RYR1 (Ryanodine receptor 1) variants and mutations
RYR1 (also known as Ryanodine receptor 1) is a human protein-coding gene encoding a ryanodine receptor 1 protein. It releases calcium from the skeletal-muscle sarcoplasmic reticulum when Cav1.1 senses membrane depolarization, directly coupling excitation to contraction. Pathogenic variants cause malignant-hyperthermia susceptibility and a broad spectrum of congenital RYR1-related myopathies. This analysis covers 7,713 RYR1 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes congenital multicore myopathy with external ophthalmoplegia, central core myopathy, and Central core disease. Example RYR1 variants include M1I, G2A, and G2D.
Variant analysis overview
- Gene: RYR1
- Protein: Ryanodine receptor 1
- UniProt accession: P21817
- Organism: Homo sapiens
- Variants analyzed: 7713
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 7,610 unspecified-consequence records; 37 missense variants; 55 synonymous variants; 2 in-frame insertions; 2 stop-gained variants; 3 splice-region variants; 1 in-frame deletions; 2 frameshift variants; 1 substitution
- Prediction scores: 5,669 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: congenital multicore myopathy with external ophthalmoplegia, central core myopathy, Central core disease, King-Denborough syndrome, malignant hyperthermia of anesthesia, RYR1-related myopathy, Malignant hyperthermia, myopathy, ryr1-related disorders, Minicore myopathy, congenital fiber-type disproportion myopathy, neuromuscular disease, congenital, with uniform type 1 fiber.
Protein structure and variant hotspots
- Protein features: 6 transmembrane segments; 9 domains; 7 binding sites; 8 post-translational modification sites.
- Structural context: 1,536 variants have structural context.
- PTM context: 15 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable RYR1 variants
Examples include M1I, G2A, G2D, D3N, D3D, A4S, A4T, A4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2513928864, ClinGen CA405668120, ClinVar RCV003130465, Uncertain significance, not provided
- G2A (p.Gly2Ala), rs886054378, ClinGen CA10642691, ClinVar RCV000324922, ClinVar RCV000331806, AlphaMissense 0.15, MetaLR 0.76, Uncertain significance
- G2D (p.Gly2Asp), Ensembl rs886054378, REVEL 0.47, AlphaMissense 0.15, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- D3N (p.Asp3Asn), gnomAD 19-38433836-G-A, REVEL 0.33, MetaLR 0.84
- D3D (p.Asp3Asp), gnomAD 19-38433838-C-T, CADD 11.10
- A4S (p.Ala4Ser), TOPMed rs1279692593
- A4T (p.Ala4Thr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, REVEL 0.40, MetaLR 0.78, Variant assessed as somatic; moderate impact.
- A4A (p.Ala4Ala), gnomAD 19-38433841-A-C, CADD 15.30
- E5K (p.Glu5Lys), Ensembl rs1972307450
- E5V (p.Glu5Val), NCI-TCGA Cosmic COSV6210, cosmic curated COSV62105, Variant assessed as somatic; moderate impact.
- E5E (p.Glu5Glu), rs1972307572, gnomAD 19-38433844-A-G, CADD 14.90
- G6D (p.Gly6Asp), TOPMed rs1218901600, gnomAD rs1218901600, REVEL 0.47, MetaLR 0.91
- G6S (p.Gly6Ser), gnomAD 19-38433845-G-A, REVEL 0.46, MetaLR 0.90
- E7Q (p.Glu7Gln), Ensembl rs1600608800
- E7E (p.Glu7Glu), gnomAD 19-38433850-A-G, CADD 13.40
- D8E (p.Asp8Glu), rs1331891798, ClinGen CA405668352, ClinVar RCV001752845, ClinVar RCV003388610, REVEL 0.47, MetaLR 0.68, Uncertain significance
- D8N (p.Asp8Asn), TOPMed rs1339626356
- p.Asp8dup, rs1568426053, gnomAD 19-38433850-A-AGA, CADD 21.50
- E9E (p.Glu9Glu), rs759868159, gnomAD 19-38433856-G-A, CADD 8.48
- E9D (p.Glu9Asp), gnomAD 19-38433856-G-C, REVEL 0.31, MetaLR 0.73
- Q11H (p.Gln11His), gnomAD rs1600608864, Uncertain significance, not provided
- Q11* (p.Gln11Ter), gnomAD 19-38433860-C-T, CADD 41.00
- Q11Q (p.Gln11Gln), rs1600608864, gnomAD 19-38433862-G-A, CADD 13.30
- p.Gln11 Phe12insValHis, gnomAD 19-38433862-G-GGT, CADD 22.10
- F12L (p.Phe12Leu), rs370115856, ClinGen CA308101671, ClinVar RCV003593095, ESP rs370115856, REVEL 0.70, MetaLR 0.88, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- F12I (p.Phe12Ile), gnomAD 19-38433863-T-A, REVEL 0.85, MetaLR 0.92
- F12F (p.Phe12Phe), rs2145288960, gnomAD 19-38433865-C-T, CADD 12.70
- L13R (p.Leu13Arg), rs193922744, ClinGen CA024414, ClinVar RCV000119614, ClinVar RCV001588945, AlphaMissense 0.91, MetaLR 0.98, Pathogenic, in MHS1
- L13V (p.Leu13Val), UniProt VAR 045694, Pathogenic, in CMYO1B
- L13Q (p.Leu13Gln), gnomAD 19-38433867-T-A, REVEL 0.78, MetaLR 0.98
- L13L (p.Leu13Leu), gnomAD 19-38433868-G-A, CADD 11.90
- R14W (p.Arg14Trp), rs200665559, ClinGen CA065548, cosmic curated COSV10061, ClinVar RCV003135857, REVEL 0.77, MetaLR 0.95, Uncertain significance, Malignant hyperthermia, susceptibility to, 1; not provided
- R14R (p.Arg14Arg), rs200665559, gnomAD 19-38433869-C-A, CADD 13.10
- T15A (p.Thr15Ala), ExAC rs775607650, gnomAD rs775607650, REVEL 0.77, MetaLR 0.93
- T15M (p.Thr15Met), ExAC rs762955465, gnomAD rs762955465, REVEL 0.80, MetaLR 0.95, Uncertain significance, RYR1-related disorder
- T15T (p.Thr15Thr), rs200117623, gnomAD 19-38433874-G-A, CADD 23.80
- D16G (p.Asp16Gly), rs2513956227, ClinGen CA405671307, ClinVar RCV002591878, Uncertain significance, RYR1-related disorder
- D16Y (p.Asp16Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D16E (p.Asp16Glu), gnomAD 19-38440747-C-A, REVEL 0.30, MetaLR 0.66
- D16D (p.Asp16Asp), rs750329137, gnomAD 19-38440747-C-T, CADD 0.15
- D17N (p.Asp17Asn), rs755878800, ClinGen CA066584, ClinVar RCV001044552, ClinVar RCV002290569, REVEL 0.75, MetaLR 0.97, Uncertain significance
- D17E (p.Asp17Glu), gnomAD 19-38440750-T-G, REVEL 0.61, MetaLR 0.96
- D17D (p.Asp17Asp), gnomAD 19-38440750-T-C, CADD 2.79
- E18K (p.Glu18Lys), TOPMed rs1248277493, gnomAD rs1248277493, REVEL 0.58, MetaLR 0.93, Uncertain significance, Malignant hyperthermia, susceptibility to, 1; not provided
- E18V (p.Glu18Val), gnomAD 19-38440752-A-T, REVEL 0.53, MetaLR 0.85
- E18E (p.Glu18Glu), rs1389217484, gnomAD 19-38440753-G-A, CADD 6.26
- V19A (p.Val19Ala), rs2513956289, ClinGen CA405671404, ClinVar RCV004013993, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- V20I (p.Val20Ile), rs913061393, ClinGen CA308106627, ClinVar RCV003988247, ClinVar RCV004006194, REVEL 0.58, MetaLR 0.95, Uncertain significance, not specified; Malignant hyperthermia, susceptibility to, 1
- V20V (p.Val20Val), rs766073662, gnomAD 19-38440759-C-T, CADD 7.01
- L21M (p.Leu21Met), gnomAD 19-38440760-C-A, REVEL 0.77, MetaLR 0.97
- L21L (p.Leu21Leu), gnomAD 19-38440762-G-T, CADD 6.14
- Q22H (p.Gln22His), ExAC rs753752475, TOPMed rs753752475, gnomAD rs753752475, REVEL 0.69, MetaLR 0.94, Uncertain significance, not provided
- Q22K (p.Gln22Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q22* (p.Gln22Ter), gnomAD 19-38440763-C-T, CADD 39.00
- Q22R (p.Gln22Arg), gnomAD 19-38440764-A-G, REVEL 0.78, MetaLR 0.94
- Q22Q (p.Gln22Gln), gnomAD 19-38440765-G-A, CADD 5.25
- C23G (p.Cys23Gly), gnomAD 19-38440766-T-G, REVEL 0.90, MetaLR 0.96
- C23R (p.Cys23Arg), gnomAD 19-38440766-T-C, REVEL 0.93, MetaLR 0.96
- C23C (p.Cys23Cys), rs2145320292, gnomAD 19-38440768-C-T, CADD 11.80
- S24A (p.Ser24Ala), rs2513956373, ClinGen CA2739276805, ClinVar RCV003758184, Pathogenic
- S24G (p.Ser24Gly), gnomAD rs1401823353
- S24T (p.Ser24Thr), gnomAD 19-38440770-G-C, REVEL 0.29, MetaLR 0.71
- S24S (p.Ser24Ser), rs754645461, gnomAD 19-38440771-C-T, CADD 2.15
- A25G (p.Ala25Gly), TOPMed rs1349001916, gnomAD rs1349001916, REVEL 0.87, MetaLR 0.96
- A25P (p.Ala25Pro), ExAC rs778758225, TOPMed rs778758225, gnomAD rs778758225, REVEL 0.86, MetaLR 0.95, Uncertain significance, not provided; Inborn genetic diseases
- A25T (p.Ala25Thr), rs778758225, ClinGen CA069596, ClinVar RCV004013622, ExAC rs778758225, REVEL 0.70, MetaLR 0.93, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- A25S (p.Ala25Ser), gnomAD 19-38440772-G-T, REVEL 0.66, MetaLR 0.93
- A25V (p.Ala25Val), gnomAD 19-38440773-C-T, REVEL 0.88, MetaLR 0.96
- T26P (p.Thr26Pro), rs1972635177, ClinGen CA405671569, ClinVar RCV001127220, ClinVar RCV001127221, REVEL 0.74, MetaLR 0.94, Uncertain significance
- T26A (p.Thr26Ala), gnomAD 19-38440775-A-G, REVEL 0.38, MetaLR 0.86
- T26I (p.Thr26Ile), gnomAD 19-38440776-C-T, REVEL 0.62, MetaLR 0.94
- T26T (p.Thr26Thr), rs372508199, gnomAD 19-38440777-C-T, CADD 0.78
- V27M (p.Val27Met), rs143481004, ClinGen CA071214, cosmic curated COSV62100, ClinVar RCV000824571, REVEL 0.31, MetaLR 0.91, Likely benign
- V27V (p.Val27Val), rs2145320410, gnomAD 19-38440780-G-A, CADD 5.74
- L28F (p.Leu28Phe), rs1242495143, ClinGen CA405671596, cosmic curated COSV62114, ClinVar RCV000655549, REVEL 0.45, MetaLR 0.92, Uncertain significance
- L28I (p.Leu28Ile), gnomAD 19-38440781-C-A, REVEL 0.35, MetaLR 0.92
- L28P (p.Leu28Pro), gnomAD 19-38440782-T-C, REVEL 0.62, MetaLR 0.89
- L28H (p.Leu28His), gnomAD 19-38440782-T-A, REVEL 0.54, MetaLR 0.82
- L28L (p.Leu28Leu), rs781676755, gnomAD 19-38440783-C-T, CADD 10.70
- K29E (p.Lys29Glu), rs1240489600, ClinGen CA405671622, ClinVar RCV001315872, ClinVar RCV006548102, REVEL 0.74, MetaLR 0.90, Uncertain significance
- K29R (p.Lys29Arg), gnomAD rs1285741243, REVEL 0.61, MetaLR 0.90
- E30* (p.Glu30Ter), ExAC rs746378173, gnomAD rs746378173, CADD 39.00
- E30G (p.Glu30Gly), ESP rs145771708, ExAC rs145771708, TOPMed rs145771708, gnomAD rs145771708, Likely benign
- E30K (p.Glu30Lys), ExAC rs746378173, gnomAD rs746378173, REVEL 0.83, MetaLR 0.93
- E30V (p.Glu30Val), rs145771708, ClinGen CA073030, ClinVar RCV000209972, ClinVar RCV000351450, REVEL 0.92, MetaLR 0.93, Likely benign
- E30D (p.Glu30Asp), gnomAD 19-38440789-G-C, REVEL 0.47, MetaLR 0.87
- Q31K (p.Gln31Lys), TOPMed rs1972636449, gnomAD rs1972636449, REVEL 0.52, MetaLR 0.90
- Q31R (p.Gln31Arg), rs2513956576, ClinGen CA405671688, ClinVar RCV004012777, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- Q31Q (p.Gln31Gln), rs1482747444, gnomAD 19-38440792-G-A, CADD 5.04
- L32F (p.Leu32Phe), rs138630815, ClinGen CA024988, ClinVar RCV000175618, ClinVar RCV000721743, REVEL 0.39, MetaLR 0.80, Likely benign
- L32P (p.Leu32Pro), Ensembl rs2145320552
- L32L (p.Leu32Leu), rs768813714, gnomAD 19-38440795-C-G, CADD 3.27
- K33E (p.Lys33Glu), rs193922746, ClinGen CA025005, ClinVar RCV000049252, ClinVar RCV000119774, AlphaMissense 0.90, MetaLR 0.95, Pathogenic, in KDS
- K33Q (p.Lys33Gln), rs193922746, ClinGen CA405671747, ClinVar RCV002713596, AlphaMissense 0.90, MetaLR 0.95, Uncertain significance, Inborn genetic diseases
- K33R (p.Lys33Arg), rs2513956642, ClinGen CA405671755, ClinVar RCV003030533, Uncertain significance, RYR1-related disorder
- K33N (p.Lys33Asn), gnomAD 19-38440798-G-C, REVEL 0.57, MetaLR 0.93
- L34F (p.Leu34Phe), TOPMed rs1481959610, gnomAD rs1481959610, REVEL 0.40, MetaLR 0.85, Uncertain significance
- L34V (p.Leu34Val), rs1481959610, ClinGen CA405671773, ClinVar RCV001349894, ClinVar RCV003992507, REVEL 0.41, MetaLR 0.71, Uncertain significance
- L34I (p.Leu34Ile), gnomAD 19-38440799-C-A, REVEL 0.40, MetaLR 0.83
- L34L (p.Leu34Leu), gnomAD 19-38440801-C-T, CADD 5.93
- C35F (p.Cys35Phe), NCI-TCGA TCGA novel, REVEL 0.88, MetaLR 0.95, Variant assessed as somatic; moderate impact., in MHS1
- C35R (p.Cys35Arg), rs193922747, ClinGen CA023838, ClinVar RCV000119411, ClinVar RCV001588932, REVEL 0.95, MetaLR 0.96, Pathogenic, in MHS1
- C35C (p.Cys35Cys), gnomAD 19-38440804-C-T, CADD 9.11
- L36V (p.Leu36Val), TOPMed rs1412645396, gnomAD rs1412645396, REVEL 0.65, MetaLR 0.95
- L36L (p.Leu36Leu), rs1412645396, gnomAD 19-38440805-C-T, CADD 11.20
- A37V (p.Ala37Val), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, Variant assessed as somatic; moderate impact.
- A37A (p.Ala37Ala), rs142909076, gnomAD 19-38440810-C-A, CADD 2.29
- A38D (p.Ala38Asp), NCI-TCGA Cosmic COSV6208, cosmic curated COSV62088, Variant assessed as somatic; moderate impact.
- A38S (p.Ala38Ser), rs377558801, ClinGen CA056699, ClinVar RCV000544625, ClinVar RCV006268864, REVEL 0.50, MetaLR 0.96, Uncertain significance
- A38T (p.Ala38Thr), rs377558801, ClinGen CA056689, ClinVar RCV000815396, ClinVar RCV002495150, REVEL 0.38, MetaLR 0.95, Uncertain significance
- A38A (p.Ala38Ala), rs150794120, gnomAD 19-38440813-C-T, CADD 1.87
- E39G (p.Glu39Gly), rs1600630863, ClinGen CA405671867, ClinVar RCV000996852, Ensembl rs1600630863, REVEL 0.87, MetaLR 0.95, Uncertain significance
- E39K (p.Glu39Lys), rs539201276, ClinGen CA057347, cosmic curated COSV62087, ClinVar RCV000721244, REVEL 0.85, MetaLR 0.95, Uncertain significance
- E39Q (p.Glu39Gln), gnomAD 19-38440814-G-C, REVEL 0.80, MetaLR 0.96
- G40A (p.Gly40Ala), rs2145320724, ClinGen CA405671894, ClinVar RCV001580408, ClinVar RCV002476886, AlphaMissense 0.81, MetaLR 0.98, Uncertain significance, in MHS1
- G40S (p.Gly40Ser), gnomAD 19-38440817-G-A, REVEL 0.82, MetaLR 0.97
- F41L (p.Phe41Leu), ExAC rs753672925, TOPMed rs753672925, gnomAD rs753672925, Likely benign
- F41S (p.Phe41Ser), rs766407858, ClinGen CA058692, ClinVar RCV000544009, ClinVar RCV000721268, REVEL 0.93, MetaLR 0.96, Pathogenic
- F41F (p.Phe41Phe), rs753672925, gnomAD 19-38440822-C-T, CADD 7.45
- G42D (p.Gly42Asp), rs1972639264, ClinGen CA405671946, ClinVar RCV001123153, ClinVar RCV001123154, AlphaMissense 0.99, MetaLR 0.96, Uncertain significance
- G42R (p.Gly42Arg), rs759417601, ClinGen CA405671937, ClinVar RCV000622303, ClinVar RCV001855301, REVEL 0.88, MetaLR 0.96, Uncertain significance
- G42S (p.Gly42Ser), rs759417601, ClinGen CA059039, NCI-TCGA Cosmic COSV6209, cosmic curated COSV62094, REVEL 0.81, MetaLR 0.95, Uncertain significance, not provided; RYR1-related disorder
- p.Gly42 Phe47del, gnomAD 19-38440817-GGCTT, CADD 21.20
- N43T (p.Asn43Thr), rs1600630942, ClinGen CA405671966, ClinVar RCV003314527, Ensembl rs1600630942, AlphaMissense 0.31, MetaLR 0.94, Likely pathogenic, Congenital multicore myopathy with external ophthalmoplegia
- N43H (p.Asn43His), gnomAD 19-38440826-A-C, REVEL 0.78, MetaLR 0.96
- N43N (p.Asn43Asn), gnomAD 19-38440828-C-T, CADD 8.78
- R44C (p.Arg44Cys), rs193922748, ClinGen CA024034, cosmic curated COSV62091, ClinVar RCV000119473, REVEL 0.95, MetaLR 0.96, Pathogenic, in MHS1
- R44H (p.Arg44His), rs139161723, ClinGen CA024037, cosmic curated COSV62103, ClinVar RCV000119474, REVEL 0.93, MetaLR 0.96, Pathogenic, in MHS1
- R44P (p.Arg44Pro), rs139161723, ClinGen CA405671989, ClinVar RCV003757580, ESP rs139161723, REVEL 0.92, MetaLR 0.96, Likely pathogenic, RYR1-related disorder
- R44R (p.Arg44Arg), gnomAD 19-38440831-C-T, CADD 10.90
- L45P (p.Leu45Pro), rs1217945877, ClinGen CA405672003, ClinVar RCV003758101, ClinVar RCV006548751, REVEL 0.93, MetaLR 0.95, Uncertain significance, Malignant hyperthermia, susceptibility to, 1; RYR1-related disorder
- L45V (p.Leu45Val), rs1972639888, ClinGen CA405672000, ClinVar RCV003135868, TOPMed rs1972639888, REVEL 0.80, MetaLR 0.94, Uncertain significance, not provided
- L45L (p.Leu45Leu), rs1972639888, gnomAD 19-38440832-C-T, CADD 12.10
- F47L (p.Phe47Leu), gnomAD rs1311093214, REVEL 0.84, MetaLR 0.94
- F47S (p.Phe47Ser), gnomAD 19-38440839-T-C, REVEL 0.82, MetaLR 0.93
- L48P (p.Leu48Pro), gnomAD rs1234313279, REVEL 0.93, MetaLR 0.97
- L48L (p.Leu48Leu), gnomAD 19-38440843-G-A, CADD 11.20
- E49D (p.Glu49Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E49G (p.Glu49Gly), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, Variant assessed as somatic; moderate impact.
- P50S (p.Pro50Ser), rs1440528234, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, REVEL 0.50, MetaLR 0.79, Variant assessed as somatic; moderate impact.
- P50T (p.Pro50Thr), gnomAD 19-38440847-C-A, REVEL 0.59, MetaLR 0.85
- P50P (p.Pro50Pro), rs554528443, gnomAD 19-38440849-C-G, CADD 9.87
- T51A (p.Thr51Ala), TOPMed rs1282030898, gnomAD rs1282030898, REVEL 0.81, MetaLR 0.94
- T51I (p.Thr51Ile), rs193922749, ClinGen CA062078, ClinVar RCV004009814, ExAC rs193922749, REVEL 0.66, MetaLR 0.91, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- T51N (p.Thr51Asn), rs193922749, ClinGen CA024282, ClinVar RCV000119572, ClinVar RCV000797515, REVEL 0.77, MetaLR 0.95, Uncertain significance
- T51T (p.Thr51Thr), rs751118259, gnomAD 19-38440852-T-C, CADD 11.90
- S52I (p.Ser52Ile), ExAC rs756570405, gnomAD rs756570405, REVEL 0.70, MetaLR 0.95
- S52N (p.Ser52Asn), ExAC rs756570405, gnomAD rs756570405, REVEL 0.63, MetaLR 0.95
- S52R (p.Ser52Arg), rs2145321042, ClinGen CA405672185, ClinVar RCV001893206, Ensembl rs2145321042, AlphaMissense 0.98, MetaLR 0.95, Uncertain significance
- N53K (p.Asn53Lys), rs780591516, ClinGen CA405672221, ClinVar RCV002286070, REVEL 0.60, MetaLR 0.93, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- N53S (p.Asn53Ser), gnomAD 19-38440857-A-G, REVEL 0.54, MetaLR 0.93
- N53N (p.Asn53Asn), rs780591516, gnomAD 19-38440858-C-T, CADD 4.06
- A54E (p.Ala54Glu), rs1032364286, ClinGen CA405672261, ClinVar RCV001360112, ClinVar RCV002486507, REVEL 0.78, MetaLR 0.95, Uncertain significance
- A54T (p.Ala54Thr), rs749591578, ExAC rs749591578, gnomAD rs749591578, REVEL 0.67, MetaLR 0.94, Variant assessed as somatic; moderate impact.
- A54V (p.Ala54Val), rs1032364286, ClinGen CA308106844, ClinVar RCV000734276, ClinVar RCV006552820, REVEL 0.72, MetaLR 0.95, Uncertain significance
- A54P (p.Ala54Pro), gnomAD 19-38440859-G-C, REVEL 0.72, MetaLR 0.93
- A54A (p.Ala54Ala), rs769042961, gnomAD 19-38440861-G-A, CADD 10.90
- Q55* (p.Gln55Ter), rs779061307, ClinGen CA062204, ClinVar RCV000823475, ExAC rs779061307, CADD 47.00, Pathogenic
- Q55H (p.Gln55His), NCI-TCGA Cosmic COSV6210, cosmic curated COSV62108, Variant assessed as somatic; moderate impact.
- Q55K (p.Gln55Lys), rs779061307, ClinGen CA405672263, ClinVar RCV004012043, Uncertain significance, Malignant hyperthermia, susceptibility to, 1
- N56K (p.Asn56Lys), gnomAD 19-38442351-T-A, REVEL 0.57, MetaLR 0.92
- N56N (p.Asn56Asn), rs1266378538, gnomAD 19-38442351-T-C, CADD 12.90
- V57G (p.Val57Gly), Ensembl rs1600636563
- V57L (p.Val57Leu), gnomAD 19-38442352-G-T, REVEL 0.51, MetaLR 0.88
- V57V (p.Val57Val), gnomAD 19-38442354-G-T, CADD 5.21
- P58R (p.Pro58Arg), Ensembl rs1972731164
- P58S (p.Pro58Ser), TOPMed rs1402165847
- P58T (p.Pro58Thr), TOPMed rs1402165847
- P58P (p.Pro58Pro), gnomAD 19-38442357-C-T, CADD 9.54
- P59S (p.Pro59Ser), rs1555762521, ClinGen CA405673681, ClinVar RCV000521583, Ensembl rs1555762521, AlphaMissense 0.90, MetaLR 0.99, Uncertain significance
- P59P (p.Pro59Pro), rs201938317, gnomAD 19-38442360-C-T, CADD 5.13
- D60G (p.Asp60Gly), rs1555762532, ClinGen CA405673708, ClinVar RCV000662287, Ensembl rs1555762532, AlphaMissense 0.95, MetaLR 0.95, Likely pathogenic
- D60H (p.Asp60His), rs118192160, ClinGen CA405673701, NCI-TCGA Cosmic COSV6208, cosmic curated COSV62087, REVEL 0.92, AlphaMissense 0.94, Pathogenic
- D60N (p.Asp60Asn), rs118192160, ClinGen CA024309, NCI-TCGA Cosmic COSV6208, NCI-TCGA Cosmic COSV6209, REVEL 0.74, AlphaMissense 0.94, Pathogenic
- D60Y (p.Asp60Tyr), rs118192160, ClinGen CA405673698, ClinVar RCV001591948, ExAC rs118192160, AlphaMissense 0.94, MetaLR 0.96, Pathogenic
- D60R (p.Asp60Arg), rs756326114, gnomAD 19-38442354-G-GC, CADD 32.00
- D60I (p.Asp60Ile), rs756326114, gnomAD 19-38442354-GC-G, CADD 29.30
- D60D (p.Asp60Asp), gnomAD 19-38442363-T-C, CADD 7.45
- L61V (p.Leu61Val), rs769890047, ClinGen CA062460, ClinVar RCV001321937, ClinVar RCV006548124, REVEL 0.67, MetaLR 0.88, Uncertain significance
- L61L (p.Leu61Leu), rs775140898, gnomAD 19-38442366-G-A, CADD 11.90
Public RYR1 analysis runs
- RYR1 analysis run — RYR1 (7,713 variants) — completed 2026-08-10