CAV3 (Caveolin-3) variants and mutations
CAV3 (also known as Caveolin-3) is a human protein-coding gene encoding a caveolin-3 protein. Caveolin-3 forms caveolae in muscle-cell membranes and supports membrane signaling and repair. Variants cause a range of muscle disorders, including rippling muscle disease. This analysis covers 445 CAV3 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes rippling muscle disease 2, long QT syndrome 9, and distal myopathy. Example CAV3 variants include M2T, M2V, and M2I.
Variant analysis overview
- Gene: CAV3
- Protein: Caveolin-3
- UniProt accession: P56539
- Organism: Homo sapiens
- Variants analyzed: 445
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 277 unspecified-consequence records; 11 frameshift variants; 69 missense variants; 89 synonymous variants; 4 in-frame deletions; 2 stop-gained variants; 1 splice-region variants; 1 stop retained variant; 3 substitution
- Prediction scores: 447 variants have prediction scores (100% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: rippling muscle disease 2, long QT syndrome 9, distal myopathy, isolated asymptomatic elevation of creatine phosphokinase, sudden infant death syndrome, Prolonged QT interval, rippling muscle disease, Elevated circulating creatine kinase activity, Rare familial disorder with hypertrophic cardiomyopathy, hypertrophic cardiomyopathy 1, familial hypertrophic cardiomyopathy, caveolinopathy.
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.
Diseases linked to CAV3
Notable CAV3 variants
Examples include M2T, M2V, M2I, A3T, A3V, A3E, E4D, E4K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M2T (p.Met2Thr), rs375301072, ClinGen CA69861834, ClinVar RCV001069061, ESP rs375301072, ESM-1b 0.00, AlphaMissense 0.26, Uncertain significance, Long QT syndrome
- M2V (p.Met2Val), TOPMed rs1490110206, gnomAD rs1490110206, REVEL 0.72, ESM-1b 0.00
- M2I (p.Met2Ile), rs1060502318, gnomAD 3-8733881-TGG-T, CADD 27.60
- A3T (p.Ala3Thr), rs1291499448, ClinGen CA351661138, ClinVar RCV002009814, TOPMed rs1291499448, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- A3V (p.Ala3Val), gnomAD 3-8733884-C-T, REVEL 0.44, ESM-1b 0.00
- A3E (p.Ala3Glu), gnomAD 3-8733884-C-A, REVEL 0.39, ESM-1b 0.00
- E4D (p.Glu4Asp), Ensembl rs1707650758, ESM-1b 0.00, AlphaMissense 0.08
- E4K (p.Glu4Lys), rs1353541488, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, gnomAD rs1353541488, REVEL 0.56, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E4H (p.Glu4His), rs778914298, gnomAD 3-8733882-GGCAGAA, CADD 28.40
- E5D (p.Glu5Asp), rs1559639840, ClinGen CA351661170, ClinVar RCV000757057, Ensembl rs1559639840, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, not provided
- E5K (p.Glu5Lys), TOPMed rs1428083740, gnomAD rs1428083740, REVEL 0.70, ESM-1b 0.00
- E5Q (p.Glu5Gln), gnomAD 3-8733889-G-C, REVEL 0.44, ESM-1b 0.00
- H6L (p.His6Leu), rs1233979640, ClinGen CA351661179, ClinVar RCV001509208, ClinVar RCV002568006, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Cardiovascular phenotype; not provided; Long QT syndrome
- H6R (p.His6Arg), rs1233979640, ClinGen CA351661183, ClinVar RCV004091703, TOPMed rs1233979640, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- H6N (p.His6Asn), gnomAD 3-8733892-C-A, REVEL 0.29, ESM-1b 0.00
- H6D (p.His6Asp), gnomAD 3-8733892-C-G, REVEL 0.39, ESM-1b 0.00
- H6Y (p.His6Tyr), gnomAD 3-8733892-C-T, REVEL 0.37, ESM-1b 0.00
- H6Q (p.His6Gln), gnomAD 3-8733894-C-A, REVEL 0.33, ESM-1b 0.00
- H6H (p.His6His), gnomAD 3-8733894-C-T, CADD 9.88
- T7A (p.Thr7Ala), rs1227645764, ClinGen CA351661187, ClinVar RCV003532378, gnomAD rs1227645764, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- T7R (p.Thr7Arg), ExAC rs781333474, REVEL 0.25, ESM-1b 0.00
- T7K (p.Thr7Lys), gnomAD 3-8733896-C-A, REVEL 0.23, ESM-1b 0.00
- T7T (p.Thr7Thr), gnomAD 3-8733897-A-C, CADD 3.16
- D8N (p.Asp8Asn), rs2124977121, ClinGen CA351661200, cosmic curated COSV59561, ClinVar RCV001728080, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Long QT syndrome 9
- L9F (p.Leu9Phe), gnomAD 3-8733901-C-T, REVEL 0.62, ESM-1b 0.00
- L9L (p.Leu9Leu), rs1974763, gnomAD 3-8733903-C-T, CADD 10.50
- E10G (p.Glu10Gly), cosmic curated COSV10968, REVEL 0.61, ESM-1b 0.00
- E10K (p.Glu10Lys), rs139786391, ClinGen CA295956, cosmic curated COSV59561, ClinVar RCV000157844, REVEL 0.58, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Long QT syndrome; not specified
- E10E (p.Glu10Glu), rs587780883, gnomAD 3-8733906-G-A, CADD 10.10
- A11T (p.Ala11Thr), Ensembl rs991036167, REVEL 0.34, ESM-1b 0.00
- A11V (p.Ala11Val), rs867194464, ClinGen CA69861862, ClinVar RCV000621948, ClinVar RCV000631558, REVEL 0.41, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not provided; Long QT syndrome
- A11D (p.Ala11Asp), gnomAD 3-8733908-C-A, REVEL 0.36, ESM-1b 0.00
- A11A (p.Ala11Ala), rs369206230, gnomAD 3-8733909-C-T, CADD 12.50
- Q12H (p.Gln12His), rs1553613127, ClinGen CA351661295, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10066, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Long QT syndrome
- Q12L (p.Gln12Leu), cosmic curated COSV59562, REVEL 0.43, ESM-1b 0.00
- Q12R (p.Gln12Arg), rs1707652057, ClinGen CA351661289, ClinVar RCV001326057, ClinVar RCV002504511, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Long QT syndrome 9; Hypertrophic cardiomyopathy 1; Distal myopathy, Tateyama typ
- I13F (p.Ile13Phe), rs796052171, ClinGen CA204138, ClinVar RCV000190168, Ensembl rs796052171, ESM-1b 0.00, AlphaMissense 0.10, Likely pathogenic, Long QT syndrome
- I13V (p.Ile13Val), rs796052171, ClinGen CA351661300, ClinVar RCV003177587, ClinVar RCV003906666, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- I13M (p.Ile13Met), gnomAD 3-8733915-C-G, REVEL 0.47, ESM-1b 0.00
- I13I (p.Ile13Ile), rs200562715, gnomAD 3-8733915-C-T, CADD 12.30
- V14I (p.Val14Ile), rs121909281, ClinGen CA175387, ClinVar RCV000150234, ClinVar RCV000619202, REVEL 0.21, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not specified; Cardiomyopathy
- V14L (p.Val14Leu), rs121909281, ClinGen CA215224, ClinVar RCV000008793, ClinVar RCV000024433, ESM-1b 0.00, AlphaMissense 0.06, Pathogenic, Long QT syndrome 9
- V14D (p.Val14Asp), gnomAD 3-8733917-T-A, REVEL 0.65, ESM-1b 0.00
- V14V (p.Val14Val), gnomAD 3-8733918-C-G, CADD 11.80
- p.Lys15 Asp16del, gnomAD 3-8733918-CAAGGAT, CADD 21.40
- D16N (p.Asp16Asn), rs1707652520, ClinGen CA351661324, cosmic curated COSV10464, ClinVar RCV001936428, ESM-1b 0.00, AlphaMissense 0.14, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- D16G (p.Asp16Gly), gnomAD 3-8733923-A-G, REVEL 0.81, ESM-1b 0.00
- I17T (p.Ile17Thr), rs2470043852, ClinGen CA351661350, ClinVar RCV003058857, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, Long QT syndrome
- I17I (p.Ile17Ile), rs1553613132, gnomAD 3-8733927-C-A, CADD 5.79
- H18R (p.His18Arg), rs730880424, ClinGen CA295959, ClinVar RCV000157845, ClinVar RCV001850195, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, not provided; Long QT syndrome
- H18Y (p.His18Tyr), gnomAD 3-8733928-C-T, REVEL 0.55, ESM-1b 0.00
- H18H (p.His18His), rs775054657, gnomAD 3-8733930-C-T, CADD 13.10
- C19* (p.Cys19Ter), rs1182984115, ClinGen CA351661381, ClinVar RCV001222783, ClinVar RCV001509209, CADD 37.00, Pathogenic
- C19R (p.Cys19Arg), rs760170984, ClinGen CA2236281, ClinVar RCV001343155, ClinVar RCV002350626, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Long QT syndrome; Cardiovascular phenotype
- C19Y (p.Cys19Tyr), rs963028152, ClinGen CA69861890, ClinVar RCV000806621, gnomAD rs963028152, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- K20E (p.Lys20Glu), rs1707653132, ClinGen CA351661387, ClinVar RCV001350841, Ensembl rs1707653132, ESM-1b 0.00, AlphaMissense 0.34, Uncertain significance, Long QT syndrome
- K20N (p.Lys20Asn), rs972788554, ClinGen CA351661399, ClinVar RCV002360170, ESM-1b 0.00, AlphaMissense 0.79, Uncertain significance, Cardiovascular phenotype
- K20Q (p.Lys20Gln), rs1707653132, ClinGen CA351661386, ClinVar RCV002299372, ESM-1b 0.00, AlphaMissense 0.34, Uncertain significance, Long QT syndrome
- K20K (p.Lys20Lys), rs972788554, gnomAD 3-8733936-G-A, CADD 11.60
- E21* (p.Glu21Ter), cosmic curated COSV10066, CADD 46.00
- E21K (p.Glu21Lys), rs867303882, cosmic curated COSV10464, NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV5956, ESM-1b 0.00, AlphaMissense 0.63, Variant assessed as somatic; moderate impact.
- E21I (p.Glu21Ile), rs750675944, gnomAD 3-8733896-C-CAGAT, CADD 21.60
- E21E (p.Glu21Glu), rs1417709772, gnomAD 3-8733939-G-A, CADD 12.90
- I22T (p.Ile22Thr), rs763666060, ClinGen CA2236282, ClinVar RCV001197876, ClinVar RCV001300267, REVEL 0.87, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Rippling muscle disease 2; Long QT syndrome
- I22V (p.Ile22Val), TOPMed rs1466068629, gnomAD rs1466068629, REVEL 0.55, ESM-1b 0.00
- I22N (p.Ile22Asn), gnomAD 3-8733941-T-A, REVEL 0.87, ESM-1b 0.00
- D23E (p.Asp23Glu), Ensembl rs1559640041, REVEL 0.73, ESM-1b 0.00
- L24P (p.Leu24Pro), rs1707653769, ClinGen CA351661452, ClinVar RCV001341588, Ensembl rs1707653769, REVEL 0.92, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- L24V (p.Leu24Val), gnomAD 3-8733946-C-G, REVEL 0.67, ESM-1b 0.00
- L24L (p.Leu24Leu), gnomAD 3-8733948-G-C, CADD 12.40
- V25* (p.Val25Ter), gnomAD 3-8733947-TG-T, CADD 31.00
- R27* (p.Arg27Ter), rs199476324, ClinGen CA351661480, ClinVar RCV001050053, TOPMed rs199476324, AlphaMissense 0.99, MetaLR 0.94, Pathogenic, in HYPCK, RMD2 and MPDT
- R27G (p.Arg27Gly), rs199476324, ClinGen CA215172, ClinVar RCV000024407, ClinVar RCV002513227, ESM-1b 1.00, AlphaMissense 0.99, Pathogenic, Long QT syndrome
- R27L (p.Arg27Leu), gnomAD rs116840778, ESM-1b 1.00, AlphaMissense 0.99, Pathogenic, in HYPCK, RMD2 and MPDT
- R27P (p.Arg27Pro), rs116840778, ClinGen CA215237, ClinVar RCV000024438, ClinVar RCV002513228, ESM-1b 1.00, AlphaMissense 0.99, Conflicting interpretations, CAV3-related disorder; Long QT syndrome
- R27Q (p.Arg27Gln), rs116840778, ClinGen CA119434, ClinVar RCV000008777, ClinVar RCV000008778, REVEL 0.92, ESM-1b 1.00, Pathogenic, Rippling muscle disease 2; Elevated circulating creatine kinase activity; Long Q
- R27E (p.Arg27Glu), gnomAD 3-8733953-AC-A, CADD 25.50
- R27R (p.Arg27Arg), gnomAD 3-8733955-C-A, CADD 13.20
- D28E (p.Asp28Glu), rs116840782, ClinGen CA351661502, ClinVar RCV001289359, UniProt VAR 015374, ESM-1b 0.00, AlphaMissense 0.99, Likely pathogenic, not provided
- D28Y (p.Asp28Tyr), gnomAD 3-8733958-G-T, REVEL 0.93, ESM-1b 1.00
- D28H (p.Asp28His), gnomAD 3-8733958-G-C, REVEL 0.97, ESM-1b 0.00
- D28D (p.Asp28Asp), gnomAD 3-8733960-C-T, CADD 13.20
- P29H (p.Pro29His), rs116840786, ClinGen CA69861907, cosmic curated COSV10066, ClinVar RCV001956691, REVEL 0.91, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- P29L (p.Pro29Leu), rs116840786, ClinGen CA215147, NCI-TCGA Cosmic COSV1006, ESM-1b 0.00, AlphaMissense 0.90, Uncertain significance, Long QT syndrome
- P29S (p.Pro29Ser), rs116840785, ClinGen CA351661508, ClinVar RCV000631571, Ensembl rs116840785, ESM-1b 0.00, AlphaMissense 0.88, Uncertain significance, Long QT syndrome
- P29T (p.Pro29Thr), rs116840785, ClinGen CA215157, ClinVar RCV000024396, Ensembl rs116840785, REVEL 0.95, ESM-1b 0.00, not provided
- P29P (p.Pro29Pro), rs1381217678, gnomAD 3-8733963-C-T, CADD 14.40
- K30* (p.Lys30Ter), rs730880425, ClinGen CA295962, ClinVar RCV000157847, ClinVar RCV000766694, CADD 48.00, Uncertain significance
- K30Q (p.Lys30Gln), rs730880425, ClinGen CA351661516, ClinVar RCV001215546, TOPMed rs730880425, REVEL 0.60, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- K30R (p.Lys30Arg), rs753431407, ClinGen CA2236283, ClinVar RCV000790453, ClinVar RCV001315851, REVEL 0.41, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided; Long QT syndrome
- N31I (p.Asn31Ile), rs886042674, ClinGen CA10604545, ClinVar RCV000370059, Ensembl rs886042674, ESM-1b 0.32, AlphaMissense 0.25, Uncertain significance, not provided
- N31Y (p.Asn31Tyr), rs2470043952, ClinGen CA351661530, ClinVar RCV002475089, ESM-1b 0.67, AlphaMissense 0.12, Uncertain significance, not provided
- N31N (p.Asn31Asn), gnomAD 3-8733969-C-T, CADD 11.20
- I32T (p.Ile32Thr), rs2470043957, ClinGen CA351661555, ClinVar RCV003177588, REVEL 0.77, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- I32I (p.Ile32Ile), gnomAD 3-8733972-T-C, CADD 5.37
- N33K (p.Asn33Lys), rs1008642, ClinGen CA119446, ClinVar RCV000008786, ClinVar RCV001212042, REVEL 0.72, ESM-1b 0.08, Pathogenic, Long QT syndrome; CAV3-related disorder
- N33N (p.Asn33Asn), rs1008642, gnomAD 3-8733975-C-T, CADD 7.85
- E34K (p.Glu34Lys), rs199476325, ClinGen CA215184, cosmic curated COSV59562, ClinVar RCV000024415, REVEL 0.67, ESM-1b 0.00, Conflicting interpretations, CAV3-related disorder; Cardiovascular phenotype; Long QT syndrome
- E34W (p.Glu34Trp), gnomAD 3-8733975-C-CTGGA, CADD 34.00
- E34* (p.Glu34Ter), gnomAD 3-8733976-G-T, CADD 50.00
- E34G (p.Glu34Gly), gnomAD 3-8733977-A-G, REVEL 0.67, ESM-1b 0.00
- E34D (p.Glu34Asp), gnomAD 3-8733978-G-C, REVEL 0.51, ESM-1b 0.00
- E34E (p.Glu34Glu), gnomAD 3-8733978-G-A, CADD 9.03
- D35H (p.Asp35His), rs2470043989, ClinGen CA351661601, ClinVar RCV003648470, ESM-1b 1.00, AlphaMissense 0.28, Uncertain significance, Long QT syndrome
- D35D (p.Asp35Asp), rs934110580, gnomAD 3-8733981-C-T, CADD 12.50
- D35E (p.Asp35Glu), gnomAD 3-8733981-C-A, REVEL 0.53, ESM-1b 0.00
- I36V (p.Ile36Val), ExAC rs750257861, gnomAD rs750257861, REVEL 0.33, ESM-1b 0.00
- I36T (p.Ile36Thr), gnomAD 3-8733983-T-C, REVEL 0.59, ESM-1b 0.00
- I36R (p.Ile36Arg), gnomAD 3-8733983-T-G, REVEL 0.81, ESM-1b 0.00
- I36M (p.Ile36Met), gnomAD 3-8733984-A-G, REVEL 0.38, ESM-1b 0.00
- V37A (p.Val37Ala), rs886039060, ClinGen CA10587580, ClinVar RCV000248487, ClinVar RCV003532075, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- V37I (p.Val37Ile), rs374523166, ClinGen CA351661634, ClinVar RCV003324252, ESM-1b 0.00, AlphaMissense 0.53, Uncertain significance, not specified
- V37L (p.Val37Leu), rs374523166, ClinGen CA223853, ClinVar RCV000477181, ClinVar RCV000723742, REVEL 0.54, ESM-1b 0.00, Uncertain significance, CAV3-related disorder; Cardiovascular phenotype; not specified
- V37V (p.Val37Val), gnomAD 3-8733987-C-A, CADD 11.40
- K38N (p.Lys38Asn), cosmic curated COSV10887, REVEL 0.74, ESM-1b 1.00
- K38Q (p.Lys38Gln), gnomAD 3-8733988-A-C, REVEL 0.69, ESM-1b 1.00
- V39G (p.Val39Gly), Ensembl rs1575477402, ESM-1b 1.00, AlphaMissense 0.76
- V39M (p.Val39Met), cosmic curated COSV57479, REVEL 0.74, ESM-1b 1.00, Uncertain significance, not provided
- V39V (p.Val39Val), rs753959620, gnomAD 3-8745528-G-A, CADD 16.10
- D40G (p.Asp40Gly), gnomAD 3-8745530-A-G, REVEL 0.76, ESM-1b 0.00
- F41F (p.Phe41Phe), rs13087941, gnomAD 3-8745534-T-C, CADD 0.91
- E42A (p.Glu42Ala), rs137901165, ClinGen CA2236324, ClinVar RCV000472187, ClinVar RCV000598341, REVEL 0.89, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2
- E42K (p.Glu42Lys), cosmic curated COSV57478, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Long QT syndrome
- D43E (p.Asp43Glu), 1000Genomes rs374584030, ESP rs374584030, ExAC rs374584030, TOPMed rs374584030, REVEL 0.69, ESM-1b 0.27, Likely benign
- D43G (p.Asp43Gly), rs1559654264, ClinGen CA351663141, ClinVar RCV003990627, ESM-1b 1.00, AlphaMissense 0.96, Likely pathogenic, Rippling muscle disease 2
- D43V (p.Asp43Val), rs1559654264, ClinGen CA351663142, ClinVar RCV000702459, ClinVar RCV004777849, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance, not provided; Long QT syndrome
- D43D (p.Asp43Asp), rs374584030, gnomAD 3-8745540-C-T, CADD 0.60
- V44A (p.Val44Ala), rs116840788, ClinGen CA351663147, ClinVar RCV001071606, ClinVar RCV006666743, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- V44E (p.Val44Glu), rs116840788, ClinGen CA215190, ClinVar RCV000024418, UniProt VAR 021017, ESM-1b 1.00, AlphaMissense 0.99, not provided
- V44M (p.Val44Met), rs1341523879, ClinGen CA351663144, cosmic curated COSV57480, ClinVar RCV001054902, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Long QT syndrome
- V44V (p.Val44Val), rs372754279, gnomAD 3-8745543-G-C, CADD 5.48
- I45N (p.Ile45Asn), rs1553614409, ClinGen CA351663152, ClinVar RCV000594467, ClinVar RCV002465735, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, not provided; Elevated circulating creatine kinase activity
- I45V (p.Ile45Val), rs1708128320, ClinGen CA351663150, ClinVar RCV001049928, Ensembl rs1708128320, REVEL 0.78, ESM-1b 0.00, Uncertain significance, Long QT syndrome
- I45I (p.Ile45Ile), rs115593543, gnomAD 3-8745546-C-T, CADD 0.11
- A46E (p.Ala46Glu), rs116840773, ClinGen CA215204, ClinVar RCV000024424, Ensembl rs116840773, ESM-1b 0.95, AlphaMissense 0.98, not provided
- A46S (p.Ala46Ser), rs116840789, ClinGen CA215243, ClinVar RCV000024440, Ensembl rs116840789, ESM-1b 0.00, AlphaMissense 0.57, not provided
- A46T (p.Ala46Thr), rs116840789, ClinGen CA119428, NCI-TCGA Cosmic COSV5748, cosmic curated COSV57481, REVEL 0.92, ESM-1b 0.32, Pathogenic/Likely pathogenic, Myopathy with tubular aggregates; Cardiovascular phenotype; not provided
- A46V (p.Ala46Val), rs116840773, ClinGen CA119431, ClinVar RCV000008775, ClinVar RCV000024383, ESM-1b 0.00, AlphaMissense 0.98, Likely pathogenic, not provided
- E47A (p.Glu47Ala), rs199476327, ClinGen CA215230, ClinVar RCV000024435, Ensembl rs199476327, ESM-1b 1.00, AlphaMissense 0.98, not provided
- E47D (p.Glu47Asp), rs199476328, ClinGen CA215233, ClinVar RCV000024436, Ensembl rs199476328, ESM-1b 0.32, AlphaMissense 1.00, not provided
- E47G (p.Glu47Gly), rs199476327, ClinGen CA351663160, ClinVar RCV002829266, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, Long QT syndrome
- E47K (p.Glu47Lys), rs116840793, ClinGen CA119449, ClinVar RCV000008787, ClinVar RCV000024416, ESM-1b 1.00, AlphaMissense 0.98, Conflicting interpretations, not provided; CAV3-related disorder
- P48A (p.Pro48Ala), Ensembl rs996212719, REVEL 0.89, ESM-1b 1.00
- P48L (p.Pro48Leu), TOPMed rs1060502317, gnomAD rs1060502317, REVEL 0.88, ESM-1b 1.00, Uncertain significance
- P48R (p.Pro48Arg), rs1060502317, ClinGen CA16611375, ClinVar RCV000465194, ClinVar RCV002393131, REVEL 0.89, ESM-1b 1.00, Uncertain significance, Elevated circulating creatine kinase activity; Distal myopathy, Tateyama type; R
- P48S (p.Pro48Ser), cosmic curated COSV57480, REVEL 0.89, ESM-1b 1.00
- P48P (p.Pro48Pro), rs149287333, gnomAD 3-8745555-T-C, CADD 0.06
- V49A (p.Val49Ala), rs2470061912, ClinGen CA351663170, ClinVar RCV002850925, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Long QT syndrome
- V49L (p.Val49Leu), Ensembl rs748266940, REVEL 0.46, ESM-1b 0.00
- V49M (p.Val49Met), gnomAD 3-8745556-G-A, REVEL 0.43, ESM-1b 0.00
- V49V (p.Val49Val), rs777363173, gnomAD 3-8745558-G-A, CADD 7.34
- G50S (p.Gly50Ser), gnomAD 3-8745559-G-A, REVEL 0.79, ESM-1b 0.00
- G50D (p.Gly50Asp), gnomAD 3-8745560-G-A, REVEL 0.87, ESM-1b 1.00
- G50G (p.Gly50Gly), gnomAD 3-8745561-C-T, CADD 7.44
- T51I (p.Thr51Ile), rs1708129603, ClinGen CA351663181, ClinVar RCV001978237, ClinVar RCV003490996, ESM-1b 1.00, AlphaMissense 0.40, Uncertain significance, not provided; Long QT syndrome
- T51P (p.Thr51Pro), cosmic curated COSV10515, REVEL 0.89, ESM-1b 1.00
- T51T (p.Thr51Thr), rs375087776, gnomAD 3-8745564-C-G, CADD 8.69
- Y52H (p.Tyr52His), cosmic curated COSV57478, REVEL 0.37, ESM-1b 0.00
- S53G (p.Ser53Gly), rs116840794, ClinGen CA215193, ClinVar RCV000024419, UniProt VAR 029541, ESM-1b 1.00, AlphaMissense 0.68, not provided
- S53N (p.Ser53Asn), rs199476326, ClinGen CA215215, ClinVar RCV000024429, Ensembl rs199476326, ESM-1b 1.00, AlphaMissense 0.99, not provided
- S53R (p.Ser53Arg), rs116840794, ClinGen CA351663192, ClinVar RCV003648732, ClinVar RCV006449171, ESM-1b 1.00, AlphaMissense 0.68, Uncertain significance, Long QT syndrome; not provided
- F54C (p.Phe54Cys), TOPMed rs1708130115, gnomAD rs1708130115, REVEL 0.90, ESM-1b 1.00
- F54L (p.Phe54Leu), rs1708130193, ClinGen CA351663204, ClinVar RCV002401267, ClinVar RCV006693156, REVEL 0.54, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; not specified
- F54V (p.Phe54Val), rs730880419, ClinGen CA295935, ClinVar RCV002785678, ExAC rs730880419, REVEL 0.76, ESM-1b 1.00, Uncertain significance, Long QT syndrome
- F54F (p.Phe54Phe), gnomAD 3-8745573-T-C, CADD 6.80
- D55E (p.Asp55Glu), rs759446749, ClinGen CA351663210, ClinVar RCV001340756, ClinVar RCV001796985, REVEL 0.71, ESM-1b 0.56, Uncertain significance, not provided; Long QT syndrome; Caveolinopathy
- D55G (p.Asp55Gly), rs2470061980, ClinGen CA351663208, ClinVar RCV003177586, cosmic curated COSV10967, ESM-1b 1.00, AlphaMissense 0.82, Uncertain significance, Cardiovascular phenotype
- D55N (p.Asp55Asn), rs774007619, ClinGen CA351663205, ClinVar RCV003121383, ExAC rs774007619, REVEL 0.85, ESM-1b 1.00, Uncertain significance, Long QT syndrome
- D55Y (p.Asp55Tyr), cosmic curated COSV57480, ExAC rs774007619, TOPMed rs774007619, gnomAD rs774007619, REVEL 0.96, ESM-1b 1.00, Uncertain significance
- D55D (p.Asp55Asp), rs759446749, gnomAD 3-8745576-C-T, CADD 1.97
- G56S (p.Gly56Ser), rs72546667, ClinGen CA119422, cosmic curated COSV57481, ClinVar RCV000008768, REVEL 0.73, ESM-1b 0.00, Benign/Likely benign, Cardiovascular phenotype; Distal myopathy, Tateyama type; Elevated circulating c
- G56G (p.Gly56Gly), rs116840774, gnomAD 3-8745579-C-T, CADD 2.60
- V57G (p.Val57Gly), rs199476329, ClinGen CA215169, ClinVar RCV000024405, Ensembl rs199476329, ESM-1b 1.00, AlphaMissense 0.86, not provided
- V57M (p.Val57Met), rs116840795, ClinGen CA215150, NCI-TCGA Cosmic COSV5748, cosmic curated COSV57480, REVEL 0.93, ESM-1b 1.00, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- V57V (p.Val57Val), rs61147808, gnomAD 3-8745582-G-A, CADD 8.55
- W58* (p.Trp58Ter), cosmic curated COSV10641
- W58G (p.Trp58Gly), rs199476330, ClinGen CA16611550, ClinVar RCV000469969, gnomAD rs199476330, REVEL 0.97, ESM-1b 1.00, Uncertain significance, Long QT syndrome
- W58R (p.Trp58Arg), rs199476330, ClinGen CA215199, ClinVar RCV000024421, gnomAD rs199476330, ESM-1b 1.00, AlphaMissense 0.98, not provided
- K59N (p.Lys59Asn), rs1708131659, ClinGen CA351663234, ClinVar RCV001368688, Ensembl rs1708131659, ESM-1b 1.00, AlphaMissense 0.91, Uncertain significance, Long QT syndrome
- K59T (p.Lys59Thr), Ensembl rs1575477552, REVEL 0.78, ESM-1b 1.00
Public CAV3 analysis runs
- CAV3 analysis run — CAV3 (445 variants) — completed 2026-10-09