MYLK (Q15746) variants and mutations
MYLK (also known as Q15746) is a human protein-coding gene encoding a myosin light chain kinase, smooth muscle protein. It phosphorylates myosin regulatory light chains to initiate smooth-muscle contraction in blood vessels and visceral tissues. Pathogenic loss-of-function variants can reduce arterial contractile integrity and cause familial thoracic aortic aneurysm and dissection. This analysis covers 2,639 MYLK variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes aortic aneurysm, familial thoracic 7, familial thoracic aortic aneurysm and aortic dissection, and megacystis-microcolon-intestinal hypoperistalsis syndrome 1. Example MYLK variants include M1V, G2E, and D3N.
Variant analysis overview
- Gene: MYLK
- Protein: Q15746
- UniProt accession: Q15746
- Organism: Homo sapiens
- Variants analyzed: 2639
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 2,455 unspecified-consequence records; 5 stop lost; 3 in-frame insertions; 4 in-frame deletions; 89 synonymous variants; 4 splice-region variants; 67 missense variants; 5 frameshift variants; 4 stop-gained variants; 3 substitution
- Prediction scores: 1,883 variants have prediction scores (71% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: aortic aneurysm, familial thoracic 7, familial thoracic aortic aneurysm and aortic dissection, megacystis-microcolon-intestinal hypoperistalsis syndrome 1, megacystis-microcolon-intestinal hypoperistalsis syndrome, Rare genetic vascular disease, Rare disease with thoracic aortic aneurysm and aortic dissection, neurodegenerative disease, familial visceral myopathy, visceral myopathy 1, Familial hemophagocytic lymphohistiocytosis, connective tissue disorder, thoracic aortic aneurysm.
Protein structure and variant hotspots
- Protein features: 11 domains; 2 binding sites; 25 post-translational modification sites.
- Structural context: 1,534 variants have structural context.
- PTM context: 29 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable MYLK variants
Examples include M1V, G2E, D3N, D3V, D3Y, K5N, L6P, V7A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs776588381, ClinGen CA068288, ClinVar RCV001058087, ClinVar RCV002223977, Uncertain significance, Aortic aneurysm, familial thoracic 7; not provided
- G2E (p.Gly2Glu), gnomAD rs1178879948, REVEL 0.38, CADD 24.20
- D3N (p.Asp3Asn), TOPMed rs2064882893, gnomAD rs2064882893, REVEL 0.23, CADD 25.50, Uncertain significance
- D3V (p.Asp3Val), ExAC rs746869917, gnomAD rs746869917, REVEL 0.46, CADD 26.90
- D3Y (p.Asp3Tyr), rs2064882893, ClinGen CA354237408, ClinVar RCV001337529, ClinVar RCV001587355, REVEL 0.37, CADD 25.70, Uncertain significance, not provided; Aortic aneurysm, familial thoracic 7; Familial thoracic aortic ane
- K5N (p.Lys5Asn), rs777696799, ClinGen CA067577, ClinVar RCV001237981, ClinVar RCV001751470, REVEL 0.12, CADD 23.50, Uncertain significance, Aortic aneurysm, familial thoracic 7
- L6P (p.Leu6Pro), rs2109106403, ClinGen CA354237369, ClinVar RCV001799372, Ensembl rs2109106403, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V7A (p.Val7Ala), Ensembl rs544813700
- V7I (p.Val7Ile), TOPMed rs908417992
- A8T (p.Ala8Thr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- A8V (p.Ala8Val), rs1291689727, ClinGen CA354237345, ClinVar RCV003177720, TOPMed rs1291689727, REVEL 0.12, CADD 22.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- S9L (p.Ser9Leu), rs779148876, ClinGen CA069134, cosmic curated COSV10740, ClinVar RCV001757341, REVEL 0.07, CADD 22.30, Conflicting interpretations, not provided; Aortic aneurysm, familial thoracic 7; Familial thoracic aortic ane
- S10P (p.Ser10Pro), Ensembl rs866120445
- H11Q (p.His11Gln), rs2064881269, NCI-TCGA TCGA novel, ClinGen CA354237309, ClinVar RCV002452017, REVEL 0.08, CADD 11.20, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection
- I12V (p.Ile12Val), TOPMed rs907838812, gnomAD rs907838812, REVEL 0.04, CADD 0.15, Uncertain significance, not provided; Aortic aneurysm, familial thoracic 7
- T15S (p.Thr15Ser), Ensembl rs2064881068
- S16F (p.Ser16Phe), rs1232197656, ClinGen CA354236813, ClinVar RCV001230272, ClinVar RCV002327549, REVEL 0.18, CADD 24.10, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- L17F (p.Leu17Phe), rs1048197599, ClinGen CA16622005, ClinVar RCV000703836, gnomAD rs1048197599, REVEL 0.06, CADD 15.70, Uncertain significance, Aortic aneurysm, familial thoracic 7
- S18G (p.Ser18Gly), rs2064880654, ClinGen CA354236800, ClinVar RCV002344575, TOPMed rs2064880654, REVEL 0.05, CADD 8.89, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- D20A (p.Asp20Ala), ExAC rs754336184, gnomAD rs754336184, REVEL 0.04, CADD 16.90
- D20E (p.Asp20Glu), ExAC rs780654221, TOPMed rs780654221, gnomAD rs780654221, REVEL 0.07, CADD 10.10, Likely benign
- D20N (p.Asp20Asn), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- P21H (p.Pro21His), rs28497577, ClinGen CA073389, cosmic curated COSV60607, ClinVar RCV000222218, REVEL 0.12, CADD 7.56, Benign/Likely benign, Familial thoracic aortic aneurysm and aortic dissection; not specified; Aortic a
- P21L (p.Pro21Leu), cosmic curated COSV60609, 1000Genomes rs28497577, ESP rs28497577, ExAC rs28497577, REVEL 0.11, CADD 10.30, Benign
- P21S (p.Pro21Ser), cosmic curated COSV10466, gnomAD rs199706302, REVEL 0.03, CADD 8.19, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- P21Y (p.Pro21Tyr), rs2475202529, ClinGen CA2580068655, ClinVar RCV003052983, Uncertain significance, Aortic aneurysm, familial thoracic 7
- S22L (p.Ser22Leu), rs1402959688, ClinGen CA354236741, ClinVar RCV003527297, gnomAD rs1402959688, REVEL 0.14, CADD 24.20, Uncertain significance, Aortic aneurysm, familial thoracic 7
- S22P (p.Ser22Pro), Ensembl rs866621006
- R23G (p.Arg23Gly), rs767799002, ClinGen CA073444, cosmic curated COSV10525, ClinVar RCV003527033, REVEL 0.02, CADD 10.10, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- R23K (p.Arg23Lys), ExAC rs762603388, REVEL 0.04, CADD 6.70
- R23S (p.Arg23Ser), rs146297620, ClinGen CA073466, ClinVar RCV001419212, ClinVar RCV002372398, REVEL 0.04, CADD 7.34, Likely benign, Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- V24F (p.Val24Phe), rs764755866, ClinGen CA073471, ClinVar RCV002367366, ClinVar RCV004809826, REVEL 0.14, CADD 3.15, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- V24I (p.Val24Ile), ExAC rs764755866, TOPMed rs764755866, gnomAD rs764755866, REVEL 0.08, CADD 0.07, Uncertain significance
- S26P (p.Ser26Pro), TOPMed rs2064878803, REVEL 0.19, CADD 20.70
- M27V (p.Met27Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P28H (p.Pro28His), ESP rs141974889, ExAC rs141974889, TOPMed rs141974889, gnomAD rs141974889, Uncertain significance
- P28L (p.Pro28Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, REVEL 0.09, CADD 23.50, Variant assessed as somatic; moderate impact.
- P28R (p.Pro28Arg), rs141974889, ClinGen CA073689, ClinVar RCV003345874, ClinVar RCV003641091, REVEL 0.17, CADD 24.80, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- P28S (p.Pro28Ser), TOPMed rs1398096300, REVEL 0.17, CADD 22.40, Uncertain significance, Aortic aneurysm, familial thoracic 7
- P28T (p.Pro28Thr), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- E31G (p.Glu31Gly), rs2064878239, ClinGen CA354236632, ClinVar RCV001759211, ClinVar RCV001868710, REVEL 0.33, CADD 28.80, Uncertain significance, Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- E31E (p.Glu31Glu), gnomAD 3-123614111-T-C, CADD 8.65
- A32T (p.Ala32Thr), rs948848516, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, TOPMed rs948848516, REVEL 0.15, CADD 23.60, Uncertain significance, not specified
- A32V (p.Ala32Val), TOPMed rs2064877993, REVEL 0.22, CADD 26.60, Uncertain significance, Aortic aneurysm, familial thoracic 7
- P33A (p.Pro33Ala), ExAC rs770959360, TOPMed rs770959360, gnomAD rs770959360, REVEL 0.44, CADD 25.30, Uncertain significance
- P33S (p.Pro33Ser), rs770959360, ClinGen CA354236609, ClinVar RCV001303158, ClinVar RCV002384366, REVEL 0.41, CADD 26.20, Uncertain significance, Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- A34T (p.Ala34Thr), rs760526212, ClinGen CA066619, ClinVar RCV001322511, ExAC rs760526212, REVEL 0.10, CADD 22.40, Uncertain significance, Aortic aneurysm, familial thoracic 7
- A34V (p.Ala34Val), ExAC rs773146142, TOPMed rs773146142, gnomAD rs773146142, REVEL 0.12, CADD 24.70, Uncertain significance, Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- I36L (p.Ile36Leu), cosmic curated COSV60613, ExAC rs771936901, gnomAD rs771936901, REVEL 0.00, CADD 18.90
- L37F (p.Leu37Phe), NCI-TCGA Cosmic COSV6060, cosmic curated COSV60604, REVEL 0.11, CADD 23.60, Variant assessed as somatic; moderate impact.
- L37S (p.Leu37Ser), TOPMed rs2064877287
- P38L (p.Pro38Leu), cosmic curated COSV10525, gnomAD rs1238513303, REVEL 0.24, CADD 27.40
- P38S (p.Pro38Ser), TOPMed rs1450674131, REVEL 0.10, CADD 26.00
- P39L (p.Pro39Leu), ExAC rs779238932, TOPMed rs779238932, gnomAD rs779238932, REVEL 0.23, CADD 23.10, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- P39S (p.Pro39Ser), ExAC rs748404732
- R40Q (p.Arg40Gln), rs767877538, ClinGen CA066811, ClinVar RCV000415627, ClinVar RCV000659931, REVEL 0.17, CADD 25.20, Uncertain significance, not provided; Connective tissue disorder; Familial thoracic aortic aneurysm and
- R40W (p.Arg40Trp), rs749436978, ClinGen CA066794, cosmic curated COSV60616, ClinVar RCV003078972, REVEL 0.47, CADD 27.50, Uncertain significance, Aortic aneurysm, familial thoracic 7
- N41K (p.Asn41Lys), Ensembl rs886057866, Uncertain significance
- L42F (p.Leu42Phe), rs756715403, ClinGen CA066851, cosmic curated COSV10525, ClinVar RCV003736511, REVEL 0.29, CADD 26.30, Uncertain significance, not provided
- C43R (p.Cys43Arg), ExAC rs750867972, gnomAD rs750867972, REVEL 0.36, CADD 20.40
- I44F (p.Ile44Phe), gnomAD rs1382060732, REVEL 0.21, CADD 20.20
- I44N (p.Ile44Asn), gnomAD rs1287939071
- I44V (p.Ile44Val), gnomAD rs1382060732, REVEL 0.12, CADD 1.73, Uncertain significance, Aortic aneurysm, familial thoracic 7
- E46Q (p.Glu46Gln), ExAC rs781555652, gnomAD rs781555652, REVEL 0.14, CADD 23.90
- G47E (p.Gly47Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- A48D (p.Ala48Asp), Ensembl rs1060502537, Uncertain significance
- A48G (p.Ala48Gly), rs1060502537, ClinGen CA16611342, ClinVar RCV000465436, Ensembl rs1060502537, Uncertain significance, Aortic aneurysm, familial thoracic 7
- T49A (p.Thr49Ala), rs1276195216, ClinGen CA354236418, ClinVar RCV003313309, ClinVar RCV004167812, REVEL 0.13, CADD 23.30, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- T49I (p.Thr49Ile), rs1337572355, ClinGen CA354236411, ClinVar RCV001574893, ClinVar RCV003298934, REVEL 0.19, CADD 24.10, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection
- A50D (p.Ala50Asp), rs369576521, ClinGen CA354236398, ClinVar RCV003641710, Uncertain significance, Aortic aneurysm, familial thoracic 7
- A50T (p.Ala50Thr), rs751888783, NCI-TCGA Cosmic COSV6062, cosmic curated COSV60620, ExAC rs751888783, REVEL 0.19, CADD 26.80, Uncertain significance, Aortic aneurysm, familial thoracic 7
- A50V (p.Ala50Val), rs369576521, ClinGen CA067424, ClinVar RCV000489357, ClinVar RCV000769346, REVEL 0.22, CADD 25.30, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- K51E (p.Lys51Glu), rs759096954, ClinGen CA067438, ClinVar RCV001056926, ClinVar RCV004031795, REVEL 0.07, CADD 24.10, Uncertain significance, Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- K51R (p.Lys51Arg), ExAC rs753454689, gnomAD rs753454689, REVEL 0.06, CADD 22.50
- K51V (p.Lys51Val), gnomAD 3-123618634-CTT-C, CADD 23.30
- K51M (p.Lys51Met), rs1272266347, gnomAD 3-123618635-T-A, CADD 22.20
- F52I (p.Phe52Ile), NCI-TCGA Cosmic COSV6060, cosmic curated COSV60608, Variant assessed as somatic; moderate impact.
- E53K (p.Glu53Lys), rs376586087, ClinGen CA067497, cosmic curated COSV60614, ClinVar RCV001363882, REVEL 0.16, CADD 23.10, Uncertain significance, Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- E53Q (p.Glu53Gln), ESP rs376586087, ExAC rs376586087, TOPMed rs376586087, gnomAD rs376586087, REVEL 0.14, CADD 23.60, Uncertain significance
- G54A (p.Gly54Ala), ExAC rs767453947, TOPMed rs767453947, gnomAD rs767453947, Uncertain significance
- G54E (p.Gly54Glu), rs767453947, ClinGen CA067594, ClinVar RCV001577928, ClinVar RCV002313450, REVEL 0.32, CADD 23.80, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Megacysti
- G54R (p.Gly54Arg), Ensembl rs1560224879, REVEL 0.25, CADD 24.10, Uncertain significance, Aortic aneurysm, familial thoracic 7
- G54V (p.Gly54Val), ExAC rs767453947, TOPMed rs767453947, gnomAD rs767453947, Uncertain significance, not provided
- R55=, NCI-TCGA Cosmic COSV6061, Variant assessed as somatic; low impact.
- R55L (p.Arg55Leu), rs768984022, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, ExAC rs768984022, REVEL 0.28, CADD 26.10, Uncertain significance, Cardiovascular phenotype
- R55Q (p.Arg55Gln), rs768984022, ClinGen CA067644, ClinVar RCV002313416, ClinVar RCV002531834, REVEL 0.10, CADD 22.00, Uncertain significance, Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- R55W (p.Arg55Trp), rs374679897, ClinGen CA067639, cosmic curated COSV60606, ClinVar RCV001553396, REVEL 0.55, CADD 32.00, Uncertain significance, not provided; Aortic aneurysm, familial thoracic 7
- V56F (p.Val56Phe), ESP rs369537401, ExAC rs369537401, TOPMed rs369537401, gnomAD rs369537401, REVEL 0.65, CADD 33.00, Uncertain significance, Aortic aneurysm, familial thoracic 7
- R57G (p.Arg57Gly), rs776636237, ClinGen CA82953203, ClinVar RCV002979821, ClinVar RCV004065299, REVEL 0.38, CADD 27.60, Uncertain significance, Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- R57P (p.Arg57Pro), 1000Genomes rs150006791, ExAC rs150006791, TOPMed rs150006791, gnomAD rs150006791, Uncertain significance
- R57Q (p.Arg57Gln), rs150006791, ClinGen CA067781, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, REVEL 0.23, CADD 31.00, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- R57W (p.Arg57Trp), rs776636237, ClinGen CA067768, NCI-TCGA Cosmic COSV6061, cosmic curated COSV60614, REVEL 0.41, CADD 31.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- G58D (p.Gly58Asp), TOPMed rs1161966043, gnomAD rs1161966043, Uncertain significance
- G58R (p.Gly58Arg), TOPMed rs1213091943, gnomAD rs1213091943, REVEL 0.82, CADD 26.60
- G58V (p.Gly58Val), rs1161966043, ClinGen CA354245512, ClinVar RCV004522526, ClinVar RCV005100641, REVEL 0.83, CADD 25.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- P60A (p.Pro60Ala), rs2063229998, ClinGen CA354245468, ClinVar RCV001063205, Ensembl rs2063229998, REVEL 0.34, CADD 26.00, Uncertain significance, Aortic aneurysm, familial thoracic 7
- P60L (p.Pro60Leu), rs1060502532, ClinGen CA16611126, ClinVar RCV000457727, ClinVar RCV002411479, REVEL 0.36, CADD 29.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- E61D (p.Glu61Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E61* (p.Glu61Ter), gnomAD 3-123617782-C-A, CADD 8.39
- P62A (p.Pro62Ala), rs1376046700, ClinGen CA354245399, NCI-TCGA Cosmic COSV6061, cosmic curated COSV60617, REVEL 0.64, CADD 25.30, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- Q63* (p.Gln63Ter), Ensembl rs868049580
- Q63R (p.Gln63Arg), rs778259023, ClinGen CA068044, ClinVar RCV000276037, ClinVar RCV001590997, REVEL 0.12, CADD 24.70, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- V64M (p.Val64Met), ExAC rs758668206, gnomAD rs758668206, REVEL 0.64, CADD 25.40
- V64A (p.Val64Ala), rs764191812, gnomAD 3-123614383-A-G, CADD 6.06
- W66* (p.Trp66Ter), rs2474744149, ClinGen CA354245279, ClinVar RCV002730849, Uncertain significance
- N69S (p.Asn69Ser), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- N69N (p.Asn69Asn), rs2057590562, gnomAD 3-123617789-G-A, CADD 4.24
- G70E (p.Gly70Glu), rs2474744010, ClinGen CA354245114, ClinVar RCV002424177, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- G70R (p.Gly70Arg), rs779602599, ClinGen CA068367, ClinVar RCV000694950, ClinVar RCV001569306, REVEL 0.41, CADD 24.60, Uncertain significance, not specified; Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intes
- G70W (p.Gly70Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P72R (p.Pro72Arg), rs1048834570, ClinGen CA82953140, ClinVar RCV003525600, TOPMed rs1048834570, REVEL 0.14, CADD 20.20, Uncertain significance, Aortic aneurysm, familial thoracic 7
- P72A (p.Pro72Ala), rs60174052, gnomAD 3-123614381-G-C, CADD 8.71
- I73M (p.Ile73Met), ExAC rs767065648, gnomAD rs767065648, REVEL 0.31, CADD 21.90
- I73V (p.Ile73Val), TOPMed rs2063228451, REVEL 0.07, CADD 9.59
- T74I (p.Thr74Ile), TOPMed rs1158598449
- T74P (p.Thr74Pro), Ensembl rs1576848461
- S75G (p.Ser75Gly), ExAC rs757326668, gnomAD rs757326668, REVEL 0.07, CADD 8.82
- S75R (p.Ser75Arg), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, REVEL 0.14, CADD 0.01, Variant assessed as somatic; moderate impact.
- G76R (p.Gly76Arg), rs368413008, ClinGen CA068665, cosmic curated COSV60619, ClinVar RCV000548227, REVEL 0.26, CADD 23.00, Conflicting interpretations, not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- G77C (p.Gly77Cys), ESP rs139000120, ExAC rs139000120, TOPMed rs139000120, gnomAD rs139000120, REVEL 0.22, CADD 24.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- G77D (p.Gly77Asp), rs780448822, ClinGen CA82953125, ClinVar RCV003177732, ClinVar RCV006473873, REVEL 0.18, CADD 15.20, Uncertain significance, Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- G77R (p.Gly77Arg), rs139000120, ClinGen CA354244890, ClinVar RCV001963341, ESP rs139000120, Uncertain significance, Aortic aneurysm, familial thoracic 7
- G77S (p.Gly77Ser), rs139000120, ClinGen CA068687, ClinVar RCV000680577, ClinVar RCV000769345, REVEL 0.13, CADD 22.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided; Connectiv
- R78C (p.Arg78Cys), rs554364032, ClinGen CA068709, ClinVar RCV002448193, ClinVar RCV003886579, REVEL 0.41, CADD 28.00, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- R78G (p.Arg78Gly), rs554364032, ClinGen CA354244877, ClinVar RCV003076880, ClinVar RCV003349004, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- R78H (p.Arg78His), rs537615379, ClinGen CA068722, cosmic curated COSV10065, ClinVar RCV001948641, REVEL 0.13, CADD 19.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- R78L (p.Arg78Leu), 1000Genomes rs537615379, ExAC rs537615379, TOPMed rs537615379, gnomAD rs537615379, REVEL 0.25, CADD 25.10, Uncertain significance
- F79L (p.Phe79Leu), gnomAD rs1301337646, REVEL 0.21, CADD 23.70
- L80M (p.Leu80Met), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- L80S (p.Leu80Ser), rs754578647, gnomAD 3-123618632-A-G, CADD 3.92
- L81M (p.Leu81Met), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- L81V (p.Leu81Val), rs769809706, gnomAD 3-123614358-CAG-C, CADD 15.50
- L81R (p.Leu81Arg), gnomAD 3-123614359-A-C, CADD 19.40
- L81P (p.Leu81Pro), rs760123154, gnomAD 3-123614359-A-G, CADD 15.30
- D82G (p.Asp82Gly), rs145163155, ClinGen CA068857, ClinVar RCV002015816, ESP rs145163155, REVEL 0.27, CADD 25.10, Uncertain significance, Aortic aneurysm, familial thoracic 7
- D82V (p.Asp82Val), rs947049871, []
- C83F (p.Cys83Phe), rs2108881147, ClinGen CA354244734, ClinVar RCV001799911, Ensembl rs2108881147, Uncertain significance, not provided
- C83Y (p.Cys83Tyr), rs2108881147, ClinGen CA354244731, ClinVar RCV002026074, Ensembl rs2108881147, Uncertain significance, Aortic aneurysm, familial thoracic 7
- C83R (p.Cys83Arg), gnomAD 3-123614372-A-G, CADD 6.36
- C83* (p.Cys83Ter), gnomAD 3-123617792-G-T, CADD 7.93
- C83C (p.Cys83Cys), gnomAD 3-123617792-G-A, CADD 8.38
- G84A (p.Gly84Ala), ExAC rs761219750, gnomAD rs761219750, REVEL 0.09, CADD 15.50
- G84R (p.Gly84Arg), 1000Genomes rs568619953, ExAC rs568619953, TOPMed rs568619953, gnomAD rs568619953, REVEL 0.33, CADD 17.80, Uncertain significance
- G84S (p.Gly84Ser), rs568619953, ClinGen CA068919, cosmic curated COSV60604, ClinVar RCV001170680, REVEL 0.09, CADD 7.08, Conflicting interpretations, Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- G84G (p.Gly84Gly), gnomAD 3-123617771-C-T, CADD 8.37
- G84E (p.Gly84Glu), gnomAD 3-123617772-C-T, CADD 8.67
- G84W (p.Gly84Trp), gnomAD 3-123617773-C-A, CADD 6.47
- R86G (p.Arg86Gly), rs368822172, ClinGen CA354244665, ClinVar RCV001150742, ClinVar RCV004032786, REVEL 0.21, CADD 23.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- R86Q (p.Arg86Gln), rs138265409, ClinGen CA069022, cosmic curated COSV60616, ClinVar RCV000554596, REVEL 0.16, CADD 23.50, Conflicting interpretations, not specified; not provided; Aortic aneurysm, familial thoracic 7
- R86W (p.Arg86Trp), rs368822172, ClinGen CA069008, cosmic curated COSV10740, ClinVar RCV000311628, REVEL 0.32, CADD 25.80, Conflicting interpretations, not specified; not provided; Aortic aneurysm, familial thoracic 7
- G87A (p.Gly87Ala), 1000Genomes rs368325180, ESP rs368325180, ExAC rs368325180, TOPMed rs368325180, REVEL 0.35, CADD 23.70, Benign
- G87E (p.Gly87Glu), rs368325180, ClinGen CA069054, ClinVar RCV000757535, ClinVar RCV001078665, REVEL 0.24, CADD 24.10, Benign/Likely benign, Aortic aneurysm, familial thoracic 7; not provided; Familial thoracic aortic ane
- G87R (p.Gly87Arg), Ensembl rs1576848161, REVEL 0.44, CADD 24.70
- T88S (p.Thr88Ser), rs1285946380, ClinGen CA354244635, ClinVar RCV000809937, ClinVar RCV002495115, REVEL 0.08, CADD 8.96, Uncertain significance, Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- T88I (p.Thr88Ile), rs1443900126, gnomAD 3-123617769-G-A, CADD 13.40
- T88K (p.Thr88Lys), gnomAD 3-123617769-G-T, CADD 13.00
- F89S (p.Phe89Ser), ESP rs150468557, TOPMed rs150468557
- S90N (p.Ser90Asn), rs201064955, ClinGen CA82953023, ClinVar RCV002437380, ClinVar RCV006620702, REVEL 0.29, CADD 24.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- L91P (p.Leu91Pro), rs2474742548, ClinGen CA354244536, ClinVar RCV002437476, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V92L (p.Val92Leu), Ensembl rs777718159
- V92M (p.Val92Met), Ensembl rs777718159
- V92V (p.Val92Val), rs909707005, gnomAD 3-123614367-A-G, CADD 15.50
- V92I (p.Val92Ile), rs186240444, gnomAD 3-123614369-C-T, CADD 7.41
- I93V (p.Ile93Val), Ensembl rs1576848036, REVEL 0.41, CADD 19.50
- H94D (p.His94Asp), rs140765516, ClinGen CA069267, ClinVar RCV004522531, ESP rs140765516, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- H94P (p.His94Pro), TOPMed rs1425700163, Uncertain significance
- H94R (p.His94Arg), rs1425700163, ClinGen CA354244448, ClinVar RCV004522532, TOPMed rs1425700163, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A95D (p.Ala95Asp), cosmic curated COSV60607, gnomAD rs2063225109, REVEL 0.11, CADD 15.50
- V96L (p.Val96Leu), TOPMed rs1162837317, gnomAD rs1162837317, REVEL 0.28, CADD 24.60
- H97P (p.His97Pro), rs756800370, ClinGen CA354244381, ClinVar RCV002313433, ExAC rs756800370, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- H97Q (p.His97Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H97R (p.His97Arg), rs756800370, ClinGen CA069371, ClinVar RCV002439804, ClinVar RCV003102865, REVEL 0.01, CADD 0.77, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- H97Y (p.His97Tyr), rs111422191, NCI-TCGA Cosmic COSV6062, cosmic curated COSV60622, ExAC rs111422191, REVEL 0.04, CADD 1.57, Variant assessed as somatic; moderate impact.
- E98A (p.Glu98Ala), TOPMed rs2063224714
- E98E (p.Glu98Glu), gnomAD 3-123617774-T-C, CADD 8.46
- E99G (p.Glu99Gly), Ensembl rs113345148
- D100G (p.Asp100Gly), TOPMed rs2063224219, Uncertain significance, Aortic aneurysm, familial thoracic 7
- D100N (p.Asp100Asn), rs1060502535, ClinGen CA074992, ClinVar RCV000476921, ClinVar RCV002436436, REVEL 0.45, CADD 26.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- G102* (p.Gly102Ter), TOPMed rs1345796517, gnomAD rs1345796517, Uncertain significance
- G102E (p.Gly102Glu), ExAC rs758300915, TOPMed rs758300915, gnomAD rs758300915, REVEL 0.60, CADD 25.50, Uncertain significance
Public MYLK analysis runs
- MYLK analysis run — MYLK (2,639 variants) — completed 2026-08-19