MYH11 (Myosin-11) variants and mutations
MYH11 (also known as Myosin-11) is a human protein-coding gene encoding a myosin-11 protein. Its smooth-muscle myosin motor generates contractile force in arteries and visceral organs. Pathogenic variants can impair aortic smooth-muscle mechanics and cause familial thoracic aortic aneurysm and dissection, sometimes with patent ductus arteriosus. This analysis covers 3,160 MYH11 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes aortic aneurysm, familial thoracic 4, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm and aortic dissection. Example MYH11 variants include M1V, A2G, and A2T.
Variant analysis overview
- Gene: MYH11
- Protein: Myosin-11
- UniProt accession: P35749
- Organism: Homo sapiens
- Variants analyzed: 3160
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 2,983 unspecified-consequence records; 77 missense variants; 79 synonymous variants; 4 in-frame deletions; 6 frameshift variants; 4 stop-gained variants; 1 in-frame insertions; 2 stop lost; 1 stop retained variant; 3 splice-region variants
- Prediction scores: 2,211 variants have prediction scores (70% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: aortic aneurysm, familial thoracic 4, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, familial thoracic aortic aneurysm and aortic dissection, visceral myopathy 2, neurodegenerative disease, familial visceral myopathy, Rare genetic vascular disease, megacystis-microcolon-intestinal hypoperistalsis syndrome 1, megacystis-microcolon-intestinal hypoperistalsis syndrome, coronary artery disorder, atrial fibrillation, endometriosis.
Protein structure and variant hotspots
- Protein features: 3 domains; 1 binding sites; 10 post-translational modification sites.
- Structural context: 1,020 variants have structural context.
- PTM context: 16 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 MYH11 variants
Examples include M1V, A2G, A2T, A2V, Q3K, K4N, K4T, G5D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs1555459260, ClinGen CA395199332, ClinVar RCV000613766, MetaLR 0.51, MetaSVM -0.01, Likely pathogenic, Familial thoracic aortic aneurysm and aortic dissection
- A2G (p.Ala2Gly), NCI-TCGA TCGA novel, REVEL 0.41, CADD 23.80, Variant assessed as somatic; moderate impact.
- A2T (p.Ala2Thr), cosmic curated COSV55559
- A2V (p.Ala2Val), rs150600829, ClinGen CA278998957, cosmic curated COSV55551, ClinVar RCV000774262, REVEL 0.41, CADD 22.80, Uncertain significance, Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperis
- Q3K (p.Gln3Lys), rs1363516524, TOPMed rs1363516524, AlphaMissense 0.09, MetaLR 0.41, Variant assessed as somatic; moderate impact.
- K4N (p.Lys4Asn), cosmic curated COSV10942, REVEL 0.26, CADD 7.54
- K4T (p.Lys4Thr), cosmic curated COSV10642
- G5D (p.Gly5Asp), Ensembl rs2043958746
- G5S (p.Gly5Ser), cosmic curated COSV55549
- L7V (p.Leu7Val), gnomAD rs1461846939, REVEL 0.33, CADD 20.80
- D9N (p.Asp9Asn), gnomAD rs1301566011, REVEL 0.47, CADD 23.70
- D10G (p.Asp10Gly), Ensembl rs2151381612, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- D10H (p.Asp10His), TOPMed rs2043958315, gnomAD rs2043958315, REVEL 0.47, CADD 25.30, Uncertain significance, Aortic aneurysm, familial thoracic 4
- D10N (p.Asp10Asn), rs2043958315, ClinGen CA395199127, NCI-TCGA Cosmic COSV5556, cosmic curated COSV55562, REVEL 0.39, CADD 22.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- D10Y (p.Asp10Tyr), rs2043958315, ClinGen CA395199123, ClinVar RCV001190837, TOPMed rs2043958315, REVEL 0.56, CADD 25.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E11D (p.Glu11Asp), rs148562366, ClinGen CA7923131, cosmic curated COSV10589, ClinVar RCV000549599, REVEL 0.23, CADD 17.80, Likely benign, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- E11K (p.Glu11Lys), gnomAD rs200925534
- E11V (p.Glu11Val), rs2507039048, ClinGen CA395199093, ClinVar RCV004013883, NCI-TCGA TCGA novel, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- K12E (p.Lys12Glu), rs2043957775, ClinGen CA395199081, ClinVar RCV003340757, Ensembl rs2043957775, REVEL 0.47, CADD 23.90, Uncertain significance, Aortic aneurysm, familial thoracic 4
- K12N (p.Lys12Asn), rs2043957693, ClinGen CA395199061, ClinVar RCV003851990, ClinVar RCV003893519, REVEL 0.58, CADD 23.10, Uncertain significance, Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- L14F (p.Leu14Phe), cosmic curated COSV55573
- L14P (p.Leu14Pro), cosmic curated COSV10517, ExAC rs745386427, gnomAD rs745386427, REVEL 0.94, CADD 28.10
- F15S (p.Phe15Ser), Ensembl rs2043957542, REVEL 0.60, CADD 22.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V16A (p.Val16Ala), rs778352596, ClinGen CA7923129, ClinVar RCV001969716, ExAC rs778352596, REVEL 0.58, CADD 22.70, Uncertain significance, Aortic aneurysm, familial thoracic 4
- D17H (p.Asp17His), Ensembl rs2151381579, REVEL 0.87, CADD 25.90
- K18E (p.Lys18Glu), cosmic curated COSV10809
- K18R (p.Lys18Arg), rs756777282, ClinGen CA7923128, ClinVar RCV000474049, ClinVar RCV001179119, REVEL 0.28, CADD 18.00, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- K18T (p.Lys18Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N19H (p.Asn19His), cosmic curated COSV10589
- N19K (p.Asn19Lys), rs148464745, ClinGen CA395198916, ClinVar RCV001183946, 1000Genomes rs148464745, REVEL 0.25, CADD 18.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- F20C (p.Phe20Cys), rs2043957002, ClinGen CA395198898, ClinVar RCV001179929, Ensembl rs2043957002, AlphaMissense 0.14, MetaLR 0.58, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- I21M (p.Ile21Met), ExAC rs755935176, TOPMed rs755935176, gnomAD rs755935176, REVEL 0.20, CADD 14.70, Likely benign
- I21T (p.Ile21Thr), rs777372840, ClinGen CA7923126, ClinVar RCV001057777, ClinVar RCV001182335, REVEL 0.32, CADD 21.60, Conflicting interpretations, not specified; Aortic aneurysm, familial thoracic 4; Familial thoracic aortic an
- N22H (p.Asn22His), TOPMed rs1233739451
- N22S (p.Asn22Ser), rs1321407433, ClinGen CA395198858, ClinVar RCV004015994, TOPMed rs1321407433, REVEL 0.37, CADD 21.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- S23I (p.Ser23Ile), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10025, Variant assessed as somatic; moderate impact.
- P24A (p.Pro24Ala), rs752441599, ClinGen CA7923124, ClinVar RCV000700231, ClinVar RCV002360794, REVEL 0.45, CADD 21.40, Uncertain significance, Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon
- V25A (p.Val25Ala), TOPMed rs1203094266, gnomAD rs1203094266, REVEL 0.25, AlphaMissense 0.12
- V25G (p.Val25Gly), rs1203094266, ClinGen CA395198796, ClinVar RCV003092578, AlphaMissense 0.12, MetaLR 0.20, Uncertain significance, Aortic aneurysm, familial thoracic 4
- A26D (p.Ala26Asp), ExAC rs767457782, TOPMed rs767457782, gnomAD rs767457782, REVEL 0.64, AlphaMissense 0.46, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A26G (p.Ala26Gly), rs767457782, ClinGen CA395198788, ClinVar RCV004012244, AlphaMissense 0.46, MetaLR 0.49, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A26S (p.Ala26Ser), rs2507038531, ClinGen CA395198791, ClinVar RCV004014190, ClinVar RCV006483829, REVEL 0.43, CADD 21.10, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- A26V (p.Ala26Val), rs767457782, ClinGen CA395198787, ClinVar RCV004013413, ExAC rs767457782, REVEL 0.58, AlphaMissense 0.46, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A28V (p.Ala28Val), cosmic curated COSV10589, REVEL 0.57, CADD 23.00
- D29A (p.Asp29Ala), rs2151381525, ClinGen CA395198748, ClinVar RCV001524464, Ensembl rs2151381525, AlphaMissense 0.56, MetaLR 0.57, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- D29E (p.Asp29Glu), TOPMed rs2043955262
- D29N (p.Asp29Asn), rs998492066, NCI-TCGA Cosmic COSV5555, cosmic curated COSV55555, Ensembl rs998492066, REVEL 0.60, CADD 26.00, Variant assessed as somatic; moderate impact.
- W30C (p.Trp30Cys), gnomAD rs1204156266, REVEL 0.76, CADD 24.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided
- A32G (p.Ala32Gly), rs2043954639, ClinGen CA395198704, ClinVar RCV003479718, ClinVar RCV003779192, AlphaMissense 0.16, MetaLR 0.52, Uncertain significance, not specified; Familial thoracic aortic aneurysm and aortic dissection; Aortic a
- A32P (p.Ala32Pro), rs765295579, ClinGen CA7923121, ClinVar RCV001886458, ExAC rs765295579, REVEL 0.68, CADD 25.20, Uncertain significance, Aortic aneurysm, familial thoracic 4
- A32S (p.Ala32Ser), rs765295579, ClinGen CA395198708, ClinVar RCV004452118, REVEL 0.35, CADD 19.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A32T (p.Ala32Thr), rs765295579, ClinGen CA306625, ClinVar RCV000182539, ClinVar RCV001185745, REVEL 0.41, CADD 21.90, Uncertain significance, not provided; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2
- K33N (p.Lys33Asn), rs886038944, ClinGen CA10587903, ClinVar RCV002310861, ClinVar RCV005090282, REVEL 0.66, CADD 23.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- K33R (p.Lys33Arg), rs2043954401, ClinGen CA395198688, ClinVar RCV001897235, ClinVar RCV002386652, REVEL 0.45, CADD 22.00, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- R34K (p.Arg34Lys), rs199654191, ClinGen CA395198677, ClinVar RCV001804661, ExAC rs199654191, AlphaMissense 0.61, MetaLR 0.50, Likely benign, Familial thoracic aortic aneurysm and aortic dissection
- R34T (p.Arg34Thr), rs199654191, ClinGen CA7923119, ClinVar RCV000374025, ClinVar RCV000802770, REVEL 0.34, AlphaMissense 0.61, Uncertain significance, Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperis
- V36A (p.Val36Ala), rs2507038174, ClinGen CA395198665, ClinVar RCV004013150, ClinVar RCV005103237, REVEL 0.89, CADD 26.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- V36I (p.Val36Ile), rs959014769, ClinGen CA278998951, NCI-TCGA Cosmic COSV5554, cosmic curated COSV55547, REVEL 0.60, CADD 24.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V36L (p.Val36Leu), cosmic curated COSV55567
- V38I (p.Val38Ile), cosmic curated COSV55565, gnomAD rs1226021715, REVEL 0.20, CADD 14.30
- P39A (p.Pro39Ala), rs761131497, ClinGen CA7923117, ClinVar RCV002681173, ClinVar RCV003167607, REVEL 0.51, CADD 23.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- P39L (p.Pro39Leu), NCI-TCGA Cosmic COSV5555, cosmic curated COSV55554, REVEL 0.63, CADD 27.80, Variant assessed as somatic; moderate impact.
- P39S (p.Pro39Ser), rs761131497, ExAC rs761131497, TOPMed rs761131497, gnomAD rs761131497, REVEL 0.67, CADD 26.30, Uncertain significance
- P39T (p.Pro39Thr), rs761131497, ClinGen CA7923118, ClinVar RCV001181172, ClinVar RCV002559777, REVEL 0.67, CADD 25.90, Uncertain significance, Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- S40L (p.Ser40Leu), rs775927183, ClinGen CA7923116, ClinVar RCV000498548, ClinVar RCV001188968, REVEL 0.84, CADD 28.90, Uncertain significance, not specified; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2
- E41K (p.Glu41Lys), rs2507038027, ClinGen CA395198638, ClinVar RCV003528676, REVEL 0.64, CADD 26.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E41Q (p.Glu41Gln), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10025, Variant assessed as somatic; moderate impact.
- E41R (p.Glu41Arg), NCI-TCGA Cosmic COSV1002, Variant assessed as somatic; high impact.
- K42Q (p.Lys42Gln), gnomAD rs1303933614, REVEL 0.48, CADD 23.70
- Q43L (p.Gln43Leu), cosmic curated COSV10609
- F45V (p.Phe45Val), rs746419144, ClinGen CA7923114, ClinVar RCV001524074, ClinVar RCV005628913, REVEL 0.95, CADD 27.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided
- E46K (p.Glu46Lys), rs866047937, ClinGen CA278998949, ClinVar RCV003629707, ClinVar RCV004005871, REVEL 0.72, CADD 24.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- E46Q (p.Glu46Gln), rs866047937, ClinGen CA395198601, NCI-TCGA Cosmic COSV5556, cosmic curated COSV55564, REVEL 0.49, CADD 23.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A47E (p.Ala47Glu), Ensembl rs2043952484
- A47S (p.Ala47Ser), rs2043952602, ClinGen CA395198592, ClinVar RCV003528675, TOPMed rs2043952602, REVEL 0.36, CADD 20.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A48S (p.Ala48Ser), rs2151381454, ClinGen CA395198588, ClinVar RCV001523856, Ensembl rs2151381454, AlphaMissense 0.34, MetaLR 0.80, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- S49N (p.Ser49Asn), gnomAD rs1471463253, REVEL 0.44, CADD 24.60
- I50V (p.Ile50Val), rs2043952063, ClinGen CA395198573, ClinVar RCV003818860, Ensembl rs2043952063, REVEL 0.25, CADD 16.10, Uncertain significance, Aortic aneurysm, familial thoracic 4
- K51E (p.Lys51Glu), rs2043951986, ClinGen CA395198566, ClinVar RCV001186178, ClinVar RCV005405529, REVEL 0.65, CADD 25.80, Uncertain significance, Cardiovascular phenotype; Familial thoracic aortic aneurysm and aortic dissectio
- K51M (p.Lys51Met), rs748791569, ClinGen CA7923112, ClinVar RCV000774392, ExAC rs748791569, REVEL 0.69, CADD 26.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E52G (p.Glu52Gly), rs1567211756, ClinGen CA395198557, ClinVar RCV000772812, ClinVar RCV000795493, REVEL 0.65, CADD 25.80, Uncertain significance, Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- E52K (p.Glu52Lys), rs2151381441, ClinGen CA395198560, ClinVar RCV002015247, ClinVar RCV004011092, AlphaMissense 0.39, MetaLR 0.59, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- E52Q (p.Glu52Gln), rs2151381441, ClinGen CA395198559, ClinVar RCV003528674, REVEL 0.44, AlphaMissense 0.39, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E53D (p.Glu53Asp), cosmic curated COSV55548, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E53K (p.Glu53Lys), cosmic curated COSV10460
- K54N (p.Lys54Asn), rs138407222, NCI-TCGA Cosmic COSV5554, cosmic curated COSV55547, ESP rs138407222, REVEL 0.33, CADD 15.50, Likely benign
- K54R (p.Lys54Arg), rs1015353331, ClinGen CA278998948, ClinVar RCV000772796, ClinVar RCV001280976, REVEL 0.18, CADD 19.60, Uncertain significance, Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperis
- G55E (p.Gly55Glu), cosmic curated COSV10809, REVEL 0.86, CADD 23.70
- G55R (p.Gly55Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D56E (p.Asp56Glu), rs2507037561, ClinGen CA395198525, ClinVar RCV003528673, REVEL 0.35, CADD 13.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- D56N (p.Asp56Asn), cosmic curated COSV10642
- D56V (p.Asp56Val), cosmic curated COSV10517
- E57D (p.Glu57Asp), cosmic curated COSV10589
- E57K (p.Glu57Lys), Ensembl rs2043951177, REVEL 0.57, CADD 24.60
- V59I (p.Val59Ile), rs2507037457, ClinGen CA395198510, ClinVar RCV002401650, Likely benign, Familial thoracic aortic aneurysm and aortic dissection
- V60M (p.Val60Met), rs2043950934, ClinGen CA395198504, ClinVar RCV004013547, TOPMed rs2043950934, REVEL 0.74, CADD 25.10, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E61K (p.Glu61Lys), cosmic curated COSV10517
- E61Q (p.Glu61Gln), rs2043950817, ClinGen CA395198497, ClinVar RCV001183283, Ensembl rs2043950817, REVEL 0.65, CADD 25.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V63A (p.Val63Ala), rs2043950389, ClinGen CA395198481, ClinVar RCV001805470, Ensembl rs2043950389, AlphaMissense 0.06, MetaLR 0.16, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V63E (p.Val63Glu), Ensembl rs2043950389, REVEL 0.39, AlphaMissense 0.06, Uncertain significance, Aortic aneurysm, familial thoracic 4
- V63M (p.Val63Met), gnomAD rs1487939259, REVEL 0.20, CADD 20.50
- E64D (p.Glu64Asp), gnomAD rs1263242137, REVEL 0.16, CADD 15.40
- E64Q (p.Glu64Gln), rs886038997, ClinGen CA10587901, ClinVar RCV002310940, Ensembl rs886038997, AlphaMissense 0.22, MetaLR 0.65, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- G66C (p.Gly66Cys), cosmic curated COSV55571
- K67R (p.Lys67Arg), rs777426396, ClinGen CA7923111, ClinVar RCV001367514, ClinVar RCV001806151, REVEL 0.27, CADD 21.70, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- K68E (p.Lys68Glu), rs201872782, ClinGen CA278998944, ClinVar RCV001188411, 1000Genomes rs201872782, AlphaMissense 0.32, MetaLR 0.42, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- K68N (p.Lys68Asn), rs111777997, ClinGen CA7923110, ClinVar RCV001181793, ClinVar RCV004695128, REVEL 0.56, CADD 25.10, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection
- K68T (p.Lys68Thr), Ensembl rs1567211695
- V69A (p.Val69Ala), 1000Genomes rs538460777, ExAC rs538460777, gnomAD rs538460777, REVEL 0.22, CADD 22.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V69G (p.Val69Gly), cosmic curated COSV55571
- V69I (p.Val69Ile), rs371215641, ClinGen CA7923108, ClinVar RCV002421947, ClinVar RCV005239431, REVEL 0.16, CADD 14.90, Conflicting interpretations, not specified; Familial thoracic aortic aneurysm and aortic dissection
- V69L (p.Val69Leu), ESP rs371215641, ExAC rs371215641, gnomAD rs371215641, Likely benign
- T70K (p.Thr70Lys), cosmic curated COSV55573, REVEL 0.40, CADD 20.90
- T70M (p.Thr70Met), rs1222746393, ClinGen CA395198437, NCI-TCGA Cosmic COSV5554, cosmic curated COSV55542, REVEL 0.45, CADD 22.20, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V71A (p.Val71Ala), TOPMed rs1284290610, gnomAD rs1284290610, REVEL 0.67, CADD 24.70
- V71D (p.Val71Asp), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55563, Variant assessed as somatic; moderate impact.
- G72R (p.Gly72Arg), rs2043948568, ClinGen CA395198429, ClinVar RCV001916068, ClinVar RCV004010857, REVEL 0.22, CADD 19.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- G72V (p.Gly72Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K73N (p.Lys73Asn), ExAC rs757303383, gnomAD rs757303383, REVEL 0.56, CADD 22.90
- K73Q (p.Lys73Gln), rs147447269, ClinGen CA306628, ClinVar RCV000182540, ClinVar RCV000233878, REVEL 0.69, CADD 25.90, Conflicting interpretations, Connective tissue disorder; not specified; not provided
- K73T (p.Lys73Thr), Ensembl rs2043948148, REVEL 0.86, CADD 26.90
- D74G (p.Asp74Gly), TOPMed rs1454312109, gnomAD rs1454312109, REVEL 0.91, CADD 28.10
- D74Y (p.Asp74Tyr), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55568, Variant assessed as somatic; moderate impact.
- Q77* (p.Gln77Ter), rs1567211625, ClinGen CA395198393, ClinVar RCV000774190, Ensembl rs1567211625, Uncertain significance
- K78E (p.Lys78Glu), rs2151381334, ClinGen CA395198386, ClinVar RCV001703082, Ensembl rs2151381334, AlphaMissense 0.85, MetaLR 0.40, Uncertain significance, not provided
- M79I (p.Met79Ile), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55568, REVEL 0.67, CADD 25.40, Variant assessed as somatic; moderate impact.
- M79K (p.Met79Lys), ESP rs368641001, ExAC rs368641001, gnomAD rs368641001, REVEL 0.79, CADD 27.10
- M79L (p.Met79Leu), rs2151381331, ClinGen CA395198379, ClinVar RCV001524024, Ensembl rs2151381331, AlphaMissense 0.75, MetaLR 0.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- N80S (p.Asn80Ser), cosmic curated COSV10735
- P81S (p.Pro81Ser), ExAC rs764413626, gnomAD rs764413626, REVEL 0.74, CADD 26.80
- P81T (p.Pro81Thr), cosmic curated COSV55560
- P82H (p.Pro82His), Ensembl rs2043946927, REVEL 0.74, CADD 27.70
- P82S (p.Pro82Ser), rs1431217461, ClinGen CA395198356, ClinVar RCV003168168, TOPMed rs1431217461, REVEL 0.66, CADD 26.80, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- P82T (p.Pro82Thr), rs1431217461, ClinGen CA395198358, ClinVar RCV002313402, ClinVar RCV003629129, REVEL 0.71, CADD 26.30, Uncertain significance, Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- K83R (p.Lys83Arg), cosmic curated COSV55573
- S85F (p.Ser85Phe), rs148687580, ClinGen CA278998942, cosmic curated COSV55571, ClinVar RCV001176690, AlphaMissense 0.52, MetaLR 0.54, Uncertain significance, Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- S85Y (p.Ser85Tyr), Ensembl rs148687580, REVEL 0.50, AlphaMissense 0.52, Uncertain significance
- K86R (p.Lys86Arg), 1000Genomes rs185409096, ExAC rs185409096, gnomAD rs185409096, REVEL 0.50, CADD 27.00
- V87A (p.Val87Ala), rs2507036531, ClinGen CA395198320, ClinVar RCV003486454, REVEL 0.70, CADD 23.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V87L (p.Val87Leu), rs1488968785, ClinGen CA395198324, ClinVar RCV001932865, ClinVar RCV004822954, AlphaMissense 0.66, MetaLR 0.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- V87M (p.Val87Met), rs1488968785, ClinGen CA395198322, ClinVar RCV003380082, TOPMed rs1488968785, REVEL 0.65, AlphaMissense 0.66, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E88K (p.Glu88Lys), rs1432299511, gnomAD rs1432299511, REVEL 0.89, CADD 27.00, Variant assessed as somatic; moderate impact.
- D89E (p.Asp89Glu), rs775840903, ClinGen CA7923101, ClinVar RCV001805509, ClinVar RCV002541435, REVEL 0.84, CADD 24.70, Uncertain significance, Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- D89Y (p.Asp89Tyr), rs2043945984, ClinGen CA395198310, ClinVar RCV001352499, Ensembl rs2043945984, AlphaMissense 0.99, MetaLR 0.89, Uncertain significance, Aortic aneurysm, familial thoracic 4
- M90I (p.Met90Ile), rs2507036418, NCI-TCGA TCGA novel, ClinGen CA395198296, ClinVar RCV003630639, Uncertain significance, Aortic aneurysm, familial thoracic 4
- M90V (p.Met90Val), rs1187770545, ClinGen CA395198302, ClinVar RCV001374833, ClinVar RCV004807488, REVEL 0.91, CADD 25.10, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Isolated thoracic aorti
- A91V (p.Ala91Val), rs1555459204, ClinGen CA395198289, NCI-TCGA Cosmic COSV5556, cosmic curated COSV55569, REVEL 0.71, CADD 27.50, Uncertain significance, Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- E92K (p.Glu92Lys), cosmic curated COSV55566
- T94M (p.Thr94Met), rs794728681, ClinGen CA306697, cosmic curated COSV10517, ClinVar RCV000182567, REVEL 0.81, AlphaMissense 0.74, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- T94R (p.Thr94Arg), rs794728681, ClinGen CA395198271, cosmic curated COSV10735, ClinVar RCV001185334, AlphaMissense 0.74, MetaLR 0.84, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- N97K (p.Asn97Lys), rs113363750, ClinGen CA306631, ClinVar RCV000182541, ClinVar RCV001852319, AlphaMissense 1.00, MetaLR 0.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- N97S (p.Asn97Ser), gnomAD rs1257012799, REVEL 0.61, CADD 24.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- E98D (p.Glu98Asp), rs864309563, ClinGen CA277883, ClinVar RCV000202901, ClinVar RCV001189910, AlphaMissense 0.92, MetaLR 0.81, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- E98G (p.Glu98Gly), NCI-TCGA Cosmic COSV5556, cosmic curated COSV55567, Variant assessed as somatic; moderate impact.
- E98K (p.Glu98Lys), rs773587055, ClinGen CA278998941, NCI-TCGA Cosmic COSV5555, cosmic curated COSV55558, REVEL 0.88, CADD 25.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- A99P (p.Ala99Pro), gnomAD rs1245092974, REVEL 0.64, CADD 24.30
- A99V (p.Ala99Val), rs2507036235, ClinGen CA395198238, ClinVar RCV004015267, REVEL 0.75, CADD 24.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- S100F (p.Ser100Phe), cosmic curated COSV55564
- V101L (p.Val101Leu), rs375159635, ClinGen CA395198231, ClinVar RCV004012767, REVEL 0.73, CADD 23.30, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V101M (p.Val101Met), rs375159635, ClinGen CA306634, cosmic curated COSV55546, ClinVar RCV000182542, REVEL 0.82, CADD 23.60, Uncertain significance, not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- H103Y (p.His103Tyr), rs2507036168, ClinGen CA395198219, ClinVar RCV004010060, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- L105P (p.Leu105Pro), NCI-TCGA Cosmic COSV5554, cosmic curated COSV55545, Variant assessed as somatic; moderate impact.
- L105V (p.Leu105Val), Ensembl rs2151381248
- R106S (p.Arg106Ser), ExAC rs747859212, TOPMed rs747859212, gnomAD rs747859212, REVEL 0.73, CADD 22.30, Likely benign
- E107K (p.Glu107Lys), cosmic curated COSV10460
- E107Q (p.Glu107Gln), rs2507036062, ClinGen CA395198193, ClinVar RCV004513793, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- R108Q (p.Arg108Gln), cosmic curated COSV10589, NCI-TCGA TCGA novel, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- R108W (p.Arg108Trp), rs2043943581, ClinGen CA395198185, cosmic curated COSV55565, ClinVar RCV004014129, REVEL 0.87, CADD 22.80, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- Y109H (p.Tyr109His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S111* (p.Ser111Ter), NCI-TCGA Cosmic COSV1002, cosmic curated COSV10025, Variant assessed as somatic; high impact.
- G112R (p.Gly112Arg), cosmic curated COSV55566, REVEL 0.66, CADD 23.20
- G112W (p.Gly112Trp), NCI-TCGA Cosmic COSV5556, Variant assessed as somatic; moderate impact.
- I114T (p.Ile114Thr), Ensembl rs1567211480, REVEL 0.90, CADD 24.30
- Y115C (p.Tyr115Cys), gnomAD rs1465301521, REVEL 0.93, CADD 29.50
- Y115H (p.Tyr115His), cosmic curated COSV55550, Uncertain significance, Aortic aneurysm, familial thoracic 4
- T116=, rs781275376, NCI-TCGA Cosmic COSV5554, Likely benign
- T116M (p.Thr116Met), rs1220795088, ClinGen CA394882926, NCI-TCGA Cosmic COSV5555, cosmic curated COSV55551, REVEL 0.89, CADD 32.00, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Y117F (p.Tyr117Phe), rs2151359917, ClinGen CA394882907, ClinVar RCV001805434, Ensembl rs2151359917, AlphaMissense 0.64, MetaLR 0.63, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- L120V (p.Leu120Val), ExAC rs766831176, gnomAD rs766831176, REVEL 0.86, CADD 26.10, Uncertain significance, not provided
- C122* (p.Cys122Ter), ESP rs372775942, ExAC rs372775942, TOPMed rs372775942, gnomAD rs372775942, Likely benign
Public MYH11 analysis runs
- MYH11 analysis run — MYH11 (3,160 variants) — completed 2026-08-19