MYL2 (P10916) variants and mutations
MYL2 (also known as P10916) is a human protein-coding gene encoding a myosin regulatory light chain 2, ventricular/cardiac muscle isoform protein. It modulates cardiac myosin-head mechanics and phosphorylation-dependent force generation in ventricular sarcomeres. Pathogenic variants are an established cause of familial hypertrophic cardiomyopathy and can also produce other cardiomyopathy phenotypes. This analysis covers 451 MYL2 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy 10, hypertrophic cardiomyopathy, and myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy. Example MYL2 variants include M1?, M1I, and M1V.
Variant analysis overview
- Gene: MYL2
- Protein: P10916
- UniProt accession: P10916
- Organism: Homo sapiens
- Variants analyzed: 451
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 331 unspecified-consequence records; 1 stop retained variant; 42 missense variants; 54 synonymous variants; 9 frameshift variants; 4 splice-region variants; 4 stop-gained variants; 2 in-frame deletions; 1 in-frame insertions; 2 substitution
- Prediction scores: 399 variants have prediction scores (88% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy 10, hypertrophic cardiomyopathy, myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, cardiomyopathy, cardiovascular disorder, congenital fiber-type disproportion myopathy, Rare familial disorder with hypertrophic cardiomyopathy, Abnormality of the cardiovascular system, familial hypertrophic cardiomyopathy, myocardial infarction, coronary artery disorder, congenital heart disease.
Protein structure and variant hotspots
- Protein features: 3 domains; 4 binding sites; 5 post-translational modification sites.
- Structural context: 292 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 MYL2 variants
Examples include M1?, M1I, M1V, A2E, A2S, A2T, P3S, P3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5740, cosmic curated COSV57406, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs1555258369, ClinGen CA386700390, ClinVar RCV000513098, ClinVar RCV000639673, MetaLR 0.28, MetaSVM -0.71, Conflicting interpretations, Familial isolated restrictive cardiomyopathy; Hypertrophic cardiomyopathy 10
- M1V (p.Met1Val), rs876661378, ClinGen CA10581165, ClinVar RCV000223736, ClinVar RCV005401385, MetaLR 0.34, MetaSVM -0.49, Uncertain significance, not provided; Cardiomyopathy
- A2E (p.Ala2Glu), TOPMed rs2071704764
- A2S (p.Ala2Ser), rs1060499882, ClinGen CA386700375, ClinVar RCV001191495, ClinVar RCV001363795, REVEL 0.23, AlphaMissense 0.08, Conflicting interpretations, Hypertrophic cardiomyopathy 10; Cardiomyopathy
- A2T (p.Ala2Thr), rs1060499882, ClinGen CA16609759, ClinVar RCV000455015, ClinVar RCV000618317, AlphaMissense 0.08, MetaLR 0.26, Uncertain significance, Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 10
- P3S (p.Pro3Ser), rs763957786, ClinGen CA386700370, ClinVar RCV002419166, ClinVar RCV003776469, AlphaMissense 0.18, MetaLR 0.46, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyo
- P3T (p.Pro3Thr), ExAC rs763957786, TOPMed rs763957786, gnomAD rs763957786, REVEL 0.46, AlphaMissense 0.18, Uncertain significance
- P3P (p.Pro3Pro), gnomAD 12-110914313-A-G, CADD 6.47
- K4R (p.Lys4Arg), rs2136777488, ClinGen CA386700362, ClinVar RCV003532743, Ensembl rs2136777488, REVEL 0.34, CADD 24.10, Uncertain significance, Cardiomyopathy
- K5R (p.Lys5Arg), rs730880941, ClinGen CA009892, ClinVar RCV000158909, ClinVar RCV000816711, REVEL 0.36, CADD 24.10, Uncertain significance, not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- A6S (p.Ala6Ser), Ensembl rs905741278, REVEL 0.36, CADD 23.90
- K7R (p.Lys7Arg), rs1344327792, ClinGen CA386700342, ClinVar RCV000620385, ClinVar RCV006552522, REVEL 0.38, CADD 24.40, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy
- K8R (p.Lys8Arg), rs886039195, ClinGen CA10587735, cosmic curated COSV99076, ClinVar RCV000247161, REVEL 0.27, CADD 22.60, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- R9K (p.Arg9Lys), rs2071704532, ClinGen CA386700329, ClinVar RCV001878291, TOPMed rs2071704532, AlphaMissense 0.13, MetaLR 0.42, Uncertain significance, Hypertrophic cardiomyopathy 10
- A10P (p.Ala10Pro), rs730880942, ClinGen CA386700323, ClinVar RCV001969620, ExAC rs730880942, AlphaMissense 0.14, MetaLR 0.32, Uncertain significance, Hypertrophic cardiomyopathy 10
- A10T (p.Ala10Thr), rs730880942, ClinGen CA010053, ClinVar RCV000158910, ClinVar RCV000794360, REVEL 0.19, AlphaMissense 0.14, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- A10V (p.Ala10Val), cosmic curated COSV10955, Ensembl rs2136777450, REVEL 0.23, CADD 3.28
- G11A (p.Gly11Ala), gnomAD rs1216149609, REVEL 0.16, CADD 9.09
- G11E (p.Gly11Glu), gnomAD rs1216149609
- G11R (p.Gly11Arg), rs397516402, ClinGen CA010093, ClinVar RCV000036392, ClinVar RCV000678724, REVEL 0.23, CADD 14.30, Uncertain significance, Cardiomyopathy
- G11V (p.Gly11Val), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57408, MetaLR 0.35, MetaSVM -0.43, Variant assessed as somatic; moderate impact.
- G11W (p.Gly11Trp), ExAC rs397516402, TOPMed rs397516402, gnomAD rs397516402, REVEL 0.36, CADD 19.50, Uncertain significance
- G12C (p.Gly12Cys), rs730880937, ClinGen CA010134, ClinVar RCV000774463, ClinVar RCV001208534, REVEL 0.55, CADD 23.10, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- G12D (p.Gly12Asp), rs762584624, ClinGen CA386700313, ClinVar RCV002048578, ExAC rs762584624, AlphaMissense 0.34, MetaLR 0.54, Uncertain significance, Hypertrophic cardiomyopathy 10
- G12S (p.Gly12Ser), rs730880937, ClinGen CA386700314, ClinVar RCV001192326, ClinVar RCV001859164, REVEL 0.40, CADD 22.20, Uncertain significance, Hypertrophic cardiomyopathy 10; Cardiomyopathy
- G12V (p.Gly12Val), rs762584624, ClinGen CA042285, cosmic curated COSV99960, ClinVar RCV001524052, REVEL 0.56, AlphaMissense 0.34, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- A13D (p.Ala13Asp), NCI-TCGA TCGA novel, MetaLR 0.47, MetaSVM -0.10, Variant assessed as somatic; moderate impact., in CMH10
- A13T (p.Ala13Thr), rs104894363, ClinGen CA010242, cosmic curated COSV57407, ClinVar RCV000015108, REVEL 0.53, CADD 17.20, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- N14H (p.Asn14His), rs2499814987, ClinGen CA386700306, ClinVar RCV003311102, Uncertain significance, Cardiovascular phenotype
- N14I (p.Asn14Ile), rs2071704259, ClinGen CA386700302, ClinVar RCV003631049, Ensembl rs2071704259, AlphaMissense 0.61, MetaLR 0.23, Uncertain significance, Hypertrophic cardiomyopathy 10
- N14K (p.Asn14Lys), rs878853980, ClinGen CA386700300, ClinVar RCV000639674, ClinVar RCV004003899, AlphaMissense 0.75, MetaLR 0.21, Uncertain significance, Cardiovascular phenotype
- N14S (p.Asn14Ser), rs2071704259, ClinGen CA386700303, ClinVar RCV002327847, Ensembl rs2071704259, AlphaMissense 0.61, MetaLR 0.23, Uncertain significance, Cardiovascular phenotype
- N14T (p.Asn14Thr), rs2071704259, ClinGen CA386700301, ClinVar RCV001109260, Ensembl rs2071704259, AlphaMissense 0.61, MetaLR 0.23, Uncertain significance, Hypertrophic cardiomyopathy 10
- N16D (p.Asn16Asp), rs2136777385, ClinGen CA386700292, ClinVar RCV001988420, ClinVar RCV004697179, AlphaMissense 0.67, MetaLR 0.69, Uncertain significance, not provided; Hypertrophic cardiomyopathy 10
- N16S (p.Asn16Ser), rs2071704153, ClinGen CA386700289, ClinVar RCV001316404, ClinVar RCV001760386, AlphaMissense 0.13, MetaLR 0.63, Uncertain significance, Hypertrophic cardiomyopathy 10; Cardiovascular phenotype; not provided
- V17A (p.Val17Ala), rs2136777356, ClinGen CA386700283, ClinVar RCV001881856, ClinVar RCV002478254, AlphaMissense 0.87, MetaLR 0.71, Uncertain significance, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c
- V17L (p.Val17Leu), ExAC rs730880943, TOPMed rs730880943, gnomAD rs730880943, REVEL 0.78, CADD 25.70, Uncertain significance
- V17M (p.Val17Met), rs730880943, ClinGen CA010480, ClinVar RCV000158912, ClinVar RCV000241994, REVEL 0.72, CADD 26.40, Uncertain significance, Cardiovascular phenotype; Myopathy, myofibrillar, 12, infantile-onset, with card
- F18L (p.Phe18Leu), rs104894370, NCI-TCGA TCGA novel, ClinGen CA010488, NCI-TCGA Cosmic COSV5740, REVEL 0.90, CADD 28.60, Pathogenic/Likely pathogenic, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c
- F18S (p.Phe18Ser), rs730880944, ClinGen CA010495, ClinVar RCV000158913, ClinVar RCV000852440, AlphaMissense 0.98, MetaLR 0.77, Conflicting interpretations, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 10
- F18V (p.Phe18Val), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57406, MetaLR 0.72, MetaSVM 0.46, Variant assessed as somatic; moderate impact., in CMH10
- S19C (p.Ser19Cys), rs2071704028, ClinGen CA386700270, ClinVar RCV001185608, ClinVar RCV001317123, AlphaMissense 0.69, MetaLR 0.71, Uncertain significance, Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy; Cardiomyopathy
- M20K (p.Met20Lys), rs113167834, ClinGen CA043481, ClinVar RCV000508032, ClinVar RCV001321322, AlphaMissense 0.75, MetaLR 0.48, Uncertain significance, not specified; Hypertrophic cardiomyopathy 10
- M20L (p.Met20Leu), rs199474816, ClinGen CA010504, ClinVar RCV000119381, ExAC rs199474816, AlphaMissense 0.33, MetaLR 0.46, not provided
- M20T (p.Met20Thr), ExAC rs113167834, gnomAD rs113167834, Uncertain significance
- M20V (p.Met20Val), rs199474816, ClinGen CA043462, ClinVar RCV001178039, ClinVar RCV003629155, AlphaMissense 0.33, MetaLR 0.46, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 10
- F21S (p.Phe21Ser), rs2499814915, ClinGen CA386700259, ClinVar RCV003630852, ClinVar RCV005675275, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 10
- F21V (p.Phe21Val), rs2499814919, ClinGen CA386700261, ClinVar RCV003339194, Uncertain significance, Cardiovascular phenotype
- E22* (p.Glu22Ter), rs104894368, ClinGen CA010523, ClinVar RCV000158915, ClinVar RCV002362844, CADD 37.00, Pathogenic, in CMH10
- E22K (p.Glu22Lys), rs104894368, ClinGen CA010513, NCI-TCGA Cosmic COSV5740, cosmic curated COSV57405, REVEL 0.71, CADD 27.60, Pathogenic/Likely pathogenic, MYL2-related disorder; Cardiovascular phenotype; not provided
- E22Q (p.Glu22Gln), 1000Genomes rs104894368, ExAC rs104894368, TOPMed rs104894368, gnomAD rs104894368, REVEL 0.56, CADD 25.90, Uncertain significance, Hypertrophic cardiomyopathy 10; Cardiomyopathy
- Q23* (p.Gln23Ter), NCI-TCGA Cosmic COSV9996, cosmic curated COSV99960, Variant assessed as somatic; high impact.
- Q23E (p.Gln23Glu), gnomAD rs1157086995, REVEL 0.46, CADD 24.40
- Q23K (p.Gln23Lys), NCI-TCGA Cosmic COSV9996, Variant assessed as somatic; moderate impact.
- T24A (p.Thr24Ala), rs2071703872, ClinGen CA386700241, cosmic curated COSV57407, ClinVar RCV004016819, AlphaMissense 0.08, MetaLR 0.18, Uncertain significance, Hypertrophic cardiomyopathy
- T24I (p.Thr24Ile), rs2136777298, ClinGen CA386700237, ClinVar RCV002021901, Ensembl rs2136777298, AlphaMissense 0.61, MetaLR 0.42, Uncertain significance, Hypertrophic cardiomyopathy 10
- Q25E (p.Gln25Glu), rs2499814879, ClinGen CA386700235, ClinVar RCV004518445, ClinVar RCV005054484, Uncertain significance, not provided; Cardiovascular phenotype
- Q25R (p.Gln25Arg), rs1469796561, NCI-TCGA Cosmic COSV9996, cosmic curated COSV99960, gnomAD rs1469796561, REVEL 0.56, CADD 24.20, Variant assessed as somatic; moderate impact.
- Q27H (p.Gln27His), rs1566150393, ClinGen CA386700216, ClinVar RCV000769370, Ensembl rs1566150393, AlphaMissense 0.94, MetaLR 0.63, Uncertain significance, Cardiomyopathy
- Q27R (p.Gln27Arg), rs397516408, ClinGen CA010526, ClinVar RCV000036410, ClinVar RCV000845333, AlphaMissense 0.84, MetaLR 0.51, Conflicting interpretations, Primary familial hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10; Hy
- E28D (p.Glu28Asp), rs397516410, ClinGen CA010541, ClinVar RCV000036412, ClinVar RCV003149629, AlphaMissense 0.96, MetaLR 0.68, Uncertain significance, Hypertrophic cardiomyopathy 10
- E28G (p.Glu28Gly), rs2071703750, ClinGen CA386700211, ClinVar RCV001052552, Ensembl rs2071703750, AlphaMissense 0.96, MetaLR 0.82, Uncertain significance, Hypertrophic cardiomyopathy 10
- E28K (p.Glu28Lys), rs397516409, ClinGen CA010532, ClinVar RCV000036411, Ensembl rs397516409, AlphaMissense 0.99, MetaLR 0.71, Uncertain significance, not specified
- F29C (p.Phe29Cys), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57406, Variant assessed as somatic; moderate impact.
- F29I (p.Phe29Ile), Ensembl rs867996559, MetaLR 0.55, MetaSVM -0.04
- E31G (p.Glu31Gly), rs2136777256, ClinGen CA386700189, ClinVar RCV001901581, ClinVar RCV004808154, REVEL 0.87, CADD 35.00, Uncertain significance, Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- p.Glu36 Cys37insThrAlaHis, rs1566148758, gnomAD 12-110914309-A-AG, CADD 4.90
- E31D (p.Glu31Asp), gnomAD 12-110914310-C-A, CADD 4.64, SIFT 0.21
- E31E (p.Glu31Glu), rs2071675189, gnomAD 12-110914310-C-T, CADD 5.31
- E31K (p.Glu31Lys), gnomAD 12-110914312-C-T, CADD 4.12, SIFT 0.04
- F33L (p.Phe33Leu), rs730880945, ClinGen CA010549, ClinVar RCV000158916, ClinVar RCV000537629, REVEL 0.95, CADD 28.80, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar
- T34I (p.Thr34Ile), rs876657894, ClinGen CA10576906, ClinVar RCV000220734, ClinVar RCV001187404, REVEL 0.47, AlphaMissense 0.96, Uncertain significance, not specified; Cardiomyopathy
- T34N (p.Thr34Asn), rs876657894, ClinGen CA386699562, ClinVar RCV003051522, AlphaMissense 0.96, MetaLR 0.38, Uncertain significance, Hypertrophic cardiomyopathy 10
- T34A (p.Thr34Ala), rs745773458, gnomAD 12-110914297-T-C, CADD 6.23, SIFT 1.00
- I35V (p.Ile35Val), rs730880946, ClinGen CA009829, ClinVar RCV001219554, ClinVar RCV002390384, REVEL 0.68, CADD 23.40, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- M36I (p.Met36Ile), gnomAD rs2071684316, REVEL 0.29, CADD 23.50
- D37G (p.Asp37Gly), rs2136774114, ClinGen CA386699514, ClinVar RCV001804437, ClinVar RCV005623097, AlphaMissense 1.00, MetaLR 0.98, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Q38K (p.Gln38Lys), rs2499811840, ClinGen CA386699501, ClinVar RCV002320490, Uncertain significance, Cardiovascular phenotype
- Q38R (p.Gln38Arg), rs730880947, ClinGen CA009842, ClinVar RCV000158918, ClinVar RCV006555514, AlphaMissense 0.79, MetaLR 0.32, Uncertain significance, not provided; Hypertrophic cardiomyopathy 10
- R40K (p.Arg40Lys), rs727503299, ClinGen CA009847, ClinVar RCV000151367, ClinVar RCV000464490, AlphaMissense 0.99, MetaLR 0.55, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- R40M (p.Arg40Met), rs727503299, ClinGen CA009851, ClinVar RCV000155752, ClinVar RCV000463477, AlphaMissense 0.99, MetaLR 0.55, Uncertain significance, not specified; Hypertrophic cardiomyopathy 10
- R40T (p.Arg40Thr), rs727503299, ClinGen CA243563297, ClinVar RCV001337424, ClinVar RCV004808017, AlphaMissense 0.99, MetaLR 0.55, Uncertain significance, Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- R40W (p.Arg40Trp), NCI-TCGA Cosmic COSV5740, MetaLR 0.20, MetaSVM -0.83, Variant assessed as somatic; moderate impact.
- D41V (p.Asp41Val), rs1474843855, ClinGen CA386699416, ClinVar RCV003629769, TOPMed rs1474843855, REVEL 0.80, CADD 31.00, Uncertain significance, Hypertrophic cardiomyopathy 10
- G42A (p.Gly42Ala), TOPMed rs863225117, gnomAD rs863225117, Uncertain significance
- G42C (p.Gly42Cys), ExAC rs754854401, gnomAD rs754854401
- G42D (p.Gly42Asp), rs863225117, ClinGen CA279277, ClinVar RCV000201445, ClinVar RCV001178807, REVEL 0.94, CADD 25.80, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- G42G (p.Gly42Gly), gnomAD 12-110914319-T-C, CADD 5.24, SIFT 0.12
- G42R (p.Gly42Arg), rs377275311, gnomAD 12-110914321-C-T, CADD 0.00, SIFT 0.38
- F43V (p.Phe43Val), Ensembl rs2071684124, MetaLR 0.41, MetaSVM -0.20
- F43S (p.Phe43Ser), rs764824483, gnomAD 12-110914302-AAC-, CADD 6.24
- F43A (p.Phe43Ala), gnomAD 12-110914303-A-AG, CADD 5.42
- D45E (p.Asp45Glu), rs199474807, ClinGen CA386699338, ClinVar RCV002013213, ClinVar RCV003533091, REVEL 0.36, CADD 25.70, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 10
- D45H (p.Asp45His), rs1363460648, ClinGen CA386699348, ClinVar RCV004015626, ClinVar RCV005103352, REVEL 0.66, AlphaMissense 0.75, Uncertain significance, Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10
- D45N (p.Asp45Asn), rs1363460648, ClinGen CA386699351, ClinVar RCV001907114, gnomAD rs1363460648, AlphaMissense 0.75, MetaLR 0.43, Uncertain significance, Hypertrophic cardiomyopathy 10
- N47K (p.Asn47Lys), rs199474808, ClinGen CA009871, ClinVar RCV000024457, ClinVar RCV000148715, REVEL 0.16, CADD 11.90, Conflicting interpretations, Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar
- N47Y (p.Asn47Tyr), rs2136774049, ClinGen CA386699311, ClinVar RCV001525383, Ensembl rs2136774049, AlphaMissense 0.44, MetaLR 0.31, Uncertain significance, Cardiomyopathy
- D48E (p.Asp48Glu), rs2136774026, ClinGen CA386699282, ClinVar RCV001804502, ClinVar RCV002388674, AlphaMissense 0.99, MetaLR 0.09, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy
- D48H (p.Asp48His), rs727504405, ClinGen CA386699294, ClinVar RCV001185155, TOPMed rs727504405, AlphaMissense 0.99, MetaLR 0.48, Uncertain significance, Cardiomyopathy
- D48N (p.Asp48Asn), rs727504405, ClinGen CA386699292, NCI-TCGA Cosmic COSV5740, REVEL 0.57, AlphaMissense 0.99, Uncertain significance, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c
- D48Y (p.Asp48Tyr), rs727504405, ClinGen CA009885, NCI-TCGA Cosmic COSV5740, AlphaMissense 0.99, MetaLR 0.48, Uncertain significance, not specified; Hypertrophic cardiomyopathy 10
- L49M (p.Leu49Met), NCI-TCGA Cosmic COSV9996, Variant assessed as somatic; moderate impact.
- L49P (p.Leu49Pro), Ensembl rs2136774024
- L49V (p.Leu49Val), rs2499811775, ClinGen CA386699275, ClinVar RCV004017081, Uncertain significance, Hypertrophic cardiomyopathy
- L49L (p.Leu49Leu), rs766341489, gnomAD 12-110914322-G-A, CADD 0.18, SIFT 0.00
- L49H (p.Leu49His), gnomAD 12-110914323-A-T, CADD 0.26, SIFT 0.00
- L49I (p.Leu49Ile), gnomAD 12-110914324-G-T, CADD 2.42, SIFT 0.02
- L49F (p.Leu49Phe), rs1357004896, gnomAD 12-110914324-G-A, CADD 2.94, SIFT 0.02
- D51Y (p.Asp51Tyr), rs2071683858, ClinGen CA386699239, ClinVar RCV001181201, Ensembl rs2071683858, AlphaMissense 0.88, MetaLR 0.47, Uncertain significance, Cardiomyopathy
- T52A (p.Thr52Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T52N (p.Thr52Asn), TOPMed rs1433279087, gnomAD rs1433279087, REVEL 0.51, CADD 26.30
- F53I (p.Phe53Ile), NCI-TCGA Cosmic COSV9996, Variant assessed as somatic; moderate impact.
- F53S (p.Phe53Ser), Ensembl rs1271164973, MetaLR 0.48, MetaSVM 0.11
- F53V (p.Phe53Val), NCI-TCGA Cosmic COSV9996, CADD 5.28, Variant assessed as somatic; moderate impact.
- A54P (p.Ala54Pro), gnomAD rs1171745073, REVEL 0.46, AlphaMissense 0.99, Uncertain significance
- A54S (p.Ala54Ser), rs1171745073, ClinGen CA386699186, ClinVar RCV001973723, ClinVar RCV006550793, AlphaMissense 0.99, MetaLR 0.32, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 10
- A54T (p.Ala54Thr), rs1171745073, ClinGen CA386699190, ClinVar RCV003092373, ClinVar RCV004736269, REVEL 0.37, AlphaMissense 0.99, Uncertain significance, Hypertrophic cardiomyopathy 10
- A54V (p.Ala54Val), rs2136773989, ClinGen CA386699182, ClinVar RCV001805350, ClinVar RCV001869536, AlphaMissense 0.53, MetaLR 0.33, Uncertain significance, Hypertrophic cardiomyopathy 10
- A55P (p.Ala55Pro), rs727504425, ClinGen CA386699176, ClinVar RCV000988908, TOPMed rs727504425, REVEL 0.36, CADD 24.30, Likely pathogenic, Hypertrophic cardiomyopathy 10
- A55S (p.Ala55Ser), rs727504425, ClinGen CA009898, ClinVar RCV000489222, ClinVar RCV001297385, REVEL 0.26, CADD 22.60, Conflicting interpretations, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 10
- G57E (p.Gly57Glu), rs199474809, ClinGen CA009910, ClinVar RCV000036384, ClinVar RCV000119378, REVEL 0.88, CADD 33.00, Uncertain significance, Hypertrophic cardiomyopathy
- G57R (p.Gly57Arg), rs2428140, TOPMed rs2428140, ClinGen CA386699152, ClinVar RCV001308163, AlphaMissense 1.00, MetaLR 0.81, Uncertain significance, Hypertrophic cardiomyopathy 10
- R58* (p.Arg58Ter), rs756671869, ClinGen CA040649, NCI-TCGA Cosmic COSV5740, NCI-TCGA Cosmic COSV9996, CADD 41.00, Likely benign, in CMH10
- R58=, rs756671869, NCI-TCGA Cosmic COSV5740, NCI-TCGA Cosmic COSV9996, Variant assessed as somatic; low impact., in CMH10
- R58G (p.Arg58Gly), rs756671869, ClinGen CA386698865, ClinVar RCV003515393, Uncertain significance, Hypertrophic cardiomyopathy 10
- R58L (p.Arg58Leu), rs104894369, ClinGen CA386698863, ClinVar RCV000639677, ClinVar RCV001575874, AlphaMissense 0.35, MetaLR 0.28, Likely pathogenic, not provided; Hypertrophic cardiomyopathy 10
- R58Q (p.Arg58Gln), rs104894369, ClinGen CA009915, ClinVar RCV000015111, ClinVar RCV000157369, REVEL 0.57, AlphaMissense 0.35, Pathogenic/Likely pathogenic, Cardiovascular phenotype; not provided; Cardiomyopathy
- R58R (p.Arg58Arg), rs777225996, gnomAD 12-110914286-T-C, CADD 7.64
- V59A (p.Val59Ala), rs2071674771, ClinGen CA386698859, ClinVar RCV004013122, AlphaMissense 0.53, MetaLR 0.20, Uncertain significance, Hypertrophic cardiomyopathy
- V59E (p.Val59Glu), rs2071674771, ClinGen CA386698858, ClinVar RCV001185348, Ensembl rs2071674771, AlphaMissense 0.53, MetaLR 0.20, Uncertain significance, Cardiomyopathy
- V59M (p.Val59Met), rs2071674789, ClinGen CA386698862, ClinVar RCV001049441, Ensembl rs2071674789, AlphaMissense 0.20, MetaLR 0.21, Uncertain significance, Hypertrophic cardiomyopathy 10
- V59V (p.Val59Val), gnomAD 12-110914283-C-T, CADD 10.30
- N60D (p.Asn60Asp), gnomAD rs2071674753, REVEL 0.71, CADD 24.60
- N60K (p.Asn60Lys), cosmic curated COSV57406, TOPMed rs1047009853, gnomAD rs1047009853, REVEL 0.63, CADD 12.70, Likely benign
- N60N (p.Asn60Asn), rs1047009853, gnomAD 12-110914280-G-A, CADD 0.54
- V61L (p.Val61Leu), rs730880949, ClinGen CA386698848, ClinVar RCV001193581, ClinVar RCV002559224, REVEL 0.54, CADD 23.70, Uncertain significance, Hypertrophic cardiomyopathy 10; Cardiovascular phenotype; not specified
- V61M (p.Val61Met), rs730880949, ClinGen CA009922, ClinVar RCV000158924, ClinVar RCV001241595, REVEL 0.66, CADD 24.40, Uncertain significance, not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- V61V (p.Val61Val), rs933908830, gnomAD 12-110914277-C-T, CADD 10.20
- K62* (p.Lys62Ter), rs201728041, ClinGen CA009930, ClinVar RCV000198198, ClinVar RCV000766353, CADD 40.00, Uncertain significance
- K62T (p.Lys62Thr), rs1766715902, ClinGen CA386698841, ClinVar RCV002414883, TOPMed rs1766715902, AlphaMissense 0.21, MetaLR 0.38, Uncertain significance, Cardiovascular phenotype
- N63N (p.Asn63Asn), rs1592800349, gnomAD 12-110914271-A-G, CADD 5.17
- N63M (p.Asn63Met), rs1177936172, gnomAD 12-110914271-AT-A, CADD 32.00
- E64K (p.Glu64Lys), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57408, Variant assessed as somatic; moderate impact.
- E64D (p.Glu64Asp), gnomAD 12-110914268-T-A, REVEL 0.41, MetaLR 0.29
- E64G (p.Glu64Gly), gnomAD 12-110914269-T-C, REVEL 0.81, MetaLR 0.61
- E65* (p.Glu65Ter), rs397516398, ClinGen CA386698819, ClinVar RCV001799463, Ensembl rs397516398, AlphaMissense 0.83, MetaLR 0.73, Likely pathogenic
- E65A (p.Glu65Ala), Ensembl rs2071674571
- E65K (p.Glu65Lys), rs397516398, ClinGen CA009936, ClinVar RCV000626688, ClinVar RCV001588846, AlphaMissense 0.83, MetaLR 0.73, Conflicting interpretations, not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- E65del (p.Glu65del), rs1454705834, gnomAD 12-110914264-TTTC, CADD 20.90
- E65G (p.Glu65Gly), gnomAD 12-110914266-T-C, REVEL 0.79, MetaLR 0.72
- I66I (p.Ile66Ile), rs755787766, gnomAD 12-110914262-A-G, CADD 5.87
- E68A (p.Glu68Ala), rs752456288, ClinGen CA386698794, ClinVar RCV004303680, AlphaMissense 0.16, MetaLR 0.39, Uncertain significance, Cardiovascular phenotype
- E68G (p.Glu68Gly), rs752456288, ClinGen CA040751, ClinVar RCV000687538, ClinVar RCV002485609, REVEL 0.44, AlphaMissense 0.16, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- M69I (p.Met69Ile), rs866041854, ClinGen CA386698784, ClinVar RCV000554010, ClinVar RCV004984960, REVEL 0.86, CADD 25.60, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- M69L (p.Met69Leu), rs2136772287, ClinGen CA386698791, ClinVar RCV002273281, Ensembl rs2136772287, AlphaMissense 0.82, MetaLR 0.63, Uncertain significance, Hypertrophic cardiomyopathy 10
- M69T (p.Met69Thr), rs2071674449, ClinGen CA386698787, ClinVar RCV001191590, ClinVar RCV001876239, REVEL 0.91, CADD 26.10, Uncertain significance, Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infantile-onset, wit
- I70I (p.Ile70Ile), gnomAD 12-110914250-G-T, CADD 10.60
- I70T (p.Ile70Thr), gnomAD 12-110914251-A-G, REVEL 0.44, MetaLR 0.53
- K71E (p.Lys71Glu), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57405, Variant assessed as somatic; moderate impact.
- K71M (p.Lys71Met), rs2136772274, ClinGen CA386698771, ClinVar RCV002014353, Ensembl rs2136772274, AlphaMissense 0.37, MetaLR 0.65, Uncertain significance, Hypertrophic cardiomyopathy 10
- K71R (p.Lys71Arg), gnomAD 12-110914248-T-C, REVEL 0.32, MetaLR 0.34
- E72D (p.Glu72Asp), rs376506450, ClinGen CA386698762, ClinVar RCV001189237, ESP rs376506450, REVEL 0.46, CADD 14.50, Uncertain significance, Cardiomyopathy
- E72E (p.Glu72Glu), rs376506450, gnomAD 12-110914244-C-T, CADD 6.43
- A73D (p.Ala73Asp), rs2136772253, ClinGen CA386698757, ClinVar RCV001910476, ClinVar RCV004808161, AlphaMissense 0.99, MetaLR 0.75, Uncertain significance, Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- A73S (p.Ala73Ser), rs2136772254, ClinGen CA386698758, ClinVar RCV002049589, Ensembl rs2136772254, AlphaMissense 0.24, MetaLR 0.59, Uncertain significance, Hypertrophic cardiomyopathy 10
- A73A (p.Ala73Ala), gnomAD 12-110914241-A-G, CADD 8.38
- A73V (p.Ala73Val), gnomAD 12-110914242-G-A, REVEL 0.61, MetaLR 0.56
- P74L (p.Pro74Leu), rs942467544, ClinGen CA243562249, NCI-TCGA Cosmic COSV5740, cosmic curated COSV57407, REVEL 0.83, AlphaMissense 0.63, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy 10
- P74R (p.Pro74Arg), rs942467544, ClinGen CA386698750, ClinVar RCV002766819, ClinVar RCV004007593, AlphaMissense 0.63, MetaLR 0.42, Uncertain significance, Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10
- P74S (p.Pro74Ser), rs2136772247, ClinGen CA386698752, NCI-TCGA Cosmic COSV5740, NCI-TCGA Cosmic COSV9996, AlphaMissense 0.20, MetaLR 0.21, Uncertain significance, not provided; Hypertrophic cardiomyopathy 10
- P74T (p.Pro74Thr), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57406, NCI-TCGA Cosmic COSV9996, Variant assessed as somatic; moderate impact.
- P74P (p.Pro74Pro), rs372644111, gnomAD 12-110914238-C-T, CADD 0.75
- P74A (p.Pro74Ala), gnomAD 12-110914300-G-C, CADD 7.74, SIFT 1.00
- G75D (p.Gly75Asp), rs1358412542, ClinGen CA386698746, ClinVar RCV004014766, TOPMed rs1358412542, REVEL 0.87, CADD 25.40, Uncertain significance, Hypertrophic cardiomyopathy
- G75S (p.Gly75Ser), gnomAD rs1309076129, REVEL 0.78, CADD 25.40, Uncertain significance, not provided
- G75V (p.Gly75Val), TOPMed rs1358412542, gnomAD rs1358412542, CADD 3.24, Uncertain significance, Hypertrophic cardiomyopathy 10
- P76A (p.Pro76Ala), TOPMed rs1193986376, gnomAD rs1193986376, REVEL 0.53, CADD 22.10
- P76L (p.Pro76Leu), Ensembl rs868354141, Uncertain significance, not provided
- P76T (p.Pro76Thr), TOPMed rs1193986376, gnomAD rs1193986376, REVEL 0.60, CADD 26.80, Uncertain significance, Cardiovascular phenotype
Public MYL2 analysis runs
- MYL2 analysis run — MYL2 (451 variants) — completed 2026-08-18