CALM2 (Calmodulin-2) variants and mutations
CALM2 (also known as Calmodulin-2) is a human protein-coding gene encoding a calmodulin-2 protein. It supplies an identical calmodulin protein that couples changes in intracellular calcium to numerous signaling and ion-channel targets. Pathogenic missense variants can cause calmodulinopathy with malignant ventricular arrhythmias, including long-QT syndrome and catecholaminergic polymorphic ventricular tachycardia. This analysis covers 245 CALM2 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes long QT syndrome 15, Romano-Ward syndrome, and familial long QT syndrome. Example CALM2 variants include M1?, D3E, and D3H.
Variant analysis overview
- Gene: CALM2
- Protein: Calmodulin-2
- UniProt accession: P0DP24
- Organism: Homo sapiens
- Variants analyzed: 245
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 200 unspecified-consequence records; 3 stop lost; 1 stop retained variant; 27 missense variants; 9 synonymous variants; 1 frameshift variants; 1 stop-gained variants; 2 splice-region variants; 1 substitution
- Prediction scores: 198 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: long QT syndrome 15, Romano-Ward syndrome, familial long QT syndrome, long QT syndrome 1, Prolonged QT interval, bacterial infectious disease, Abnormality of the cardiovascular system, sudden infant death syndrome, alcohol drinking, catecholaminergic polymorphic ventricular tachycardia, neurodegenerative disease, thyroid gland disorder.
Protein structure and variant hotspots
- Protein features: 4 domains; 20 binding sites; 11 post-translational modification sites.
- Structural context: 232 variants have structural context.
- 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 CALM2 variants
Examples include M1?, D3E, D3H, D3N, L5M, T6I, T6S, E8*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- D3E (p.Asp3Glu), TOPMed rs1463101364, gnomAD rs1463101364, Uncertain significance, Long QT syndrome 1
- D3H (p.Asp3His), cosmic curated COSV10501, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D3N (p.Asp3Asn), ExAC rs778455345, gnomAD rs778455345, MetaLR 0.12, MetaSVM -0.96, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome 1
- L5M (p.Leu5Met), Ensembl rs1886977818
- T6I (p.Thr6Ile), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, MetaLR 0.25, MetaSVM -0.57, Variant assessed as somatic; moderate impact.
- T6S (p.Thr6Ser), gnomAD rs1439126449, REVEL 0.16, MetaLR 0.21, Uncertain significance, Long QT syndrome 1
- E8* (p.Glu8Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E8D (p.Glu8Asp), rs1001080500, ClinGen CA406470843, ClinVar RCV002003340, TOPMed rs1001080500, AlphaMissense 0.20, MetaLR 0.11, Likely benign
- Q9H (p.Gln9His), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55398, NCI-TCGA Cosmic COSV5219, cosmic curated COSV52194, Variant assessed as somatic; moderate impact.
- I10M (p.Ile10Met), cosmic curated COSV52194
- I10T (p.Ile10Thr), ESP rs373571763
- I10V (p.Ile10Val), ExAC rs765365900, gnomAD rs765365900, MetaLR 0.70, MetaSVM 0.43, Uncertain significance
- A11S (p.Ala11Ser), TOPMed rs1886978741
- A11T (p.Ala11Thr), NCI-TCGA Cosmic COSV9935, cosmic curated COSV99355, Variant assessed as somatic; moderate impact.
- E12* (p.Glu12Ter), cosmic curated COSV99355
- E12G (p.Glu12Gly), NCI-TCGA Cosmic COSV9935, cosmic curated COSV99355, MetaLR 0.70, MetaSVM 0.37, Variant assessed as somatic; moderate impact.
- F13L (p.Phe13Leu), NCI-TCGA Cosmic COSV5540, cosmic curated COSV55400, Variant assessed as somatic; moderate impact.
- F13V (p.Phe13Val), NCI-TCGA TCGA novel, MetaLR 0.66, MetaSVM 0.36, Variant assessed as somatic; moderate impact.
- K14E (p.Lys14Glu), gnomAD rs1354288400, REVEL 0.80, MetaLR 0.79
- K14R (p.Lys14Arg), gnomAD rs1307543946, REVEL 0.65, MetaLR 0.68, Uncertain significance, Long QT syndrome 1
- E15* (p.Glu15Ter), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55399, Variant assessed as somatic; high impact.
- E15D (p.Glu15Asp), TOPMed rs1366326090, gnomAD rs1366326090
- E15G (p.Glu15Gly), cosmic curated COSV10462, MetaLR 0.89, MetaSVM 0.94
- A16G (p.Ala16Gly), rs1599758635, ClinGen CA406471673, ClinVar RCV004577345, Ensembl rs1599758635, AlphaMissense 0.90, MetaLR 0.73, Uncertain significance
- A16T (p.Ala16Thr), gnomAD rs1462073630
- S18L (p.Ser18Leu), ExAC rs778389067, gnomAD rs778389067, REVEL 0.55, MetaLR 0.54
- L19V (p.Leu19Val), NCI-TCGA Cosmic COSV5539, Variant assessed as somatic; moderate impact.
- D21N (p.Asp21Asn), cosmic curated COSV10955, Ensembl rs976949001, MetaLR 0.90, MetaSVM 0.99
- D23E (p.Asp23Glu), cosmic curated COSV52194
- D23G (p.Asp23Gly), NCI-TCGA Cosmic COSV9970, cosmic curated COSV99700, Uncertain significance, Cardiovascular phenotype
- D23Y (p.Asp23Tyr), rs1064795808, ClinGen CA16619891, ClinVar RCV000483941, Ensembl rs1064795808, MetaLR 0.65, MetaSVM 0.45, Uncertain significance
- G24A (p.Gly24Ala), ExAC rs112786165, TOPMed rs112786165, gnomAD rs112786165, REVEL 0.66, MetaLR 0.59
- G24D (p.Gly24Asp), ExAC rs112786165, TOPMed rs112786165, gnomAD rs112786165
- G24R (p.Gly24Arg), TOPMed rs1971785461
- G24V (p.Gly24Val), ExAC rs112786165, TOPMed rs112786165, gnomAD rs112786165, MetaLR 0.59, MetaSVM 0.20
- G26C (p.Gly26Cys), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, Variant assessed as somatic; moderate impact.
- G26D (p.Gly26Asp), rs1971785540, ClinGen CA406471820, ClinVar RCV002409903, ClinVar RCV005620448, AlphaMissense 0.98, MetaLR 0.89, Uncertain significance
- G26E (p.Gly26Glu), NCI-TCGA Cosmic COSV5540, cosmic curated COSV55400, REVEL 0.60, MetaLR 0.33, Variant assessed as somatic; moderate impact.
- G26V (p.Gly26Val), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, MetaLR 0.38, MetaSVM -0.27, Variant assessed as somatic; moderate impact.
- T27S (p.Thr27Ser), rs1131691669, ClinGen CA346720087, ClinVar RCV000493725, ClinVar RCV001856970, REVEL 0.34, MetaLR 0.54, Uncertain significance, Cardiovascular phenotype
- I28V (p.Ile28Val), rs763100441, NCI-TCGA Cosmic COSV5219, cosmic curated COSV52195, ExAC rs763100441, REVEL 0.50, MetaLR 0.54, Variant assessed as somatic; moderate impact.
- T30P (p.Thr30Pro), rs1057521851, ClinGen CA16606882, ClinVar RCV000431318, Ensembl rs1057521851, MetaLR 0.63, MetaSVM 0.31, Likely pathogenic
- T30S (p.Thr30Ser), cosmic curated COSV52194, MetaLR 0.75, MetaSVM 0.58
- K31E (p.Lys31Glu), NCI-TCGA Cosmic COSV6366, cosmic curated COSV63663, Uncertain significance, Long QT syndrome 1
- E32Q (p.Glu32Gln), Ensembl rs2122245414, MetaLR 0.44, MetaSVM -0.22
- L33F (p.Leu33Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L33V (p.Leu33Val), TOPMed rs1887014864
- T35I (p.Thr35Ile), rs757523692, ClinGen CA1648594, ClinVar RCV002272427, ClinVar RCV002402782, REVEL 0.88, MetaLR 0.75, Uncertain significance, not provided; Long QT syndrome 1; Cardiovascular phenotype
- V36A (p.Val36Ala), NCI-TCGA TCGA novel, REVEL 0.88, MetaLR 0.76, Variant assessed as somatic; moderate impact.
- V36L (p.Val36Leu), rs1887015236, ClinGen CA390689365, ClinVar RCV001048231, Ensembl rs1887015236, CADD 2.34, SIFT 1.00, Uncertain significance
- M37I (p.Met37Ile), Ensembl rs11551432, MetaLR 0.15, MetaSVM -0.91
- S39P (p.Ser39Pro), Ensembl rs11551458
- S39Y (p.Ser39Tyr), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55399, MetaLR 0.75, MetaSVM 0.59, Variant assessed as somatic; moderate impact.
- L40P (p.Leu40Pro), 1000Genomes rs199950662
- G41S (p.Gly41Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q42* (p.Gln42Ter), ExAC rs775591771, gnomAD rs775591771
- Q42L (p.Gln42Leu), 1000Genomes rs199897752
- Q42R (p.Gln42Arg), Ensembl rs11551442
- P44L (p.Pro44Leu), rs1599758674, ClinGen CA406472055, ClinVar RCV002234358, Ensembl rs1599758674, REVEL 0.82, MetaLR 0.82, Uncertain significance
- T45P (p.Thr45Pro), Ensembl rs1687190786
- E48* (p.Glu48Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E48K (p.Glu48Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E48V (p.Glu48Val), cosmic curated COSV99355, MetaLR 0.71, MetaSVM 0.50
- Q50H (p.Gln50His), NCI-TCGA Cosmic COSV9935, cosmic curated COSV99355, CADD 6.59, SIFT 0.10, Variant assessed as somatic; moderate impact.
- Q50P (p.Gln50Pro), ExAC rs11551450, gnomAD rs11551450
- Q50R (p.Gln50Arg), ExAC rs11551450, gnomAD rs11551450, REVEL 0.51, MetaLR 0.49
- M52V (p.Met52Val), NCI-TCGA Cosmic COSV9935, cosmic curated COSV99355, MetaLR 0.44, MetaSVM -0.08, Variant assessed as somatic; moderate impact.
- I53V (p.Ile53Val), rs1553431807, ClinGen CA346719813, ClinVar RCV000555733, Ensembl rs1553431807, REVEL 0.45, MetaLR 0.49, Uncertain significance, Long QT syndrome 1
- N54D (p.Asn54Asp), cosmic curated COSV10439
- N54I (p.Asn54Ile), rs267607276, ClinGen CA343809, ClinVar RCV000032976, ClinVar RCV000157133, AlphaMissense 0.11, MetaLR 0.32, Pathogenic
- N54S (p.Asn54Ser), cosmic curated COSV10968, TOPMed rs267607276, gnomAD rs267607276, MetaLR 0.49, MetaSVM 0.03, Likely pathogenic
- D57N (p.Asp57Asn), NCI-TCGA TCGA novel, MetaLR 0.77, MetaSVM 0.57, Variant assessed as somatic; moderate impact.
- A58P (p.Ala58Pro), rs2103825594, ClinGen CA346719732, ClinVar RCV001765233, ClinVar RCV005094951, AlphaMissense 0.99, MetaLR 0.75, Uncertain significance, Long QT syndrome 1; not provided
- D59H (p.Asp59His), NCI-TCGA Cosmic COSV9970, cosmic curated COSV99700, Variant assessed as somatic; moderate impact.
- G60R (p.Gly60Arg), NCI-TCGA Cosmic COSV9935, cosmic curated COSV99355, Variant assessed as somatic; moderate impact.
- N61H (p.Asn61His), cosmic curated COSV10501
- N61S (p.Asn61Ser), rs2103825319, ClinGen CA346719643, ClinVar RCV001873853, Ensembl rs2103825319, AlphaMissense 0.22, MetaLR 0.49, Uncertain significance, Long QT syndrome 1
- G62D (p.Gly62Asp), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55399, Variant assessed as somatic; moderate impact.
- G62R (p.Gly62Arg), cosmic curated COSV52194, ExAC rs762484332, TOPMed rs762484332, gnomAD rs762484332
- D65H (p.Asp65His), NCI-TCGA Cosmic COSV5540, cosmic curated COSV55400, Variant assessed as somatic; moderate impact.
- P67L (p.Pro67Leu), NCI-TCGA Cosmic COSV6366, cosmic curated COSV63663, Ensembl rs1971792952, Variant assessed as somatic; moderate impact.
- P67Q (p.Pro67Gln), cosmic curated COSV10879
- P67S (p.Pro67Ser), gnomAD rs1373581301, MetaLR 0.75, MetaSVM 0.60
- E68* (p.Glu68Ter), NCI-TCGA Cosmic COSV6366, cosmic curated COSV63662, Variant assessed as somatic; high impact.
- E68A (p.Glu68Ala), rs1687186092, ClinGen CA346719535, ClinVar RCV002242197, Ensembl rs1687186092, AlphaMissense 0.99, MetaLR 0.75, Uncertain significance, Long QT syndrome 1
- E68K (p.Glu68Lys), NCI-TCGA Cosmic COSV6366, cosmic curated COSV63663, Variant assessed as somatic; moderate impact.
- L70F (p.Leu70Phe), NCI-TCGA Cosmic COSV6366, cosmic curated COSV63662, Variant assessed as somatic; moderate impact.
- M72L (p.Met72Leu), NCI-TCGA Cosmic COSV9935, cosmic curated COSV99355, Variant assessed as somatic; moderate impact.
- M72T (p.Met72Thr), NCI-TCGA TCGA novel, MetaLR 0.44, MetaSVM -0.08, Variant assessed as somatic; moderate impact.
- M73I (p.Met73Ile), NCI-TCGA Cosmic COSV9935, cosmic curated COSV99355, NCI-TCGA Cosmic COSV6366, cosmic curated COSV63663, REVEL 0.82, MetaLR 0.54, Variant assessed as somatic; moderate impact.
- A74T (p.Ala74Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K76N (p.Lys76Asn), TOPMed rs1156698660
- M77I (p.Met77Ile), gnomAD rs1333482396
- M77V (p.Met77Val), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55398, MetaLR 0.67, MetaSVM 0.45, Variant assessed as somatic; moderate impact.
- D79E (p.Asp79Glu), NCI-TCGA Cosmic COSV5540, cosmic curated COSV55400, Variant assessed as somatic; moderate impact.
- S82R (p.Ser82Arg), ExAC rs753602780, gnomAD rs753602780
- E83K (p.Glu83Lys), rs1687185703, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, ClinGen CA346719412, AlphaMissense 0.86, MetaLR 0.71, Uncertain significance, Long QT syndrome 1
- R87* (p.Arg87Ter), gnomAD rs1687185562, cosmic curated COSV99059, CADD 38.00
- R87Q (p.Arg87Gln), rs1307420144, NCI-TCGA Cosmic COSV5219, cosmic curated COSV52194, gnomAD rs1307420144, AlphaMissense 0.25, MetaLR 0.58, Variant assessed as somatic; moderate impact.
- A89T (p.Ala89Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A89V (p.Ala89Val), ExAC rs756526606, gnomAD rs756526606, MetaLR 0.75, MetaSVM 0.60
- F90L (p.Phe90Leu), rs730882253, ClinGen CA186017, ClinVar RCV000162064, UniProt VAR 073275, REVEL 0.95, MetaLR 0.87, Likely pathogenic, Long QT syndrome 1
- R91* (p.Arg91Ter), NCI-TCGA Cosmic COSV6366, cosmic curated COSV63662, Variant assessed as somatic; high impact.
- R91C (p.Arg91Cys), cosmic curated COSV99700, Ensembl rs1687185440, cosmic curated COSV52194, REVEL 0.66, MetaLR 0.74, Uncertain significance, Long QT syndrome 1
- R91H (p.Arg91His), gnomAD rs1971794358, REVEL 0.62, MetaLR 0.78
- R91Q (p.Arg91Gln), Ensembl rs11541171
- R91S (p.Arg91Ser), cosmic curated COSV99355
- V92E (p.Val92Glu), gnomAD rs1687185375, REVEL 0.94, MetaLR 0.72
- F93L (p.Phe93Leu), NCI-TCGA TCGA novel, MetaLR 0.49, MetaSVM 0.03, Variant assessed as somatic; moderate impact.
- D94A (p.Asp94Ala), rs1060502608, ClinGen CA16616071, ClinVar RCV000475293, ClinVar RCV000786284, AlphaMissense 1.00, MetaLR 0.94, Pathogenic
- D94H (p.Asp94His), rs1887099943, ClinGen CA390690072, ClinVar RCV001216383, Ensembl rs1887099943, AlphaMissense 0.99, MetaLR 0.93, Uncertain significance
- D94N (p.Asp94Asn), NCI-TCGA TCGA novel, MetaLR 0.86, MetaSVM 0.79, Pathogenic, Long QT syndrome 1
- K95E (p.Lys95Glu), NCI-TCGA Cosmic COSV5540, cosmic curated COSV55400, Variant assessed as somatic; moderate impact.
- D96G (p.Asp96Gly), rs2139771574, ClinGen CA390690101, ClinVar RCV002211276, Ensembl rs2139771574, AlphaMissense 0.83, MetaLR 0.20, Pathogenic, Long QT syndrome 1
- D96H (p.Asp96His), rs1060502607, ClinGen CA16616292, ClinVar RCV002230393, ClinVar RCV004594063, AlphaMissense 0.99, MetaLR 0.62, Pathogenic, in LQT15
- D96V (p.Asp96Val), rs730882254, ClinGen CA186019, ClinVar RCV000162065, ClinVar RCV001547926, AlphaMissense 0.99, MetaLR 0.31, Pathogenic, Long QT syndrome 1; not provided
- D96Y (p.Asp96Tyr), rs1573214371, ClinGen CA346719304, ClinVar RCV002234248, ClinVar RCV005231341, AlphaMissense 0.99, MetaLR 0.34, Pathogenic, Long QT syndrome 15; Long QT syndrome 1
- G97A (p.Gly97Ala), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55399, MetaLR 0.78, MetaSVM 0.68, Variant assessed as somatic; moderate impact.
- N98I (p.Asn98Ile), rs398124647, ClinGen CA186027, ClinVar RCV000143837, ClinVar RCV000162068, AlphaMissense 0.29, MetaLR 0.49, Pathogenic, Long QT syndrome 1
- N98K (p.Asn98Lys), cosmic curated COSV52195
- N98S (p.Asn98Ser), rs398124647, ClinGen CA186025, ClinVar RCV000143836, ClinVar RCV000162067, AlphaMissense 0.29, MetaLR 0.49, Pathogenic, Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 1
- G99V (p.Gly99Val), NCI-TCGA TCGA novel, MetaLR 0.49, MetaSVM -0.00, Variant assessed as somatic; moderate impact.
- Y100* (p.Tyr100Ter), ExAC rs749089456, TOPMed rs749089456, gnomAD rs749089456
- Y100C (p.Tyr100Cys), rs1573214341, ClinGen CA346719278, ClinVar RCV001909631, Ensembl rs1573214341, REVEL 0.72, MetaLR 0.53, Uncertain significance, Long QT syndrome 1; Long QT syndrome 15
- Y100F (p.Tyr100Phe), Ensembl rs1573214341, MetaLR 0.49, MetaSVM 0.03, Uncertain significance
- I101M (p.Ile101Met), NCI-TCGA Cosmic COSV5219, cosmic curated COSV52194, Variant assessed as somatic; moderate impact.
- I101N (p.Ile101Asn), gnomAD rs1480930765
- I101V (p.Ile101Val), rs1595102592, ClinGen CA390690134, ClinVar RCV000798107, Ensembl rs1595102592, AlphaMissense 0.29, MetaLR 0.38, Uncertain significance, Long QT syndrome 1
- A103T (p.Ala103Thr), rs147880865, ClinGen CA9529818, ClinVar RCV001757345, ESP rs147880865, AlphaMissense 0.78, MetaLR 0.53, Uncertain significance, Long QT syndrome 1
- A103V (p.Ala103Val), rs1568666713, ClinGen CA406473026, ClinVar RCV000702453, Ensembl rs1568666713, AlphaMissense 0.86, MetaLR 0.48, Uncertain significance, Long QT syndrome 1
- A104T (p.Ala104Thr), rs767096742, ClinGen CA9529820, ClinVar RCV003087145, ExAC rs767096742, AlphaMissense 0.52, MetaLR 0.10, Uncertain significance, Long QT syndrome 1
- A104V (p.Ala104Val), rs11551437, ClinGen CA46690850, ClinVar RCV002320471, Ensembl rs11551437, REVEL 0.39, MetaLR 0.26, Uncertain significance, Cardiovascular phenotype
- E105K (p.Glu105Lys), rs1057523130, ClinGen CA16606883, ClinVar RCV000442999, Ensembl rs1057523130, AlphaMissense 0.98, MetaLR 0.65, Likely pathogenic
- E105Q (p.Glu105Gln), cosmic curated COSV52194, MetaLR 0.42, MetaSVM -0.26, Likely pathogenic, Long QT syndrome 15
- R107C (p.Arg107Cys), rs1599759441, ClinGen CA406473067, NCI-TCGA Cosmic COSV5219, cosmic curated COSV52194, REVEL 0.93, MetaLR 0.78, Uncertain significance, Cardiovascular phenotype; Long QT syndrome 1
- R107H (p.Arg107His), rs1398867574, ClinGen CA406473073, NCI-TCGA Cosmic COSV5219, cosmic curated COSV52194, REVEL 0.83, MetaLR 0.78, Uncertain significance
- H108D (p.His108Asp), rs2139771617, ClinGen CA390690178, ClinVar RCV002224275, Ensembl rs2139771617, AlphaMissense 0.93, MetaLR 0.59, Uncertain significance
- V109I (p.Val109Ile), rs1199451414, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, gnomAD rs1199451414, AlphaMissense 0.21, MetaLR 0.69, Uncertain significance
- V109L (p.Val109Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M110L (p.Met110Leu), rs2139771638, ClinGen CA390690191, ClinVar RCV001921674, Ensembl rs2139771638, AlphaMissense 0.49, MetaLR 0.42, Likely pathogenic, Cardiovascular phenotype; Long QT syndrome 1
- T111M (p.Thr111Met), rs764512871, ClinGen CA9529823, ClinVar RCV003608438, ClinVar RCV006272523, AlphaMissense 0.82, MetaLR 0.37, Uncertain significance
- N112D (p.Asn112Asp), NCI-TCGA Cosmic COSV9970, cosmic curated COSV99700, MetaLR 0.38, MetaSVM -0.28, Variant assessed as somatic; moderate impact.
- G114R (p.Gly114Arg), rs2103823712, ClinGen CA346719185, ClinVar RCV001787705, Ensembl rs2103823712, AlphaMissense 1.00, MetaLR 0.35, Pathogenic, SUDDEN INFANT DEATH SYNDROME
- G114W (p.Gly114Trp), cosmic curated COSV99355
- E115D (p.Glu115Asp), NCI-TCGA Cosmic COSV9970, cosmic curated COSV99700, Variant assessed as somatic; moderate impact.
- E115K (p.Glu115Lys), NCI-TCGA Cosmic COSV5539, cosmic curated COSV55399, Variant assessed as somatic; moderate impact.
- D119N (p.Asp119Asn), rs2122249750, ClinGen CA406473271, ClinVar RCV002454925, Ensembl rs2122249750, AlphaMissense 0.74, MetaLR 0.47, Uncertain significance
- E120D (p.Glu120Asp), Ensembl rs1687165583, MetaLR 0.58, MetaSVM 0.21
- V122G (p.Val122Gly), Ensembl rs1599759512, MetaLR 0.31, MetaSVM -0.40
- D123G (p.Asp123Gly), cosmic curated COSV10962, REVEL 0.69, MetaLR 0.31
- D123N (p.Asp123Asn), rs2122249867, ClinGen CA406473365, ClinVar RCV001896263, Ensembl rs2122249867, AlphaMissense 0.74, MetaLR 0.23, Uncertain significance
- E124K (p.Glu124Lys), Ensembl rs17850324, REVEL 0.42, MetaLR 0.35
- E124Q (p.Glu124Gln), Ensembl rs17850324, MetaLR 0.19, MetaSVM -0.81
- R127G (p.Arg127Gly), rs775065505, ClinGen CA1648541, ClinVar RCV002234997, ExAC rs775065505, REVEL 0.83, MetaLR 0.49, Uncertain significance, Long QT syndrome 1
- R127M (p.Arg127Met), cosmic curated COSV10962
- R127S (p.Arg127Ser), Ensembl rs1573214173
- E128* (p.Glu128Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- D130E (p.Asp130Glu), rs35617141, ClinGen CA406473547, ClinVar RCV001878519, 1000Genomes rs35617141, AlphaMissense 0.99, MetaLR 0.65, Pathogenic, in LQT15
- D130G (p.Asp130Gly), rs730882252, ClinGen CA186013, ClinVar RCV000162062, ClinVar RCV001781506, AlphaMissense 0.91, MetaLR 0.84, Pathogenic, Long QT syndrome 1
- D130H (p.Asp130His), rs1568666846, ClinGen CA406473530, ClinVar RCV000705754, Ensembl rs1568666846, AlphaMissense 1.00, MetaLR 0.86, Uncertain significance, in LQT15
- D130N (p.Asp130Asn), rs2103823638, ClinGen CA346719068, ClinVar RCV001922668, Ensembl rs2103823638, AlphaMissense 0.99, MetaLR 0.84, Pathogenic, Long QT syndrome 1
- D130V (p.Asp130Val), UniProt VAR 078262, MetaLR 0.82, MetaSVM 0.80, Pathogenic, in LQT15
- I131L (p.Ile131Leu), gnomAD rs1375374729, REVEL 0.32, MetaLR 0.31
- I131N (p.Ile131Asn), TOPMed rs1255299766, gnomAD rs1255299766, MetaLR 0.31, MetaSVM -0.40
- I131T (p.Ile131Thr), TOPMed rs1255299766, gnomAD rs1255299766, REVEL 0.38, MetaLR 0.20, Uncertain significance
- I131M (p.Ile131Met), gnomAD 2-47161751-A-C, REVEL 0.23, MetaLR 0.19
- D132E (p.Asp132Glu), rs398124648, ClinGen CA186030, ClinVar RCV000143838, ClinVar RCV000162069, AlphaMissense 0.99, MetaLR 0.45, Pathogenic, Long QT syndrome 15
- D132G (p.Asp132Gly), rs1687164164, ClinGen CA346719049, ClinVar RCV002241435, Ensembl rs1687164164, AlphaMissense 0.98, MetaLR 0.53, Pathogenic, Long QT syndrome 1
- D132N (p.Asp132Asn), rs1595102640, ClinGen CA390690352, ClinVar RCV000792817, Ensembl rs1595102640, AlphaMissense 0.41, MetaLR 0.27, Pathogenic, in LQT15
- D132V (p.Asp132Val), rs1887113791, ClinGen CA390690357, ClinVar RCV001219455, Ensembl rs1887113791, AlphaMissense 0.96, MetaLR 0.56, Pathogenic, in LQT15
- D132Y (p.Asp132Tyr), rs2103823612, ClinGen CA346719051, ClinVar RCV001972345, Ensembl rs2103823612, AlphaMissense 1.00, MetaLR 0.58, Pathogenic, Long QT syndrome 1
- G133A (p.Gly133Ala), NCI-TCGA Cosmic COSV5540, cosmic curated COSV55400, Variant assessed as somatic; moderate impact.
- G133E (p.Gly133Glu), rs1555366045, ClinGen CA390690363, ClinVar RCV000652517, Ensembl rs1555366045, AlphaMissense 0.73, MetaLR 0.55, Likely pathogenic
- G133S (p.Gly133Ser), rs2103823599, ClinGen CA346719046, ClinVar RCV002242878, Ensembl rs2103823599, AlphaMissense 0.56, MetaLR 0.58, Likely pathogenic, Long QT syndrome 1
- D134H (p.Asp134His), rs398124650, ClinGen CA186022, ClinVar RCV000143839, ClinVar RCV000162066, AlphaMissense 1.00, MetaLR 0.67, Pathogenic/Likely pathogenic, Long QT syndrome 15; Long QT syndrome 1
- D134N (p.Asp134Asn), rs398124650, ClinGen CA346719040, ClinVar RCV000523452, ClinVar RCV000532708, AlphaMissense 1.00, MetaLR 0.67, Likely pathogenic, Long QT syndrome 15; Long QT syndrome 1
- D134D (p.Asp134Asp), rs1687163831, gnomAD 2-47161742-A-G, CADD 10.50
- G135D (p.Gly135Asp), rs1471376840, ClinGen CA406473650, ClinVar RCV004577361, ClinVar RCV004996065, AlphaMissense 0.99, MetaLR 0.75, Uncertain significance
- G135R (p.Gly135Arg), TOPMed rs1887114062
Public CALM2 analysis runs
- CALM2 analysis run — CALM2 (245 variants) — completed 2026-08-20