MYL3 (Myosin light chain 3) variants and mutations
MYL3 (also known as Myosin light chain 3) is a human protein-coding gene encoding a myosin light chain 3 protein. It provides an essential light chain for cardiac ventricular myosin and modulates actin-myosin force generation within the sarcomere. Pathogenic variants can cause hypertrophic or restrictive cardiomyopathy and disturb ventricular contractile mechanics. This analysis covers 502 MYL3 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy, Rare familial disorder with hypertrophic cardiomyopathy, and Abnormality of the cardiovascular system. Example MYL3 variants include M1K, M1V, and A2D.
Variant analysis overview
- Gene: MYL3
- Protein: Myosin light chain 3
- UniProt accession: P08590
- Organism: Homo sapiens
- Variants analyzed: 502
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 331 unspecified-consequence records; 66 missense variants; 81 synonymous variants; 12 frameshift variants; 3 stop-gained variants; 5 in-frame deletions; 3 splice-region variants; 1 in-frame insertions
- Prediction scores: 403 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy, Rare familial disorder with hypertrophic cardiomyopathy, Abnormality of the cardiovascular system, familial hypertrophic cardiomyopathy, cardiovascular disorder, cardiomyopathy, heart failure, chondrodysplasia Blomstrand type, metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, primary failure of tooth eruption, dilated cardiomyopathy 1U.
Protein structure and variant hotspots
- Protein features: 3 domains; 6 post-translational modification sites.
- Structural context: 274 variants have structural context.
- PTM context: 17 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 MYL3 variants
Examples include M1K, M1V, A2D, A2P, A2S, A2A, A2T, P3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs1282347222, ClinGen CA352499998, ClinVar RCV002435640, ClinVar RCV005860310, MetaLR 0.60, MetaSVM -0.36, Conflicting interpretations, Cardiovascular phenotype; Dilated cardiomyopathy 1U
- M1V (p.Met1Val), rs760875293, ClinGen CA043090, ClinVar RCV003532752, ClinVar RCV004011515, MetaLR 0.51, MetaSVM -0.55, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- A2D (p.Ala2Asp), cosmic curated COSV52768, REVEL 0.54, CADD 24.00
- A2P (p.Ala2Pro), rs148310342, ClinGen CA013963, ClinVar RCV000151371, ClinVar RCV000530942, REVEL 0.17, AlphaMissense 0.15, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- A2S (p.Ala2Ser), rs148310342, ClinGen CA352499986, ClinVar RCV001189461, ESP rs148310342, AlphaMissense 0.15, MetaLR 0.54, Uncertain significance, Cardiomyopathy
- A2A (p.Ala2Ala), gnomAD 3-46863385-G-C, CADD 12.10
- A2T (p.Ala2Thr), gnomAD 3-46863387-C-T, REVEL 0.46, CADD 22.70
- P3H (p.Pro3His), rs536404643, ClinGen CA045198, ClinVar RCV000620943, ClinVar RCV001798927, REVEL 0.65, CADD 26.10, Uncertain significance, not provided; Cardiomyopathy; Cardiovascular phenotype
- P3L (p.Pro3Leu), 1000Genomes rs536404643, ExAC rs536404643, gnomAD rs536404643, REVEL 0.58, CADD 26.60, Uncertain significance
- K4N (p.Lys4Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K4Q (p.Lys4Gln), rs1404760917, ClinGen CA352499966, ClinVar RCV001723437, ClinVar RCV005057550, REVEL 0.45, CADD 24.50, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- K4R (p.Lys4Arg), rs727503301, ClinGen CA013525, ClinVar RCV000151370, ClinVar RCV000795804, REVEL 0.51, CADD 24.60, Uncertain significance, Cardiovascular phenotype; not provided; Cardiomyopathy
- K5T (p.Lys5Thr), rs2544972081, ClinGen CA352499944, ClinVar RCV002304562, ClinVar RCV004047653, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- p.Lys5 Pro8delinsAsn, rs759666920, gnomAD 3-46863367-GGGCTC, CADD 20.70
- K5R (p.Lys5Arg), gnomAD 3-46863377-T-C, REVEL 0.47, CADD 24.10
- P6R (p.Pro6Arg), rs730880959, ClinGen CA013598, ClinVar RCV000158957, ExAC rs730880959, REVEL 0.42, CADD 22.90, Uncertain significance, not provided
- P6S (p.Pro6Ser), Ensembl rs1575498987
- P6Q (p.Pro6Gln), gnomAD 3-46863374-G-T, REVEL 0.39, CADD 22.70
- E7G (p.Glu7Gly), cosmic curated COSV10605, Uncertain significance, Hypertrophic cardiomyopathy
- P8T (p.Pro8Thr), rs2544972061, ClinGen CA352499909, ClinVar RCV003749936, Uncertain significance, Hypertrophic cardiomyopathy
- P8P (p.Pro8Pro), gnomAD 3-46863367-G-T, CADD 12.80
- P8S (p.Pro8Ser), gnomAD 3-46863369-G-A, REVEL 0.42, CADD 23.40
- K9E (p.Lys9Glu), rs2544972053, ClinGen CA352499895, ClinVar RCV002426219, ClinVar RCV006629466, REVEL 0.48, CADD 26.80, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- K9R (p.Lys9Arg), rs1025864971, ClinGen CA16042505, ClinVar RCV000414165, ClinVar RCV000771980, REVEL 0.37, CADD 26.00, Uncertain significance, not provided; Cardiomyopathy; Cardiovascular phenotype
- K9T (p.Lys9Thr), cosmic curated COSV52767
- K9K (p.Lys9Lys), rs994017710, gnomAD 3-46863364-C-T, CADD 12.80
- K10N (p.Lys10Asn), ExAC rs779002620, TOPMed rs779002620, gnomAD rs779002620, Likely benign
- K10del (p.Lys10del), rs774336537, gnomAD 3-46863360-CCTT-C, CADD 19.70
- K10K (p.Lys10Lys), rs779002620, gnomAD 3-46863361-C-T, CADD 10.40
- D11N (p.Asp11Asn), rs1326582665, ClinGen CA352499863, ClinVar RCV003532751, TOPMed rs1326582665, REVEL 0.21, AlphaMissense 0.15, Uncertain significance, Cardiomyopathy
- D11V (p.Asp11Val), rs1227232995, ClinGen CA352499854, ClinVar RCV001314472, ClinVar RCV003166794, REVEL 0.23, CADD 22.90, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- D11Y (p.Asp11Tyr), rs1326582665, ClinGen CA352499865, ClinVar RCV003749964, AlphaMissense 0.15, MetaLR 0.46, Uncertain significance, Hypertrophic cardiomyopathy
- D11G (p.Asp11Gly), gnomAD 3-46863359-T-C, REVEL 0.19, CADD 23.20
- D11M (p.Asp11Met), rs1702012187, gnomAD 3-46863359-TC-T, CADD 25.00
- D12E (p.Asp12Glu), rs138567316, ClinGen CA043908, ClinVar RCV001180348, ClinVar RCV001773427, REVEL 0.31, CADD 0.00, Conflicting interpretations, Cardiomyopathy; Cardiovascular phenotype; not provided
- D12G (p.Asp12Gly), rs2544972020, ClinGen CA352499840, ClinVar RCV004523037, REVEL 0.19, CADD 18.70, Uncertain significance, Cardiovascular phenotype
- D12N (p.Asp12Asn), cosmic curated COSV10880, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D12D (p.Asp12Asp), rs138567316, gnomAD 3-46863355-A-G, CADD 0.20
- D12Y (p.Asp12Tyr), gnomAD 3-46863357-C-A, REVEL 0.23, CADD 22.60
- A13T (p.Ala13Thr), cosmic curated COSV52768, Uncertain significance, Hypertrophic cardiomyopathy
- A13V (p.Ala13Val), gnomAD 3-46863353-G-A, REVEL 0.36, CADD 21.30
- K14Q (p.Lys14Gln), rs1702011948, ClinGen CA352499819, ClinVar RCV001188733, ClinVar RCV006557163, AlphaMissense 0.18, MetaLR 0.70, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- A15S (p.Ala15Ser), NCI-TCGA Cosmic COSV9943, cosmic curated COSV99439, Variant assessed as somatic; moderate impact.
- A15T (p.Ala15Thr), TOPMed rs1702011926, Uncertain significance, Hypertrophic cardiomyopathy
- A15V (p.Ala15Val), gnomAD 3-46863347-G-A, REVEL 0.26, CADD 19.10
- A16V (p.Ala16Val), rs754871327, ClinGen CA044306, ClinVar RCV001220550, ExAC rs754871327, REVEL 0.23, CADD 10.60, Uncertain significance, Hypertrophic cardiomyopathy
- A16D (p.Ala16Asp), gnomAD 3-46863344-G-T, REVEL 0.29, CADD 9.71
- A16T (p.Ala16Thr), gnomAD 3-46863345-C-T, REVEL 0.25, CADD 11.60
- P17R (p.Pro17Arg), rs1244476739, ClinGen CA352499772, ClinVar RCV004015867, TOPMed rs1244476739, REVEL 0.21, CADD 16.00, Uncertain significance, Hypertrophic cardiomyopathy
- P17S (p.Pro17Ser), rs1702011848, ClinGen CA352499775, ClinVar RCV001203601, ClinVar RCV002339510, REVEL 0.24, CADD 0.00, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; not provided
- P17L (p.Pro17Leu), gnomAD 3-46863341-G-A, REVEL 0.24, CADD 15.60
- K18E (p.Lys18Glu), rs1702011793, ClinGen CA352499764, ClinVar RCV001176176, Ensembl rs1702011793, AlphaMissense 0.21, MetaLR 0.43, Uncertain significance, Cardiomyopathy
- K18N (p.Lys18Asn), TOPMed rs1325828846, gnomAD rs1325828846, REVEL 0.28, CADD 21.60
- p.Lys18 Pro21del, rs769733070, gnomAD 3-46863331-AGCTGC, CADD 20.80
- A19S (p.Ala19Ser), rs141778691, ClinGen CA044903, ClinVar RCV002344896, ClinVar RCV003533184, REVEL 0.26, CADD 16.40, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- A19T (p.Ala19Thr), cosmic curated COSV52768
- A19A (p.Ala19Ala), gnomAD 3-46863334-T-G, CADD 3.07
- A20S (p.Ala20Ser), rs1384774790, ClinGen CA352499736, ClinVar RCV004009870, gnomAD rs1384774790, REVEL 0.34, CADD 16.40, Uncertain significance, Hypertrophic cardiomyopathy
- A20V (p.Ala20Val), gnomAD rs1016864366, REVEL 0.36, CADD 22.90, Uncertain significance, Hypertrophic cardiomyopathy
- A20P (p.Ala20Pro), gnomAD 3-46863333-C-G, REVEL 0.36, CADD 22.60
- P21A (p.Pro21Ala), rs779557153, ClinGen CA352499727, ClinVar RCV001805659, ClinVar RCV003748362, REVEL 0.18, CADD 6.31, Conflicting interpretations, Cardiomyopathy; Hypertrophic cardiomyopathy
- P21L (p.Pro21Leu), gnomAD rs1271166071
- P21S (p.Pro21Ser), rs779557153, ClinGen CA045062, ClinVar RCV001182989, ClinVar RCV001876082, REVEL 0.12, CADD 14.90, Uncertain significance, Hypertrophic cardiomyopathy 8; Cardiovascular phenotype; not provided
- A22S (p.Ala22Ser), rs1427839320, ClinGen CA352499714, ClinVar RCV003587385, gnomAD rs1427839320, AlphaMissense 0.12, MetaLR 0.50, Uncertain significance, Hypertrophic cardiomyopathy
- A22T (p.Ala22Thr), rs1427839320, ClinGen CA352499716, ClinVar RCV000786176, gnomAD rs1427839320, AlphaMissense 0.12, MetaLR 0.50, Likely pathogenic, not provided
- A22V (p.Ala22Val), rs2106914529, ClinGen CA352499709, ClinVar RCV001804520, ClinVar RCV004009093, AlphaMissense 0.09, MetaLR 0.54, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- P23L (p.Pro23Leu), cosmic curated COSV52767, TOPMed rs1430386484, gnomAD rs1430386484, REVEL 0.39, CADD 24.40
- P23S (p.Pro23Ser), NCI-TCGA Cosmic COSV5276, cosmic curated COSV52768, Variant assessed as somatic; moderate impact.
- P23P (p.Pro23Pro), rs2233264, gnomAD 3-46863322-G-A, CADD 0.62
- A24H (p.Ala24His), rs748060568, ClinGen CA045084, ClinVar RCV003024839, Uncertain significance
- A24T (p.Ala24Thr), rs758048820, ClinGen CA73781991, NCI-TCGA Cosmic COSV5276, cosmic curated COSV52767, REVEL 0.18, CADD 13.20, Uncertain significance, Hypertrophic cardiomyopathy
- A24V (p.Ala24Val), rs373278317, ClinGen CA73781973, ClinVar RCV001222973, ClinVar RCV002491701, REVEL 0.23, CADD 17.30, Uncertain significance, not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- P25H (p.Pro25His), rs2544971914, ClinGen CA352499674, ClinVar RCV004016249, REVEL 0.27, CADD 22.50, Uncertain significance, Hypertrophic cardiomyopathy
- P25S (p.Pro25Ser), rs369256548, ClinGen CA014083, ClinVar RCV000158958, ClinVar RCV002381519, REVEL 0.18, CADD 16.60, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- P25L (p.Pro25Leu), gnomAD 3-46863316-AG-A, CADD 23.80
- P26R (p.Pro26Arg), rs1702011145, ClinGen CA352499662, ClinVar RCV001182449, Ensembl rs1702011145, REVEL 0.12, CADD 13.20, Uncertain significance, Cardiomyopathy
- P26P (p.Pro26Pro), rs764784092, gnomAD 3-46863313-G-A, CADD 0.67
- P26T (p.Pro26Thr), gnomAD 3-46863315-G-T, REVEL 0.12, CADD 6.31
- P27A (p.Pro27Ala), rs1248338056, ClinGen CA352499655, ClinVar RCV001177541, ClinVar RCV002480596, AlphaMissense 0.05, MetaLR 0.40, Uncertain significance, Hypertrophic cardiomyopathy 8; Cardiomyopathy
- P27H (p.Pro27His), gnomAD rs1210373907, REVEL 0.31, CADD 22.70, Uncertain significance
- P27R (p.Pro27Arg), rs1210373907, ClinGen CA352499652, ClinVar RCV001181009, ClinVar RCV005414571, REVEL 0.29, CADD 18.90, Uncertain significance, Hypertrophic cardiomyopathy 8; Cardiomyopathy
- P27S (p.Pro27Ser), rs1248338056, ClinGen CA352499653, ClinVar RCV002035869, ClinVar RCV005416616, REVEL 0.25, AlphaMissense 0.05, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- P27P (p.Pro27Pro), rs147584015, gnomAD 3-46863310-A-G, CADD 2.43
- E28K (p.Glu28Lys), rs754220375, ClinGen CA045177, ClinVar RCV000217870, ClinVar RCV000472426, REVEL 0.18, CADD 8.01, Uncertain significance, not specified; Cardiomyopathy; Hypertrophic cardiomyopathy
- P29A (p.Pro29Ala), ExAC rs764726427, gnomAD rs764726427, REVEL 0.40, CADD 22.60
- P29P (p.Pro29Pro), gnomAD 3-46863304-A-G, CADD 4.39
- P29H (p.Pro29His), gnomAD 3-46863305-G-T, REVEL 0.52, CADD 25.90
- E30D (p.Glu30Asp), TOPMed rs1702010923, gnomAD rs1702010923, REVEL 0.23, CADD 13.10
- E30A (p.Glu30Ala), gnomAD 3-46863302-T-G, REVEL 0.30, CADD 19.80
- E30K (p.Glu30Lys), gnomAD 3-46863303-C-T, REVEL 0.36, CADD 20.10
- R31C (p.Arg31Cys), rs377026344, ClinGen CA014106, ClinVar RCV000036035, ClinVar RCV000766485, REVEL 0.18, CADD 20.60, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- R31G (p.Arg31Gly), ESP rs377026344, ExAC rs377026344, TOPMed rs377026344, gnomAD rs377026344, REVEL 0.11, CADD 17.00, Uncertain significance
- R31H (p.Arg31His), rs199639940, ClinGen CA045250, cosmic curated COSV52767, ClinVar RCV000221537, REVEL 0.25, CADD 4.21, Conflicting interpretations, Cardiovascular phenotype; not specified; Cardiomyopathy
- R31S (p.Arg31Ser), rs377026344, ClinGen CA352499607, ClinVar RCV001971038, ESP rs377026344, REVEL 0.13, CADD 15.20, Uncertain significance, Hypertrophic cardiomyopathy
- R31L (p.Arg31Leu), gnomAD 3-46863299-C-A, REVEL 0.19, CADD 2.93
- P32S (p.Pro32Ser), rs759524973, ClinGen CA045255, ClinVar RCV003860075, ClinVar RCV004369515, REVEL 0.28, CADD 17.80, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- P32P (p.Pro32Pro), rs886058582, gnomAD 3-46863295-A-T, CADD 9.33
- P32L (p.Pro32Leu), gnomAD 3-46863296-G-A, REVEL 0.36, CADD 22.30
- P32T (p.Pro32Thr), gnomAD 3-46863297-G-T, REVEL 0.28, CADD 16.40
- K33E (p.Lys33Glu), Ensembl rs867603625
- K33K (p.Lys33Lys), rs774688582, gnomAD 3-46863292-C-T, CADD 8.63
- E34D (p.Glu34Asp), rs1702010711, ClinGen CA352499559, ClinVar RCV001767762, TOPMed rs1702010711, REVEL 0.22, CADD 12.10, Uncertain significance, not provided
- E34K (p.Glu34Lys), rs1702010735, cosmic curated COSV10462, ClinGen CA352499570, cosmic curated COSV10808, REVEL 0.50, CADD 21.30, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- E34V (p.Glu34Val), rs2544971861, ClinGen CA352499563, ClinVar RCV004013378, Uncertain significance, Hypertrophic cardiomyopathy
- V35I (p.Val35Ile), rs997633110, ClinGen CA73781890, ClinVar RCV001906344, Ensembl rs997633110, AlphaMissense 0.09, MetaLR 0.35, Uncertain significance, Hypertrophic cardiomyopathy
- V35V (p.Val35Val), rs771114109, gnomAD 3-46863286-G-A, CADD 0.14
- E36* (p.Glu36Ter), NCI-TCGA Cosmic COSV5276, NCI-TCGA Cosmic COSV9943, cosmic curated COSV99439, Variant assessed as somatic; high impact.
- E36K (p.Glu36Lys), rs749941468, ClinGen CA042180, cosmic curated COSV52767, ClinVar RCV001191856, REVEL 0.11, CADD 15.00, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- E36Q (p.Glu36Gln), ExAC rs749941468, TOPMed rs749941468, gnomAD rs749941468, Uncertain significance, Cardiomyopathy
- E36V (p.Glu36Val), Ensembl rs1283215123, REVEL 0.23, CADD 13.90
- E36E (p.Glu36Glu), rs2106914319, gnomAD 3-46863283-C-T, CADD 1.64
- F37C (p.Phe37Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F37L (p.Phe37Leu), cosmic curated COSV99439, Ensembl rs2106914309, Uncertain significance, Hypertrophic cardiomyopathy
- F37S (p.Phe37Ser), rs2106914314, ClinGen CA352499523, ClinVar RCV001979662, ClinVar RCV005445521, AlphaMissense 0.97, MetaLR 0.76, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- D38D (p.Asp38Asp), gnomAD 3-46863277-A-G, CADD 6.76
- A39T (p.Ala39Thr), gnomAD 3-46863276-C-T, REVEL 0.26, CADD 15.00
- S40F (p.Ser40Phe), gnomAD 3-46863272-G-A, REVEL 0.36, CADD 24.10
- K41R (p.Lys41Arg), rs2544971830, ClinGen CA352499481, ClinVar RCV003853838, Uncertain significance, Hypertrophic cardiomyopathy
- K41M (p.Lys41Met), gnomAD 3-46863269-T-A, REVEL 0.35, CADD 25.90
- I42F (p.Ile42Phe), rs1322033572, ClinGen CA352499475, NCI-TCGA Cosmic COSV5276, cosmic curated COSV52767, REVEL 0.41, CADD 17.50, Uncertain significance, Hypertrophic cardiomyopathy; Cardiomyopathy
- I42T (p.Ile42Thr), rs2544971826, ClinGen CA352499472, ClinVar RCV004012205, ClinVar RCV005402121, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- I42V (p.Ile42Val), TOPMed rs1322033572, gnomAD rs1322033572, REVEL 0.22, CADD 4.94, Uncertain significance
- K43E (p.Lys43Glu), rs2106914291, ClinGen CA352499469, ClinVar RCV001524672, Ensembl rs2106914291, REVEL 0.26, CADD 22.20, Uncertain significance, Cardiomyopathy
- I44T (p.Ile44Thr), gnomAD 3-46860986-A-G, REVEL 0.33, CADD 24.30
- E45Q (p.Glu45Gln), rs1701987196, ClinGen CA352498901, cosmic curated COSV10587, ClinVar RCV001240712, REVEL 0.35, CADD 23.60, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- E45E (p.Glu45Glu), rs1701987162, gnomAD 3-46860982-C-T, CADD 9.37
- F46L (p.Phe46Leu), rs730880953, ClinGen CA013547, ClinVar RCV000158936, ClinVar RCV001056549, REVEL 0.36, CADD 26.70, Uncertain significance, Cardiovascular phenotype; not provided; not specified
- T47I (p.Thr47Ile), rs778515428, ClinGen CA042630, ClinVar RCV001524668, ClinVar RCV002388573, REVEL 0.48, CADD 26.40, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- T47T (p.Thr47Thr), gnomAD 3-46860976-T-C, CADD 2.20
- P48A (p.Pro48Ala), rs2106910525, ClinGen CA352498854, ClinVar RCV001760676, Ensembl rs2106910525, AlphaMissense 0.06, MetaLR 0.25, Uncertain significance, not provided
- P48H (p.Pro48His), cosmic curated COSV99439
- P48L (p.Pro48Leu), rs1231133405, ClinGen CA352498847, ClinVar RCV004007849, AlphaMissense 0.24, MetaLR 0.50, Uncertain significance, Hypertrophic cardiomyopathy
- P48R (p.Pro48Arg), gnomAD rs1231133405, REVEL 0.33, AlphaMissense 0.24, Uncertain significance, Hypertrophic cardiomyopathy
- E49D (p.Glu49Asp), rs1004231349, ClinGen CA73779714, ClinVar RCV000816475, ClinVar RCV001805891, REVEL 0.22, CADD 15.20, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- E49E (p.Glu49Glu), rs1004231349, gnomAD 3-46860970-C-T, CADD 9.97
- I51S (p.Ile51Ser), ExAC rs749017586, TOPMed rs749017586, gnomAD rs749017586, REVEL 0.72, CADD 26.70, Uncertain significance
- I51T (p.Ile51Thr), rs749017586, ClinGen CA042658, ClinVar RCV000490125, ClinVar RCV000853435, REVEL 0.44, CADD 22.70, Uncertain significance, not specified; not provided; Cardiovascular phenotype
- E52* (p.Glu52Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E52K (p.Glu52Lys), rs1355038672, ClinGen CA352498782, ClinVar RCV001763936, TOPMed rs1355038672, REVEL 0.33, CADD 23.70, Uncertain significance, Cardiovascular phenotype; not provided
- E53K (p.Glu53Lys), cosmic curated COSV52767
- F54V (p.Phe54Val), ExAC rs775106506, gnomAD rs775106506, REVEL 0.88, CADD 29.70
- F54S (p.Phe54Ser), gnomAD 3-46860822-A-G, REVEL 0.87, CADD 31.00
- K55K (p.Lys55Lys), rs397516277, gnomAD 3-46860818-C-T, CADD 12.50
- K55E (p.Lys55Glu), gnomAD 3-46860820-T-C, REVEL 0.72, CADD 27.80
- E56G (p.Glu56Gly), rs199474702, ClinGen CA013566, ClinVar RCV000024467, UniProt VAR 019842, AlphaMissense 0.91, MetaLR 0.92, not provided
- E56K (p.Glu56Lys), cosmic curated COSV10462
- A57D (p.Ala57Asp), rs139794067, ClinGen CA013575, ClinVar RCV000157371, ClinVar RCV000158937, REVEL 0.89, CADD 31.00, Uncertain significance, Hypertrophic cardiomyopathy
- A57G (p.Ala57Gly), rs139794067, ClinGen CA013589, cosmic curated COSV10609, ClinVar RCV000024471, REVEL 0.78, CADD 25.10, Uncertain significance, Hypertrophic cardiomyopathy
- A57V (p.Ala57Val), rs139794067, ClinGen CA73779525, ClinVar RCV000792858, ClinVar RCV002397569, REVEL 0.68, CADD 28.60, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 8; Hypertrophic cardiomyop
- A57T (p.Ala57Thr), gnomAD 3-46860814-C-T, REVEL 0.60, CADD 24.50
- M59I (p.Met59Ile), rs1246379576, ClinGen CA352498612, ClinVar RCV004017030, gnomAD rs1246379576, REVEL 0.19, CADD 16.60, Uncertain significance, Hypertrophic cardiomyopathy
- M59K (p.Met59Lys), ExAC rs774428107, gnomAD rs774428107
- M59L (p.Met59Leu), rs1575498261, ClinGen CA352498619, ClinVar RCV001891871, Ensembl rs1575498261, AlphaMissense 0.10, MetaLR 0.18, Uncertain significance, MYL3-related disorder; Cardiovascular phenotype
- M59T (p.Met59Thr), cosmic curated COSV52767, ExAC rs774428107, gnomAD rs774428107, REVEL 0.22, CADD 8.79
- M59V (p.Met59Val), rs1575498261, ClinGen CA352498626, ClinVar RCV003066245, ClinVar RCV004593143, AlphaMissense 0.10, MetaLR 0.18, Uncertain significance, not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- L60V (p.Leu60Val), rs1367233580, ClinGen CA352498602, ClinVar RCV001184606, ClinVar RCV003586284, REVEL 0.74, CADD 24.00, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- L60L (p.Leu60Leu), gnomAD 3-46860803-C-A, CADD 11.40
- F61F (p.Phe61Phe), rs368118534, gnomAD 3-46860800-G-A, CADD 0.98
- D62N (p.Asp62Asn), rs730880954, ClinGen CA013607, ClinVar RCV000158939, ClinVar RCV000214205, REVEL 0.81, CADD 27.40, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- D62Y (p.Asp62Tyr), gnomAD 3-46860799-C-A, REVEL 0.88, CADD 27.10
- R63C (p.Arg63Cys), rs565312070, ClinGen CA013615, cosmic curated COSV52767, ClinVar RCV000154591, REVEL 0.89, CADD 30.00, Uncertain significance, Cardiovascular phenotype; not specified; Cardiomyopathy
- R63H (p.Arg63His), rs139354105, ClinGen CA043016, cosmic curated COSV52767, ClinVar RCV000770182, REVEL 0.67, CADD 28.30, Uncertain significance, not specified; Cardiomyopathy; Cardiovascular phenotype
- R63P (p.Arg63Pro), rs139354105, ClinGen CA013628, ClinVar RCV000158940, ClinVar RCV000991351, REVEL 0.75, CADD 29.20, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy
- R63S (p.Arg63Ser), ExAC rs565312070, TOPMed rs565312070, gnomAD rs565312070, Uncertain significance
- T64I (p.Thr64Ile), rs1575498249, ClinGen CA352498526, ClinVar RCV000788333, ClinVar RCV001208425, AlphaMissense 0.88, MetaLR 0.46, Uncertain significance, Hypertrophic cardiomyopathy; not provided
- P65A (p.Pro65Ala), rs730880960, ClinGen CA352498521, ClinVar RCV001872356, TOPMed rs730880960, AlphaMissense 0.19, MetaLR 0.60, Uncertain significance, Hypertrophic cardiomyopathy
- P65R (p.Pro65Arg), rs730880955, ClinGen CA013649, ClinVar RCV000158941, ClinVar RCV002415694, REVEL 0.70, CADD 25.60, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy
- P65S (p.Pro65Ser), rs730880960, ClinGen CA013638, cosmic curated COSV10605, ClinVar RCV000158960, REVEL 0.60, AlphaMissense 0.19, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- P65T (p.Pro65Thr), rs730880960, ClinGen CA352498523, ClinVar RCV004016826, TOPMed rs730880960, REVEL 0.67, AlphaMissense 0.19, Uncertain significance, Hypertrophic cardiomyopathy
- P65P (p.Pro65Pro), rs1553639934, gnomAD 3-46860788-G-A, CADD 13.30
- P65H (p.Pro65His), gnomAD 3-46860789-G-T, REVEL 0.67, CADD 25.70
- K66R (p.Lys66Arg), gnomAD 3-46860781-CACACT, CADD 26.00
- K66K (p.Lys66Lys), rs781357657, gnomAD 3-46860785-C-T, CADD 12.90
- C67G (p.Cys67Gly), Ensembl rs1575498243
- C67Y (p.Cys67Tyr), rs2544967239, ClinGen CA352498483, ClinVar RCV003021637, ClinVar RCV004642109, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- C67W (p.Cys67Trp), gnomAD 3-46860782-A-C, REVEL 0.49, CADD 18.80
- E68K (p.Glu68Lys), ExAC rs755516554, gnomAD rs755516554, REVEL 0.59, CADD 25.10
- E68Q (p.Glu68Gln), ExAC rs755516554, gnomAD rs755516554
- E68G (p.Glu68Gly), gnomAD 3-46860780-T-C, REVEL 0.61, CADD 25.00
- M69I (p.Met69Ile), cosmic curated COSV10511
Public MYL3 analysis runs
- MYL3 analysis run — MYL3 (502 variants) — completed 2026-08-20