VCL (Vinculin) variants and mutations
VCL (also known as Vinculin) is a human protein-coding gene encoding a vinculin protein. It links integrins and cadherins to the actin cytoskeleton at focal adhesions and adherens junctions, transmitting mechanical force between cells and matrix. Pathogenic variants can cause dilated or hypertrophic cardiomyopathy and, in some cases, skeletal myopathy. This analysis covers 1,415 VCL variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes dilated cardiomyopathy 1W, hypertrophic cardiomyopathy 15, and hypertrophic cardiomyopathy. Example VCL variants include P2A, P2L, and P2P.
Variant analysis overview
- Gene: VCL
- Protein: Vinculin
- UniProt accession: P18206
- Organism: Homo sapiens
- Variants analyzed: 1415
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 1,192 unspecified-consequence records; 112 missense variants; 93 synonymous variants; 9 frameshift variants; 3 stop-gained variants; 4 splice-region variants; 2 in-frame deletions
- Prediction scores: 1,099 variants have prediction scores (78% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: dilated cardiomyopathy 1W, hypertrophic cardiomyopathy 15, hypertrophic cardiomyopathy, familial isolated dilated cardiomyopathy, cancer, Noonan syndrome, Costello syndrome, dilated cardiomyopathy, Rare familial disorder with hypertrophic cardiomyopathy, cardiofaciocutaneous syndrome, hearing loss disorder, coronary artery disorder.
Protein structure and variant hotspots
- Protein features: 21 post-translational modification sites.
- 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable VCL variants
Examples include P2A, P2L, P2P, V3A, F4L, H5P, H5H, T6K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P2A (p.Pro2Ala), rs929741279, ClinGen CA209683515, ClinVar RCV002910231, ClinVar RCV003128956, REVEL 0.52, CADD 25.30, Uncertain significance, not provided; Dilated cardiomyopathy 1W
- P2L (p.Pro2Leu), gnomAD 10-73998212-C-T, REVEL 0.58, CADD 28.50
- P2P (p.Pro2Pro), rs753870747, gnomAD 10-73998213-A-C, CADD 14.30
- V3A (p.Val3Ala), rs1285375542, ClinGen CA377254505, ClinVar RCV003995138, ClinVar RCV005301425, REVEL 0.31, CADD 27.90, Uncertain significance, not specified; Cardiovascular phenotype
- F4L (p.Phe4Leu), gnomAD 10-73998219-T-G, REVEL 0.31, CADD 26.70
- H5P (p.His5Pro), rs2136218216, ClinGen CA377254547, ClinVar RCV001361873, Ensembl rs2136218216, REVEL 0.69, CADD 29.90, Uncertain significance, Dilated cardiomyopathy 1W
- H5H (p.His5His), gnomAD 10-73998222-T-C, CADD 13.40
- T6K (p.Thr6Lys), gnomAD 10-73998224-C-A, REVEL 0.64, CADD 28.80
- R7C (p.Arg7Cys), Ensembl rs1840152275, REVEL 0.20, CADD 32.00
- R7H (p.Arg7His), rs764871020, ClinGen CA377254595, ClinVar RCV001881300, ClinVar RCV002422952, REVEL 0.11, CADD 26.60, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W
- R7L (p.Arg7Leu), rs764871020, ClinGen CA5562694, ClinVar RCV000794108, ClinVar RCV002501044, REVEL 0.17, CADD 25.90, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 15; Dilated cardiomyopathy
- R7R (p.Arg7Arg), gnomAD 10-73998228-C-T, CADD 16.10
- T8K (p.Thr8Lys), gnomAD rs1183306992, REVEL 0.57, CADD 27.50
- T8R (p.Thr8Arg), gnomAD 10-73998230-C-G, REVEL 0.57, CADD 27.20
- T8M (p.Thr8Met), gnomAD 10-73998230-C-T, REVEL 0.55, CADD 27.90
- T8T (p.Thr8Thr), rs1411168963, gnomAD 10-73998231-G-A, CADD 15.30
- I9F (p.Ile9Phe), gnomAD 10-73998232-A-T, REVEL 0.54, CADD 28.40
- E10K (p.Glu10Lys), gnomAD 10-73998235-G-A, REVEL 0.65, CADD 32.00
- E10Q (p.Glu10Gln), gnomAD 10-73998235-G-C, REVEL 0.61, CADD 31.00
- E10D (p.Glu10Asp), gnomAD 10-73998237-G-T, REVEL 0.40, CADD 27.60
- E10E (p.Glu10Glu), rs146750460, gnomAD 10-73998237-G-A, CADD 14.80
- S11G (p.Ser11Gly), rs397517240, ClinGen CA136773, ClinVar RCV000038824, gnomAD rs397517240, REVEL 0.31, CADD 28.80, Uncertain significance, not specified
- S11N (p.Ser11Asn), rs777811020, ClinGen CA5562696, ClinVar RCV000645313, ClinVar RCV000786269, REVEL 0.24, CADD 27.20, Uncertain significance, not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1W
- S11S (p.Ser11Ser), rs749266193, gnomAD 10-73998240-C-T, CADD 15.50
- I12V (p.Ile12Val), ExAC rs770570643, gnomAD rs770570643, REVEL 0.23, CADD 26.60
- I12I (p.Ile12Ile), rs774195260, gnomAD 10-73998243-C-T, CADD 13.80
- L13V (p.Leu13Val), gnomAD 10-73998244-C-G, REVEL 0.35, CADD 24.10
- L13M (p.Leu13Met), gnomAD 10-73998244-C-A, REVEL 0.38, CADD 24.40
- L13R (p.Leu13Arg), gnomAD 10-73998245-T-G, REVEL 0.68, CADD 32.00
- L13L (p.Leu13Leu), rs759312175, gnomAD 10-73998246-G-T, CADD 14.30
- E14E (p.Glu14Glu), rs1840152991, gnomAD 10-73998249-G-A, CADD 14.80
- P15L (p.Pro15Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P15P (p.Pro15Pro), rs775062250, gnomAD 10-73998252-G-A, CADD 13.80
- V16L (p.Val16Leu), gnomAD 10-73998253-G-C, REVEL 0.32, CADD 29.70
- A17E (p.Ala17Glu), rs794729189, ClinGen CA335610, ClinVar RCV000183987, Ensembl rs794729189, AlphaMissense 1.00, MetaLR 0.27, Uncertain significance, not provided
- A17T (p.Ala17Thr), gnomAD rs1378693067
- Q18R (p.Gln18Arg), rs1840153312, ClinGen CA377254842, ClinVar RCV001310049, TOPMed rs1840153312, AlphaMissense 0.59, MetaLR 0.24, Uncertain significance, Dilated cardiomyopathy 1W
- Q18Q (p.Gln18Gln), gnomAD 10-73998261-G-A, CADD 14.20
- Q19H (p.Gln19His), Ensembl rs1840153372
- I20I (p.Ile20Ile), gnomAD 10-73998267-C-A, CADD 14.30
- H22Q (p.His22Gln), gnomAD rs1297753845, REVEL 0.26, CADD 22.30
- H22Y (p.His22Tyr), TOPMed rs1215274479, gnomAD rs1215274479, REVEL 0.31, CADD 26.60
- H22N (p.His22Asn), gnomAD 10-73998271-C-A, REVEL 0.24, CADD 26.20
- L23M (p.Leu23Met), ExAC rs776882033, TOPMed rs776882033, gnomAD rs776882033, Uncertain significance, Cardiovascular phenotype
- L23L (p.Leu23Leu), gnomAD 10-73998276-G-A, CADD 15.00
- V24M (p.Val24Met), gnomAD rs1198500252, REVEL 0.47, CADD 31.00
- M26I (p.Met26Ile), gnomAD rs1255155707, REVEL 0.31, CADD 24.40
- M26R (p.Met26Arg), rs2549180788, ClinGen CA377255049, ClinVar RCV003625008, Uncertain significance, Dilated cardiomyopathy 1W
- H27D (p.His27Asp), rs1486411009, ClinGen CA377255068, ClinVar RCV002306169, ClinVar RCV002416570, AlphaMissense 0.97, MetaLR 0.26, Uncertain significance, Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1W
- H27N (p.His27Asn), TOPMed rs1486411009, gnomAD rs1486411009
- H27Y (p.His27Tyr), TOPMed rs1486411009, gnomAD rs1486411009, REVEL 0.36, AlphaMissense 0.97
- H27H (p.His27His), rs200733607, gnomAD 10-73998288-C-T, CADD 13.70
- E28G (p.Glu28Gly), rs750937217, gnomAD 10-73998288-C-CG, CADD 33.00
- E28* (p.Glu28Ter), gnomAD 10-73998289-G-T, CADD 38.00
- E29E (p.Glu29Glu), rs2136218290, gnomAD 10-73998294-G-A, CADD 13.10
- G30A (p.Gly30Ala), gnomAD 10-73998296-G-C, REVEL 0.30, CADD 23.10
- G30D (p.Gly30Asp), gnomAD 10-73998296-G-A, REVEL 0.39, CADD 31.00
- G30G (p.Gly30Gly), gnomAD 10-73998297-C-A, CADD 14.50
- E31* (p.Glu31Ter), NCI-TCGA Cosmic COSV9928, cosmic curated COSV99280, Variant assessed as somatic; high impact.
- E31K (p.Glu31Lys), gnomAD 10-73998298-G-A, REVEL 0.28, CADD 32.00
- V32L (p.Val32Leu), gnomAD 10-73998301-G-C, REVEL 0.30, CADD 28.50
- V32V (p.Val32Val), gnomAD 10-73998303-G-C, CADD 14.40
- D33G (p.Asp33Gly), rs1840154118, ClinGen CA377255204, ClinVar RCV001237310, Ensembl rs1840154118, REVEL 0.39, CADD 32.00, Uncertain significance, Dilated cardiomyopathy 1W
- D33Y (p.Asp33Tyr), gnomAD 10-73998304-G-T, REVEL 0.54, CADD 32.00
- D33N (p.Asp33Asn), gnomAD 10-73998304-G-A, REVEL 0.27, CADD 31.00
- D33D (p.Asp33Asp), rs568175141, gnomAD 10-73998306-C-T, CADD 14.90
- G34S (p.Gly34Ser), gnomAD rs1208436782, REVEL 0.36, CADD 31.00
- G34C (p.Gly34Cys), gnomAD 10-73998307-G-T, REVEL 0.56, CADD 32.00
- K35E (p.Lys35Glu), rs139329923, ClinGen CA209683575, ClinVar RCV002042394, ClinVar RCV005772324, REVEL 0.36, CADD 25.80, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W
- K35R (p.Lys35Arg), gnomAD 10-73998311-A-G, REVEL 0.20, CADD 25.10
- A36T (p.Ala36Thr), Ensembl rs1840154313, REVEL 0.26, CADD 29.80
- A36V (p.Ala36Val), rs2136218305, ClinGen CA377255244, ClinVar RCV002048005, Ensembl rs2136218305, AlphaMissense 0.85, MetaLR 0.22, Uncertain significance, Dilated cardiomyopathy 1W
- A36D (p.Ala36Asp), gnomAD 10-73998314-C-A, REVEL 0.40, CADD 28.40
- A36A (p.Ala36Ala), gnomAD 10-73998315-C-T, CADD 15.80
- P38L (p.Pro38Leu), rs1060502194, ClinGen CA16612941, ClinVar RCV000462199, Ensembl rs1060502194, REVEL 0.47, CADD 29.70, Uncertain significance, Dilated cardiomyopathy 1W
- P38T (p.Pro38Thr), gnomAD 10-73998319-C-A, REVEL 0.39, CADD 25.80
- P38H (p.Pro38His), gnomAD 10-73998320-C-A, REVEL 0.51, CADD 28.70
- D39E (p.Asp39Glu), gnomAD 10-73998322-G-GA, CADD 33.00
- D39Y (p.Asp39Tyr), gnomAD 10-73998322-G-T, REVEL 0.50, CADD 32.00
- D39D (p.Asp39Asp), gnomAD 10-73998324-C-T, CADD 15.40
- L40I (p.Leu40Ile), NCI-TCGA TCGA novel, REVEL 0.21, CADD 27.20, Variant assessed as somatic; moderate impact.
- L40V (p.Leu40Val), rs1840154450, ClinGen CA377255283, ClinVar RCV002306223, ClinVar RCV002337440, REVEL 0.19, CADD 26.90, Uncertain significance, Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1W
- L40H (p.Leu40His), gnomAD 10-73998326-T-A, REVEL 0.61, CADD 32.00
- L40L (p.Leu40Leu), rs144080529, gnomAD 10-73998327-C-T, CADD 15.20
- T41A (p.Thr41Ala), Ensembl rs866262635, REVEL 0.16, CADD 22.90
- T41I (p.Thr41Ile), rs1425074543, ClinGen CA377255307, ClinVar RCV002377940, ClinVar RCV003120951, AlphaMissense 0.28, MetaLR 0.21, Uncertain significance, not provided; Cardiovascular phenotype
- T41P (p.Thr41Pro), gnomAD 10-73998328-A-C, REVEL 0.32, CADD 25.20
- T41N (p.Thr41Asn), gnomAD 10-73998329-C-A, REVEL 0.14, CADD 23.50
- T41S (p.Thr41Ser), gnomAD 10-73998329-C-G, REVEL 0.09, CADD 21.60
- T41T (p.Thr41Thr), gnomAD 10-73998330-C-A, CADD 13.10
- A42T (p.Ala42Thr), rs2549180848, ClinGen CA377255314, ClinVar RCV003022919, Uncertain significance, Dilated cardiomyopathy 1W
- A42E (p.Ala42Glu), gnomAD 10-73998332-C-A, REVEL 0.13, CADD 22.70
- A42A (p.Ala42Ala), rs1031820588, gnomAD 10-73998333-G-T, CADD 15.30
- P43H (p.Pro43His), gnomAD 10-73998335-C-A, REVEL 0.39, CADD 28.30
- P43P (p.Pro43Pro), gnomAD 10-73998336-C-G, CADD 13.90
- V44M (p.Val44Met), 1000Genomes rs554116863, ExAC rs554116863, TOPMed rs554116863, gnomAD rs554116863, REVEL 0.44, CADD 31.00, Uncertain significance, Dilated cardiomyopathy 1W
- V44V (p.Val44Val), gnomAD 10-73998339-G-T, CADD 14.40
- A45D (p.Ala45Asp), Ensembl rs1039626542
- A45P (p.Ala45Pro), rs1840154859, ClinGen CA377255370, ClinVar RCV002465036, AlphaMissense 0.09, MetaLR 0.11, Uncertain significance, Dilated cardiomyopathy 1W
- A45T (p.Ala45Thr), rs1840154859, ClinGen CA377255364, ClinVar RCV002387677, ClinVar RCV003094996, REVEL 0.12, AlphaMissense 0.09, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W
- A45G (p.Ala45Gly), gnomAD 10-73998339-GGCCG, CADD 32.00
- A45V (p.Ala45Val), gnomAD 10-73998341-C-T, REVEL 0.15, CADD 23.30
- A45A (p.Ala45Ala), rs1840154950, gnomAD 10-73998342-C-T, CADD 15.90
- A46S (p.Ala46Ser), rs992545879, ClinGen CA377255384, ClinVar RCV002383676, TOPMed rs992545879, AlphaMissense 0.19, MetaLR 0.23, Uncertain significance, Cardiovascular phenotype
- A46T (p.Ala46Thr), rs992545879, ClinGen CA209683608, ClinVar RCV003624615, ClinVar RCV004676241, REVEL 0.21, AlphaMissense 0.19, Uncertain significance, Dilated cardiomyopathy 1W; Cardiovascular phenotype
- A46V (p.Ala46Val), gnomAD rs1331916046, REVEL 0.29, CADD 23.30, Uncertain significance, Dilated cardiomyopathy 1W
- A46A (p.Ala46Ala), rs1358826630, gnomAD 10-73998345-C-T, CADD 12.90
- V47G (p.Val47Gly), rs2136218338, ClinGen CA377255406, ClinVar RCV001799342, ClinVar RCV004596487, AlphaMissense 0.97, MetaLR 0.39, Uncertain significance, Cardiomyopathy
- V47M (p.Val47Met), gnomAD 10-73998346-G-A, REVEL 0.56, CADD 32.00
- V47A (p.Val47Ala), gnomAD 10-73998347-T-C, REVEL 0.39, CADD 28.00
- V47V (p.Val47Val), gnomAD 10-73998348-G-T, CADD 13.80
- Q48* (p.Gln48Ter), rs1431682297, ClinGen CA377255415, ClinVar RCV002392026, ClinVar RCV005058618, CADD 37.00, Uncertain significance
- Q48E (p.Gln48Glu), rs1431682297, ClinGen CA377255411, NCI-TCGA Cosmic COSV9928, cosmic curated COSV99280, REVEL 0.20, CADD 22.80, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W
- A49G (p.Ala49Gly), rs1290715724, ClinGen CA377255440, ClinVar RCV002396897, AlphaMissense 0.29, MetaLR 0.20, Uncertain significance, Cardiovascular phenotype
- A49T (p.Ala49Thr), rs2549180866, ClinGen CA377255433, ClinVar RCV002396701, Uncertain significance, Cardiovascular phenotype
- A49V (p.Ala49Val), gnomAD rs1290715724, REVEL 0.24, AlphaMissense 0.29
- A49E (p.Ala49Glu), gnomAD 10-73998353-C-A, REVEL 0.28, CADD 25.40
- A49A (p.Ala49Ala), rs1840155276, gnomAD 10-73998354-G-A, CADD 16.20
- A50G (p.Ala50Gly), gnomAD rs1338611617, REVEL 0.53, CADD 31.00
- A50T (p.Ala50Thr), Ensembl rs1840155325, REVEL 0.56, CADD 32.00
- A50S (p.Ala50Ser), gnomAD 10-73998355-G-T, REVEL 0.51, CADD 31.00
- A50D (p.Ala50Asp), gnomAD 10-73998356-C-A, REVEL 0.71, CADD 30.00
- A50V (p.Ala50Val), gnomAD 10-73998356-C-T, REVEL 0.61, CADD 31.00
- A50A (p.Ala50Ala), rs1219643385, gnomAD 10-73998357-C-T, CADD 12.80
- V51F (p.Val51Phe), rs1565628951, ClinGen CA377255463, ClinVar RCV000780786, ClinVar RCV001869155, AlphaMissense 0.40, MetaLR 0.31, Uncertain significance, not specified; Dilated cardiomyopathy 1W
- V51I (p.Val51Ile), TOPMed rs1565628951, REVEL 0.22, AlphaMissense 0.40, Uncertain significance
- V51V (p.Val51Val), gnomAD 10-73998360-C-T, CADD 15.30
- S52N (p.Ser52Asn), rs886047216, ClinGen CA377255484, ClinVar RCV004267396, AlphaMissense 0.11, MetaLR 0.13, Uncertain significance, Cardiovascular phenotype
- S52T (p.Ser52Thr), rs886047216, ClinGen CA10629031, ClinVar RCV000405243, ClinVar RCV004021482, REVEL 0.25, AlphaMissense 0.11, Uncertain significance, Dilated cardiomyopathy 1W; Cardiovascular phenotype
- S52R (p.Ser52Arg), gnomAD 10-73998363-C-G, REVEL 0.28, CADD 24.90
- N53S (p.Asn53Ser), rs751938777, ClinGen CA5562707, ClinVar RCV000477949, ClinVar RCV001236153, REVEL 0.35, CADD 28.50, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W
- L54F (p.Leu54Phe), rs2549180873, ClinGen CA377255516, ClinVar RCV003513197, Uncertain significance, Dilated cardiomyopathy 1W
- L54L (p.Leu54Leu), gnomAD 10-73998369-C-T, CADD 13.80
- V55F (p.Val55Phe), rs755441334, ClinGen CA5562708, ClinVar RCV000218318, ClinVar RCV000622645, REVEL 0.61, AlphaMissense 0.94, Uncertain significance, Primary familial dilated cardiomyopathy; Cardiomyopathy; Dilated cardiomyopathy
- V55L (p.Val55Leu), rs755441334, ClinGen CA377255535, ClinVar RCV001306785, ExAC rs755441334, AlphaMissense 0.94, MetaLR 0.31, Uncertain significance, Dilated cardiomyopathy 1W
- V55I (p.Val55Ile), gnomAD 10-73998370-G-A, REVEL 0.21, CADD 23.70
- R56Q (p.Arg56Gln), rs1840155750, ClinGen CA377255552, ClinVar RCV002643934, Ensembl rs1840155750, REVEL 0.21, CADD 26.50, Uncertain significance, Dilated cardiomyopathy 1W
- R56W (p.Arg56Trp), rs1555112641, ClinGen CA377255550, ClinVar RCV000553908, Ensembl rs1555112641, REVEL 0.33, CADD 33.00, Uncertain significance, Dilated cardiomyopathy 1W
- R56R (p.Arg56Arg), gnomAD 10-73998375-G-T, CADD 25.90
- G58A (p.Gly58Ala), rs1841125642, ClinGen CA377259918, ClinVar RCV003368166, TOPMed rs1841125642, REVEL 0.28, AlphaMissense 0.95, Uncertain significance, Cardiovascular phenotype
- G58E (p.Gly58Glu), rs1841125642, NCI-TCGA Cosmic COSV9928, cosmic curated COSV99281, ClinGen CA377259913, AlphaMissense 0.95, MetaLR 0.34, Uncertain significance, Dilated cardiomyopathy 1W
- G58G (p.Gly58Gly), gnomAD 10-74043088-A-G, CADD 13.10
- E60E (p.Glu60Glu), rs938335177, gnomAD 10-74043094-G-A, CADD 10.90
- T61T (p.Thr61Thr), rs776787274, gnomAD 10-74043097-T-G, CADD 12.00
- V62A (p.Val62Ala), rs769799445, ClinGen CA5562723, ClinVar RCV000460522, ClinVar RCV000614341, REVEL 0.13, CADD 23.20, Uncertain significance, Cardiovascular phenotype; not provided; not specified
- V62F (p.Val62Phe), rs147809878, ClinGen CA377259992, ClinVar RCV004281336, AlphaMissense 0.80, MetaLR 0.14, Uncertain significance, Cardiovascular phenotype
- V62I (p.Val62Ile), rs147809878, ClinGen CA5562722, ClinVar RCV001901653, ClinVar RCV002407042, REVEL 0.12, AlphaMissense 0.80, Uncertain significance, Dilated cardiomyopathy 1W; Cardiovascular phenotype
- V62L (p.Val62Leu), rs147809878, ClinGen CA377259988, ClinVar RCV001232022, 1000Genomes rs147809878, AlphaMissense 0.80, MetaLR 0.14, Uncertain significance, Dilated cardiomyopathy 1W
- V62V (p.Val62Val), rs773335930, gnomAD 10-74043100-T-C, CADD 12.20
- Q63E (p.Gln63Glu), gnomAD 10-74043101-C-G, REVEL 0.13, CADD 21.50
- T64N (p.Thr64Asn), gnomAD 10-74043105-C-A, REVEL 0.13, CADD 24.50
- E66G (p.Glu66Gly), ExAC rs762999933, TOPMed rs762999933, gnomAD rs762999933
- D67E (p.Asp67Glu), rs1841126519, ClinGen CA377260106, ClinVar RCV001302145, gnomAD rs1841126519, AlphaMissense 0.98, MetaLR 0.25, Uncertain significance, Dilated cardiomyopathy 1W
- D67G (p.Asp67Gly), gnomAD rs1215296365, REVEL 0.59, CADD 32.00
- D67H (p.Asp67His), gnomAD rs1351010251, REVEL 0.58, CADD 28.40
- Q68* (p.Gln68Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Q68K (p.Gln68Lys), gnomAD 10-74043116-C-A, REVEL 0.20, CADD 21.70
- Q68R (p.Gln68Arg), gnomAD 10-74043117-A-G, REVEL 0.18, CADD 23.60
- Q68H (p.Gln68His), gnomAD 10-74043118-G-T, REVEL 0.07, CADD 22.90
- I69T (p.Ile69Thr), gnomAD 10-74043120-T-C, REVEL 0.31, CADD 23.90
- L70M (p.Leu70Met), rs2549198959, ClinGen CA377260152, ClinVar RCV003008489, Uncertain significance, Dilated cardiomyopathy 1W
- K71K (p.Lys71Lys), gnomAD 10-74043127-G-A, CADD 13.60
- D73E (p.Asp73Glu), ExAC rs766886119, gnomAD rs766886119
- D73N (p.Asp73Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D73Y (p.Asp73Tyr), gnomAD 10-74043131-G-T, REVEL 0.61, CADD 29.20
- M74V (p.Met74Val), rs1196607553, ClinGen CA377260211, ClinVar RCV000498510, TOPMed rs1196607553, REVEL 0.38, CADD 25.60, Likely benign, Hypertrophic cardiomyopathy
- P75L (p.Pro75Leu), rs373830664, ClinGen CA335607, ClinVar RCV000183986, ClinVar RCV000815842, REVEL 0.24, CADD 27.10, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W; not provided
- P75P (p.Pro75Pro), rs759937112, gnomAD 10-74043139-A-G, CADD 13.10
- P76L (p.Pro76Leu), rs2549198969, ClinGen CA377260249, ClinVar RCV002446058, Uncertain significance, Cardiovascular phenotype
- P76P (p.Pro76Pro), rs1273519420, gnomAD 10-74043142-A-T, CADD 12.10
- A77T (p.Ala77Thr), gnomAD 10-74043143-G-A, REVEL 0.39, CADD 24.80
- A77P (p.Ala77Pro), gnomAD 10-74043143-G-C, REVEL 0.47, CADD 29.20
- I79T (p.Ile79Thr), rs2549198976, ClinGen CA377260286, ClinVar RCV002296686, ClinVar RCV004990773, REVEL 0.17, CADD 22.10, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W
- I79L (p.Ile79Leu), gnomAD 10-74043149-A-C, REVEL 0.19, CADD 22.60
- K80Q (p.Lys80Gln), rs775532257, ClinGen CA5562728, ClinVar RCV000588537, ClinVar RCV002456291, REVEL 0.14, CADD 26.30, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy
- K80K (p.Lys80Lys), rs1841649559, gnomAD 10-74070670-G-A, CADD 15.60
- E82G (p.Glu82Gly), rs1841649623, ClinGen CA377265655, ClinVar RCV001046344, Ensembl rs1841649623, AlphaMissense 0.47, MetaLR 0.32, Uncertain significance, Dilated cardiomyopathy 1W
- E82A (p.Glu82Ala), gnomAD 10-74070675-A-C, REVEL 0.66, CADD 28.30
- N83I (p.Asn83Ile), rs1554816646, ClinGen CA377265669, ClinVar RCV000522035, Ensembl rs1554816646, AlphaMissense 0.27, MetaLR 0.24, Uncertain significance, not provided
- N83D (p.Asn83Asp), gnomAD 10-74070677-A-G, REVEL 0.24, CADD 24.90
Public VCL analysis runs
- VCL analysis run — VCL (1,415 variants) — completed 2026-08-20