RYR3 (Ryanodine receptor 3) variants and mutations
RYR3 (also known as Ryanodine receptor 3) is a human protein-coding gene encoding a ryanodine receptor 3 protein. An intracellular calcium-release channel that opens in response to calcium and releases more calcium from the endoplasmic or sarcoplasmic reticulum. This calcium-induced calcium release contributes to muscle contraction and broader calcium signaling in non-muscle cells. This analysis covers 4,931 RYR3 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes congenital myopathy 20, Fever, and stroke disorder. Example RYR3 variants include A2T, A2V, and A2D.
Variant analysis overview
- Gene: RYR3
- Protein: Ryanodine receptor 3
- UniProt accession: Q15413
- Organism: Homo sapiens
- Variants analyzed: 4931
- Variant scope: all variants
- Completed: 2026-07-08
Variant and mutation evidence
- Variant composition: 4,781 unspecified-consequence records; 70 missense variants; 63 synonymous variants; 4 stop-gained variants; 7 frameshift variants; 4 splice-region variants; 2 in-frame deletions
- Prediction scores: 4,778 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: congenital myopathy 20, Fever, stroke disorder, multiple sclerosis, neurodegenerative disease, nemaline myopathy, Malignant hyperthermia, Spasticity, cerebral palsy, spinal cord injury, hydrops fetalis, pyogenic granuloma.
Protein structure and variant hotspots
- Protein features: 7 transmembrane segments; 8 domains.
- Structural context: 1,034 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, PharmGKB, MaveDB, LitVar.
Notable RYR3 variants
Examples include A2T, A2V, A2D, A2A, E3D, E3*, E3K, E3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2T (p.Ala2Thr), gnomAD 15-33311049-G-A, MetaLR 0.92, MetaSVM 0.38
- A2V (p.Ala2Val), gnomAD 15-33311050-C-T, MetaLR 0.93, MetaSVM 0.43
- A2D (p.Ala2Asp), gnomAD 15-33311050-C-A, MetaLR 0.93, MetaSVM 0.42
- A2A (p.Ala2Ala), gnomAD 15-33311051-C-A, CADD 15.30
- E3D (p.Glu3Asp), ESP rs372728963, ExAC rs372728963, TOPMed rs372728963, gnomAD rs372728963, MetaLR 0.80, MetaSVM 0.21
- E3* (p.Glu3Ter), gnomAD 15-33311052-G-T, CADD 43.00
- E3K (p.Glu3Lys), gnomAD 15-33311052-G-A, MetaLR 0.92, MetaSVM 1.10
- E3E (p.Glu3Glu), rs372728963, gnomAD 15-33311054-A-G, CADD 16.70
- G4A (p.Gly4Ala), rs375998723, ClinGen CA7457630, ClinVar RCV001063110, ClinVar RCV003492216, MetaLR 0.78, MetaSVM -0.10, Conflicting interpretations, not specified; Congenital myopathy 20; Epileptic encephalopathy
- G4E (p.Gly4Glu), cosmic curated COSV66802, ESP rs375998723, ExAC rs375998723, TOPMed rs375998723, MetaLR 0.80, MetaSVM -0.02, Uncertain significance, not specified
- G4R (p.Gly4Arg), Ensembl rs1595668172, MetaLR 0.85, MetaSVM 0.03
- G4V (p.Gly4Val), ESP rs375998723, ExAC rs375998723, TOPMed rs375998723, gnomAD rs375998723, MetaLR 0.82, MetaSVM -0.09, Uncertain significance, not specified
- G4W (p.Gly4Trp), gnomAD 15-33311055-G-T, MetaLR 0.84, MetaSVM 0.20
- G5A (p.Gly5Ala), ExAC rs771419772, TOPMed rs771419772, gnomAD rs771419772, MetaLR 0.78, MetaSVM 0.30, Uncertain significance
- G5E (p.Gly5Glu), rs771419772, ClinGen CA391916622, ClinVar RCV001303620, ExAC rs771419772, MetaLR 0.84, MetaSVM 0.68, Uncertain significance, Epileptic encephalopathy
- G5R (p.Gly5Arg), rs763416818, ExAC rs763416818, TOPMed rs763416818, gnomAD rs763416818, MetaLR 0.88, MetaSVM 1.02, Uncertain significance, Epileptic encephalopathy
- G5V (p.Gly5Val), ExAC rs771419772, TOPMed rs771419772, gnomAD rs771419772, MetaLR 0.85, MetaSVM 0.75, Uncertain significance
- G5* (p.Gly5Ter), gnomAD 15-33311058-G-T, CADD 40.00
- G5G (p.Gly5Gly), rs1453652852, gnomAD 15-33311060-A-G, CADD 18.50
- E6* (p.Glu6Ter), Ensembl rs12912656
- E6G (p.Glu6Gly), rs562147027, ClinGen CA7457634, ClinVar RCV001429156, ClinVar RCV004025506, MetaLR 0.76, MetaSVM 0.66, Conflicting interpretations, not specified; Epileptic encephalopathy
- E6K (p.Glu6Lys), gnomAD 15-33311061-G-A, MetaLR 0.81, MetaSVM 0.88
- E6E (p.Glu6Glu), rs760060054, gnomAD 15-33311063-A-G, CADD 17.60
- G7R (p.Gly7Arg), rs763701721, NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6680, cosmic curated COSV66803, MetaLR 0.91, MetaSVM 0.34, Uncertain significance, not specified
- G7G (p.Gly7Gly), gnomAD 15-33311066-A-C, CADD 14.60
- G8D (p.Gly8Asp), rs534586557, ClinGen CA268881109, ClinVar RCV004447203, TOPMed rs534586557, MetaLR 0.87, MetaSVM 0.31, Uncertain significance, not specified
- G8S (p.Gly8Ser), gnomAD 15-33311067-G-A, MetaLR 0.83, MetaSVM 0.04
- G8G (p.Gly8Gly), rs552810915, gnomAD 15-33311069-C-G, CADD 16.20
- E9D (p.Glu9Asp), ExAC rs753357260, TOPMed rs753357260, gnomAD rs753357260, MetaLR 0.85, MetaSVM 0.40
- E9K (p.Glu9Lys), gnomAD 15-33311070-G-A, MetaLR 0.92, MetaSVM 1.14
- E9E (p.Glu9Glu), rs753357260, gnomAD 15-33311072-G-A, CADD 12.10
- D10E (p.Asp10Glu), rs761390620, ClinGen CA7457638, ClinVar RCV000800449, ClinVar RCV002067392, MetaLR 0.85, MetaSVM 0.39, Uncertain significance, Epileptic encephalopathy; not provided
- D10N (p.Asp10Asn), gnomAD rs1165107449, MetaLR 0.93, MetaSVM 0.69
- D10Y (p.Asp10Tyr), cosmic curated COSV66783, gnomAD rs1165107449, MetaLR 0.94, MetaSVM 0.72
- D10D (p.Asp10Asp), rs761390620, gnomAD 15-33311075-C-T, CADD 15.30
- E11K (p.Glu11Lys), cosmic curated COSV10532, TOPMed rs1967171969, gnomAD rs1967171969, MetaLR 0.96, MetaSVM 0.87
- E11G (p.Glu11Gly), gnomAD 15-33311077-A-G, MetaLR 0.96, MetaSVM 0.84
- E11E (p.Glu11Glu), rs764985450, gnomAD 15-33311078-G-A, CADD 14.70
- I12M (p.Ile12Met), TOPMed rs914652980, gnomAD rs914652980, MetaLR 0.94, MetaSVM 0.55
- Q13S (p.Gln13Ser), gnomAD 15-33311080-TC-T, CADD 33.00
- Q13Q (p.Gln13Gln), rs750010491, gnomAD 15-33311084-G-A, CADD 15.40
- F14F (p.Phe14Phe), gnomAD 15-33311087-T-C, CADD 15.20
- L15L (p.Leu15Leu), gnomAD 15-33311090-G-T, CADD 18.50
- R16K (p.Arg16Lys), 1000Genomes rs574220880, ExAC rs574220880, TOPMed rs574220880, gnomAD rs574220880, MetaLR 0.91, MetaSVM 0.89
- R16M (p.Arg16Met), 1000Genomes rs574220880, ExAC rs574220880, TOPMed rs574220880, gnomAD rs574220880, MetaLR 0.92, MetaSVM 0.84
- R16S (p.Arg16Ser), TOPMed rs1432081207, gnomAD rs1432081207, MetaLR 0.89, MetaSVM 0.70
- R16R (p.Arg16Arg), rs1595668424, gnomAD 15-33311091-A-C, CADD 15.80
- T17I (p.Thr17Ile), rs1291166318, NCI-TCGA Cosmic COSV6681, cosmic curated COSV66811, gnomAD rs1291166318, AlphaMissense 0.96, MetaLR 0.90, Variant assessed as somatic; moderate impact.
- T17T (p.Thr17Thr), gnomAD 15-33311096-T-C, CADD 18.00
- E18A (p.Glu18Ala), Ensembl rs2142228035, MetaLR 0.87, MetaSVM 0.87
- E18D (p.Glu18Asp), gnomAD 15-33473420-A-ACC, CADD 28.40
- D19R (p.Asp19Arg), gnomAD 15-33473421-G-GA, CADD 32.00
- D19D (p.Asp19Asp), rs752692253, gnomAD 15-33473424-T-C, CADD 10.50
- E20D (p.Glu20Asp), cosmic curated COSV66795, ExAC rs755936109, TOPMed rs755936109, gnomAD rs755936109, MetaLR 0.93, MetaSVM 0.86
- V21A (p.Val21Ala), gnomAD 15-33473429-T-C, MetaLR 0.97, MetaSVM 1.09
- L23F (p.Leu23Phe), gnomAD rs1373943689, MetaLR 0.98, MetaSVM 1.08
- L23L (p.Leu23Leu), rs764265026, gnomAD 15-33473436-C-T, CADD 6.77
- Q24R (p.Gln24Arg), TOPMed rs1350037192, MetaLR 0.95, MetaSVM 1.09
- p.Gln24 Ile26delinsHis, gnomAD 15-33473438-AGTGC, CADD 19.70
- Q24Q (p.Gln24Gln), rs1161612308, gnomAD 15-33473439-G-A, CADD 7.72
- C25R (p.Cys25Arg), ExAC rs753918907, gnomAD rs753918907, MetaLR 0.97, MetaSVM 1.10
- C25W (p.Cys25Trp), TOPMed rs1390740989, gnomAD rs1390740989, MetaLR 0.95, MetaSVM 1.03
- C25Y (p.Cys25Tyr), gnomAD rs1462227309, MetaLR 0.97, MetaSVM 1.10
- I26F (p.Ile26Phe), Ensembl rs1567315750, MetaLR 0.81, MetaSVM 0.66
- I26L (p.Ile26Leu), Ensembl rs1567315750, MetaLR 0.77, MetaSVM 0.00
- I26V (p.Ile26Val), gnomAD 15-33473443-A-G, MetaLR 0.65, MetaSVM -0.23
- I26I (p.Ile26Ile), rs199968653, gnomAD 15-33473445-C-A, CADD 1.76
- A27D (p.Ala27Asp), rs374964000, ClinGen CA7457695, ClinVar RCV001236865, ESP rs374964000, MetaLR 0.95, MetaSVM 1.10, Uncertain significance, Epileptic encephalopathy
- A27T (p.Ala27Thr), rs201612485, ClinGen CA7457694, NCI-TCGA Cosmic COSV6678, cosmic curated COSV66780, MetaLR 0.88, MetaSVM 0.81, Uncertain significance, Epileptic encephalopathy
- A27S (p.Ala27Ser), gnomAD 15-33473446-G-T, MetaLR 0.90, MetaSVM 0.86
- A27V (p.Ala27Val), gnomAD 15-33473447-C-T, MetaLR 0.91, MetaSVM 1.05
- T28P (p.Thr28Pro), ExAC rs780220169, TOPMed rs780220169, gnomAD rs780220169, MetaLR 0.90, MetaSVM 0.62
- T28T (p.Thr28Thr), rs747585286, gnomAD 15-33473451-C-T, CADD 2.07
- I29L (p.Ile29Leu), TOPMed rs1008629390, gnomAD rs1008629390, MetaLR 0.87, MetaSVM 0.26
- H30Q (p.His30Gln), rs1335066924, TOPMed rs1335066924, gnomAD rs1335066924, MetaLR 0.72, MetaSVM 0.06, Variant assessed as somatic; moderate impact.
- H30R (p.His30Arg), cosmic curated COSV66807, ExAC rs768998998, TOPMed rs768998998, gnomAD rs768998998, MetaLR 0.78, MetaSVM 0.50
- H30P (p.His30Pro), gnomAD 15-33473456-A-C, MetaLR 0.88, MetaSVM 0.86
- K31E (p.Lys31Glu), cosmic curated COSV10443, ExAC rs777177685, gnomAD rs777177685, MetaLR 0.89, MetaSVM 0.88
- K31N (p.Lys31Asn), gnomAD 15-33473460-G-T, MetaLR 0.88, MetaSVM 0.81
- E32E (p.Glu32Glu), gnomAD 15-33473463-G-A, CADD 6.50
- R34K (p.Arg34Lys), Ensembl rs2049108793
- R34W (p.Arg34Trp), gnomAD rs1265670474, MetaLR 0.89, MetaSVM 0.83
- R34G (p.Arg34Gly), gnomAD 15-33473467-A-G, MetaLR 0.87, MetaSVM 0.74
- F36L (p.Phe36Leu), gnomAD 15-33473473-T-C, MetaLR 0.85, MetaSVM 0.66
- C37F (p.Cys37Phe), gnomAD rs1335719597, MetaLR 0.95, MetaSVM 1.08
- C37C (p.Cys37Cys), gnomAD 15-33473478-C-T, CADD 11.50
- L38L (p.Leu38Leu), gnomAD 15-33473479-C-T, CADD 8.71
- A39P (p.Ala39Pro), gnomAD 15-33473482-G-C, MetaLR 0.96, MetaSVM 1.10
- A39V (p.Ala39Val), gnomAD 15-33473483-C-T, MetaLR 0.96, MetaSVM 1.10
- A39A (p.Ala39Ala), rs367732646, gnomAD 15-33473484-A-T, CADD 7.71
- A40A (p.Ala40Ala), rs1596294514, gnomAD 15-33473487-C-T, CADD 2.53
- E41* (p.Glu41Ter), TOPMed rs1383625599, gnomAD rs1383625599, CADD 41.00
- E41K (p.Glu41Lys), NCI-TCGA Cosmic COSV6680, cosmic curated COSV66805, TOPMed rs1383625599, gnomAD rs1383625599, MetaLR 0.95, MetaSVM 1.10, Variant assessed as somatic; moderate impact.
- E41Q (p.Glu41Gln), TOPMed rs1383625599, gnomAD rs1383625599, MetaLR 0.96, MetaSVM 1.10
- G42V (p.Gly42Val), Ensembl rs2049110755, MetaLR 0.98, MetaSVM 1.05
- L43R (p.Leu43Arg), gnomAD 15-33473495-T-G, MetaLR 0.96, MetaSVM 1.10
- L43L (p.Leu43Leu), rs1349358283, gnomAD 15-33473496-T-G, CADD 7.94
- G44G (p.Gly44Gly), rs748837070, gnomAD 15-33473499-G-A, CADD 8.43
- R46C (p.Arg46Cys), rs770423247, ClinGen CA7457701, NCI-TCGA Cosmic COSV6680, cosmic curated COSV66808, MetaLR 0.96, MetaSVM 1.08, Uncertain significance, not specified
- R46H (p.Arg46His), rs774050928, ClinGen CA7457702, NCI-TCGA Cosmic COSV6677, cosmic curated COSV66776, MetaLR 0.96, MetaSVM 1.10, Uncertain significance, not specified; Epileptic encephalopathy
- R46S (p.Arg46Ser), ExAC rs770423247, TOPMed rs770423247, gnomAD rs770423247, MetaLR 0.95, MetaSVM 1.05, Uncertain significance
- R46R (p.Arg46Arg), gnomAD 15-33473505-C-T, CADD 11.60
- L47L (p.Leu47Leu), gnomAD 15-33473508-G-A, CADD 8.76
- C48S (p.Cys48Ser), gnomAD 15-33473509-T-A, MetaLR 0.97, MetaSVM 1.09
- F49I (p.Phe49Ile), gnomAD 15-33473512-T-A, MetaLR 0.87, MetaSVM 0.84
- F49F (p.Phe49Phe), rs80182654, gnomAD 15-33473514-C-T, CADD 11.60
- F49L (p.Phe49Leu), gnomAD 15-33473514-C-G, MetaLR 0.85, MetaSVM 0.76
- L50S (p.Leu50Ser), gnomAD rs1311890024, MetaLR 0.97, MetaSVM 1.10
- L50L (p.Leu50Leu), gnomAD 15-33473515-T-C, CADD 8.60
- L50W (p.Leu50Trp), gnomAD 15-33473516-T-G, MetaLR 0.96, MetaSVM 1.10
- P52A (p.Pro52Ala), Ensembl rs2049113662, MetaLR 0.95, MetaSVM 1.07
- P52R (p.Pro52Arg), gnomAD rs1257308154, MetaLR 0.95, MetaSVM 1.04
- P52P (p.Pro52Pro), rs2049114234, gnomAD 15-33473523-C-T, CADD 8.61
- T53I (p.Thr53Ile), Ensembl rs2049114496, MetaLR 0.91, MetaSVM 0.86
- T53S (p.Thr53Ser), gnomAD 15-33473525-C-G, MetaLR 0.94, MetaSVM 1.07
- S54A (p.Ser54Ala), rs771903948, ClinGen CA7457704, ClinVar RCV000686918, ClinVar RCV005268710, MetaLR 0.89, MetaSVM 0.81, Uncertain significance, not specified; Epileptic encephalopathy
- S54L (p.Ser54Leu), rs372207437, ClinGen CA7457705, ClinVar RCV001361822, ClinVar RCV003761205, MetaLR 0.95, MetaSVM 1.10, Uncertain significance, Epileptic encephalopathy; Congenital myopathy 20
- S54S (p.Ser54Ser), gnomAD 15-33473529-A-G, CADD 11.30
- E55F (p.Glu55Phe), gnomAD 15-33473528-C-CTT, CADD 32.00
- A56A (p.Ala56Ala), gnomAD 15-33473535-C-T, CADD 12.30
- K57N (p.Lys57Asn), Ensembl rs2049115778, MetaLR 0.94, MetaSVM 0.94
- K57T (p.Lys57Thr), gnomAD rs1167402707, MetaLR 0.95, MetaSVM 1.09
- K57R (p.Lys57Arg), gnomAD 15-33473537-A-G, MetaLR 0.93, MetaSVM 1.01
- K57K (p.Lys57Lys), gnomAD 15-33473538-G-A, CADD 24.10
- Y58C (p.Tyr58Cys), cosmic curated COSV10749, Ensembl rs866336594, MetaLR 0.91, MetaSVM 0.72
- Y58H (p.Tyr58His), gnomAD 15-33503631-T-C, MetaLR 0.93, MetaSVM 0.99
- Y58* (p.Tyr58Ter), gnomAD 15-33503633-C-A, CADD 35.00
- I59V (p.Ile59Val), ExAC rs776764204, TOPMed rs776764204, gnomAD rs776764204, MetaLR 0.53, MetaSVM -0.13
- P60A (p.Pro60Ala), rs1395303451, ClinGen CA391567016, ClinVar RCV001371975, gnomAD rs1395303451, MetaLR 0.97, MetaSVM 1.09, Uncertain significance, Epileptic encephalopathy
- P60S (p.Pro60Ser), gnomAD rs1395303451, MetaLR 0.97, MetaSVM 1.09, Uncertain significance
- P60T (p.Pro60Thr), gnomAD 15-33503637-C-A, MetaLR 0.97, MetaSVM 1.09
- P60H (p.Pro60His), gnomAD 15-33503638-C-A, MetaLR 0.97, MetaSVM 1.09
- P61S (p.Pro61Ser), gnomAD 15-33503640-C-T, MetaLR 0.99, MetaSVM 0.96
- P61Q (p.Pro61Gln), gnomAD 15-33503641-C-A, MetaLR 0.99, MetaSVM 0.97
- D62E (p.Asp62Glu), TOPMed rs1461557248, gnomAD rs1461557248, MetaLR 0.93, MetaSVM 1.00
- L63I (p.Leu63Ile), gnomAD 15-33503646-C-A, MetaLR 0.95, MetaSVM 1.04
- L63P (p.Leu63Pro), gnomAD 15-33503647-T-C, MetaLR 0.96, MetaSVM 1.10
- L63L (p.Leu63Leu), rs2052203761, gnomAD 15-33503648-C-T, CADD 8.58
- C64Y (p.Cys64Tyr), rs761781474, ClinGen CA7457728, ClinVar RCV001071177, ExAC rs761781474, MetaLR 0.92, MetaSVM 0.92, Uncertain significance, Epileptic encephalopathy
- C64S (p.Cys64Ser), gnomAD 15-33503650-G-C, MetaLR 0.78, MetaSVM 0.53
- C64C (p.Cys64Cys), rs769694918, gnomAD 15-33503651-C-T, CADD 6.62
- C64* (p.Cys64Ter), gnomAD 15-33503651-C-A, CADD 34.00
- V65I (p.Val65Ile), rs572913737, ClinGen CA7457729, cosmic curated COSV66776, ClinVar RCV001298476, MetaLR 0.63, MetaSVM 0.11, Uncertain significance, not specified; Epileptic encephalopathy
- V65G (p.Val65Gly), gnomAD 15-33503653-T-G, MetaLR 0.85, MetaSVM 0.79
- C66S (p.Cys66Ser), TOPMed rs1478784274, gnomAD rs1478784274, MetaLR 0.97, MetaSVM 1.09
- N67S (p.Asn67Ser), ESP rs369324822, ExAC rs369324822, TOPMed rs369324822, gnomAD rs369324822, MetaLR 0.80, MetaSVM 0.23
- N67Y (p.Asn67Tyr), gnomAD 15-33503658-A-T, MetaLR 0.91, MetaSVM 0.96
- N67T (p.Asn67Thr), gnomAD 15-33503659-A-C, MetaLR 0.68, MetaSVM -0.08
- N67N (p.Asn67Asn), gnomAD 15-33503660-T-C, CADD 9.07
- F68L (p.Phe68Leu), gnomAD 15-33503663-T-A, MetaLR 0.95, MetaSVM 1.00
- V69L (p.Val69Leu), ExAC rs763070160, TOPMed rs763070160, gnomAD rs763070160, MetaLR 0.95, MetaSVM 1.10
- V69M (p.Val69Met), gnomAD 15-33503664-G-A, MetaLR 0.96, MetaSVM 1.10
- L70M (p.Leu70Met), rs766554588, ExAC rs766554588, gnomAD rs766554588, MetaLR 0.96, MetaSVM 1.08, Variant assessed as somatic; moderate impact.
- L70L (p.Leu70Leu), rs766554588, gnomAD 15-33503667-C-T, CADD 9.99
- E71K (p.Glu71Lys), TOPMed rs1485792606, gnomAD rs1485792606, MetaLR 0.96, MetaSVM 1.06
- Q72E (p.Gln72Glu), ExAC rs751801822, TOPMed rs751801822, gnomAD rs751801822, MetaLR 0.96, MetaSVM 1.10
- Q72P (p.Gln72Pro), gnomAD 15-33503674-A-C, MetaLR 0.94, MetaSVM 1.08
- Q72R (p.Gln72Arg), gnomAD 15-33503674-A-G, MetaLR 0.95, MetaSVM 1.06
- Q72Q (p.Gln72Gln), gnomAD 15-33503675-G-A, CADD 8.75
- S73C (p.Ser73Cys), Ensembl rs2142758143
- S73P (p.Ser73Pro), ExAC rs755357126, TOPMed rs755357126, gnomAD rs755357126, MetaLR 0.95, MetaSVM 1.09
- S73A (p.Ser73Ala), gnomAD 15-33503676-T-G, MetaLR 0.89, MetaSVM 0.72
- L74P (p.Leu74Pro), Ensembl rs2142758168, MetaLR 0.96, MetaSVM 1.10
- L74V (p.Leu74Val), gnomAD 15-33503679-C-G, MetaLR 0.94, MetaSVM 1.02
- L74L (p.Leu74Leu), rs781479912, gnomAD 15-33503681-A-G, CADD 2.74
- S75C (p.Ser75Cys), TOPMed rs2052206623
- S75T (p.Ser75Thr), gnomAD 15-33503682-T-A, MetaLR 0.97, MetaSVM 1.10
- S75S (p.Ser75Ser), gnomAD 15-33503684-T-A, CADD 10.60
- V76A (p.Val76Ala), gnomAD rs1165622009, MetaLR 0.95, MetaSVM 1.09
- V76F (p.Val76Phe), TOPMed rs1196648417, gnomAD rs1196648417, MetaLR 0.96, MetaSVM 1.09
- V76V (p.Val76Val), rs2052207586, gnomAD 15-33503687-C-T, CADD 9.84
- A78T (p.Ala78Thr), gnomAD 15-33503691-G-A, MetaLR 0.98, MetaSVM 1.09
- A78S (p.Ala78Ser), gnomAD 15-33503691-G-T, MetaLR 0.98, MetaSVM 1.09
- A78G (p.Ala78Gly), gnomAD 15-33503692-C-G, MetaLR 0.97, MetaSVM 1.10
- A78A (p.Ala78Ala), rs776514533, gnomAD 15-33503693-C-A, CADD 9.77
- L79L (p.Leu79Leu), gnomAD 15-33503696-G-A, CADD 6.88
- Q80P (p.Gln80Pro), TOPMed rs2052208073, gnomAD rs2052208073, MetaLR 0.95, MetaSVM 1.10
- E81D (p.Glu81Asp), gnomAD 15-33503702-A-C, MetaLR 0.96, MetaSVM 1.05
- M82C (p.Met82Cys), gnomAD 15-33503700-GA-G, CADD 29.40
- M82I (p.Met82Ile), gnomAD 15-33503705-G-A, MetaLR 0.95, MetaSVM 1.09
Public RYR3 analysis runs
- RYR3 analysis run — RYR3 (4,931 variants) — completed 2026-07-08