Met93Thr), rs1328122344, ClinGen CA341765416, ClinVar RCV002642000, gnomAD rs1328122344, REVEL 0.25, MetaLR 0.24, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- M93V (p.Met93Val), TOPMed rs1250403818, gnomAD rs1250403818, REVEL 0.27, MetaLR 0.15, Uncertain significance, Cardiovascular phenotype
- V94A (p.Val94Ala), rs755766840, ClinGen CA1023959, ClinVar RCV002562753, ClinVar RCV003339842, REVEL 0.53, MetaLR 0.24, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- V94M (p.Val94Met), gnomAD rs1364367258, REVEL 0.37, MetaLR 0.22
- D95E (p.Asp95Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A96G (p.Ala96Gly), Ensembl rs1472557102, REVEL 0.10, MetaLR 0.06, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- A96T (p.Ala96Thr), rs2101100994, ClinGen CA341765375, ClinVar RCV002550991, Ensembl rs2101100994, AlphaMissense 0.09, MetaLR 0.03, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- K97E (p.Lys97Glu), rs750159744, ClinGen CA1023958, ClinVar RCV001256930, ClinVar RCV002436977, REVEL 0.05, MetaLR 0.04, Conflicting interpretations, Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- K97T (p.Lys97Thr), rs2526031875, ClinGen CA341765358, ClinVar RCV002439799, Uncertain significance, Cardiovascular phenotype
- K98E (p.Lys98Glu), rs2526031864, ClinGen CA341765347, ClinVar RCV003021598, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- A100V (p.Ala100Val), rs779074469, ClinGen CA29609772, ClinVar RCV002636630, ClinVar RCV003358108, REVEL 0.44, MetaLR 0.52, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- L102H (p.Leu102His), rs2526031822, ClinGen CA341765276, ClinVar RCV003039820, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- L102V (p.Leu102Val), Ensembl rs1648328687
- A103D (p.Ala103Asp), NCI-TCGA Cosmic COSV5477, Variant assessed as somatic; moderate impact.
- K104T (p.Lys104Thr), rs781062859, ClinGen CA1023957, ClinVar RCV000611121, ExAC rs781062859, REVEL 0.76, MetaLR 0.59, Uncertain significance, not specified
- G107S (p.Gly107Ser), TOPMed rs1458692786
- D109V (p.Asp109Val), rs946911897, ClinGen CA29606348, ClinVar RCV002499412, ClinVar RCV002564080, REVEL 0.09, MetaLR 0.09, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- G112E (p.Gly112Glu), ExAC rs777830959, TOPMed rs777830959, gnomAD rs777830959, REVEL 0.29, MetaLR 0.11, Uncertain significance, not provided
- S113G (p.Ser113Gly), rs758425455, ClinGen CA341764513, ClinVar RCV002451805, AlphaMissense 0.97, MetaLR 0.24, Uncertain significance, Cardiovascular phenotype
- S113N (p.Ser113Asn), rs199750975, ClinGen CA175375, ClinVar RCV000150229, ClinVar RCV000170907, REVEL 0.44, MetaLR 0.25, Uncertain significance, not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul
- S113R (p.Ser113Arg), rs758425455, ClinGen CA1023935, ClinVar RCV003817189, ClinVar RCV004992883, REVEL 0.52, AlphaMissense 0.97, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- L114R (p.Leu114Arg), gnomAD rs1481852204, REVEL 0.49, MetaLR 0.22
- Y115C (p.Tyr115Cys), rs1231549562, TOPMed rs1231549562, gnomAD rs1231549562, REVEL 0.83, MetaLR 0.65, Variant assessed as somatic; moderate impact.
- I116V (p.Ile116Val), Ensembl rs774156364, REVEL 0.19, MetaLR 0.04, Likely benign, Cardiovascular phenotype
- G119D (p.Gly119Asp), NCI-TCGA Cosmic COSV9979, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- G119S (p.Gly119Ser), TOPMed rs1648148540, gnomAD rs1648148540, REVEL 0.06, MetaLR 0.08
- R121C (p.Arg121Cys), rs570840019, ClinGen CA1023934, ClinVar RCV002518328, ClinVar RCV003165613, REVEL 0.54, MetaLR 0.52, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- R121H (p.Arg121His), rs759805011, ClinGen CA1023933, NCI-TCGA Cosmic COSV5476, ClinVar RCV002460327, REVEL 0.19, MetaLR 0.19, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- R121L (p.Arg121Leu), rs759805011, ClinGen CA341764458, ClinVar RCV002452352, ExAC rs759805011, REVEL 0.49, MetaLR 0.33, Uncertain significance, Cardiovascular phenotype
- R121S (p.Arg121Ser), NCI-TCGA Cosmic COSV5477, Variant assessed as somatic; moderate impact.
- I123L (p.Ile123Leu), ExAC rs754139403, TOPMed rs754139403, gnomAD rs754139403, REVEL 0.54, MetaLR 0.44, Uncertain significance, Cardiovascular phenotype
- I123V (p.Ile123Val), ExAC rs754139403, TOPMed rs754139403, gnomAD rs754139403, REVEL 0.22, MetaLR 0.20
- D126H (p.Asp126His), rs727502908, ClinGen CA175371, ClinVar RCV000150227, ClinVar RCV000496815, REVEL 0.69, MetaLR 0.61, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- D126N (p.Asp126Asn), NCI-TCGA Cosmic COSV5477, REVEL 0.47, MetaLR 0.45, Variant assessed as somatic; moderate impact.
- G127D (p.Gly127Asp), ExAC rs761169437, TOPMed rs761169437, gnomAD rs761169437, REVEL 0.54, MetaLR 0.41, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- E128D (p.Glu128Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E128K (p.Glu128Lys), rs1557798151, ClinGen CA341764414, ClinVar RCV000768703, ClinVar RCV002352276, AlphaMissense 0.30, MetaLR 0.31, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Catecholaminergic polymorphic ventricu
- E128Q (p.Glu128Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A130V (p.Ala130Val), rs867815346, ClinGen CA29606219, ClinVar RCV003068593, ClinVar RCV003294444, REVEL 0.21, MetaLR 0.15, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- D132V (p.Asp132Val), rs1648147556, ClinGen CA341764385, ClinVar RCV002375444, ClinVar RCV006470639, REVEL 0.84, MetaLR 0.63, Uncertain significance, Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- D132Y (p.Asp132Tyr), Ensembl rs969295278
- V133I (p.Val133Ile), NCI-TCGA Cosmic COSV9979, Variant assessed as somatic; moderate impact.
- L134W (p.Leu134Trp), rs2526018580, ClinGen CA341764372, ClinVar RCV003368084, REVEL 0.62, MetaLR 0.32, Uncertain significance, Cardiovascular phenotype
- V135L (p.Val135Leu), TOPMed rs1371033125, gnomAD rs1371033125
- V135M (p.Val135Met), TOPMed rs1371033125, gnomAD rs1371033125, REVEL 0.65, MetaLR 0.69
- E136K (p.Glu136Lys), rs1288753581, ClinGen CA341764363, ClinVar RCV003023651, TOPMed rs1288753581, REVEL 0.63, MetaLR 0.59, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- E136Q (p.Glu136Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F137L (p.Phe137Leu), rs762328417, ClinGen CA1023928, ClinVar RCV002504281, ClinVar RCV002562537, REVEL 0.45, MetaLR 0.20, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- L138P (p.Leu138Pro), ExAC rs769333253, gnomAD rs769333253, REVEL 0.66, MetaLR 0.28
- L141R (p.Leu141Arg), rs1648036832, ClinGen CA341764018, ClinVar RCV002547982, Ensembl rs1648036832, REVEL 0.68, MetaLR 0.49, Uncertain significance, Catecholaminergic polymorphic ventricular tachycardia 1
- I142T (p.Ile142Thr), TOPMed rs1648036573, gnomAD rs1648036573, REVEL 0.40, MetaLR 0.28
- D144E (p.Asp144Glu), ExAC rs746672938, TOPMed rs746672938, gnomAD rs746672938, Likely benign
- P145L (p.Pro145Leu), TOPMed rs1648036076
Public CASQ2 analysis runs
- CASQ2 analysis run — CASQ2 (760 variants) — completed 2026-08-20