COL5A1 (Collagen alpha-1(V) chain) variants and mutations
COL5A1 (also known as Collagen alpha-1(V) chain) is a human protein-coding gene encoding a collagen alpha-1(V) chain protein. It helps nucleate and regulate type I collagen fibril assembly, controlling fibril diameter and connective-tissue architecture. Haploinsufficiency or structural variants are a major cause of classical Ehlers-Danlos syndrome, with skin hyperextensibility, atrophic scarring, and joint hypermobility. This analysis covers 2,788 COL5A1 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, classic type, and fibromuscular dysplasia, multifocal. Example COL5A1 variants include M1I, M1R, and M1V.
Variant analysis overview
- Gene: COL5A1
- Protein: Collagen alpha-1(V) chain
- UniProt accession: P20908
- Organism: Homo sapiens
- Variants analyzed: 2788
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 2,568 unspecified-consequence records; 122 missense variants; 61 synonymous variants; 25 frameshift variants; 4 stop-gained variants; 6 in-frame deletions; 1 in-frame insertions; 1 splice-region variants
- Prediction scores: 1,907 variants have prediction scores (68% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, classic type, fibromuscular dysplasia, multifocal, Ehlers-Danlos syndrome type 1, Ehlers-Danlos syndrome, Dupuytren Contracture, familial thoracic aortic aneurysm and aortic dissection, Rare disease with thoracic aortic aneurysm and aortic dissection, Skin ulcer, keratoconus, Ehlers-Danlos syndrome, classic type, 2, eye disorder.
Protein structure and variant hotspots
- Protein features: 2 domains; 5 binding sites; 73 post-translational modification sites.
- Structural context: 622 variants have structural context.
- PTM context: 110 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, MaveDB, LitVar.
Notable COL5A1 variants
Examples include M1I, M1R, M1V, D2E, D2N, D2Y, D2G, D2D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2491093552, ClinGen CA375443759, ClinVar RCV003593689, Pathogenic, Ehlers-Danlos syndrome, classic type, 1
- M1R (p.Met1Arg), rs2491093547, ClinGen CA375443756, ClinVar RCV002829454, Pathogenic, Ehlers-Danlos syndrome, classic type, 1
- M1V (p.Met1Val), rs2132454722, ClinGen CA375443752, ClinVar RCV001895245, MetaLR 0.57, MetaSVM -0.35, Pathogenic, Ehlers-Danlos syndrome, classic type, 1
- D2E (p.Asp2Glu), rs1064796482, ClinGen CA16618784, ClinVar RCV000479742, TOPMed rs1064796482, REVEL 0.25, CADD 17.90, Uncertain significance, not provided
- D2N (p.Asp2Asn), gnomAD 9-134642191-G-A, REVEL 0.24, MetaLR 0.58
- D2Y (p.Asp2Tyr), gnomAD 9-134642191-G-T, REVEL 0.43, MetaLR 0.62
- D2G (p.Asp2Gly), gnomAD 9-134642192-A-G, REVEL 0.39, MetaLR 0.59
- D2D (p.Asp2Asp), rs1064796482, gnomAD 9-134642193-C-T, CADD 13.80
- V3F (p.Val3Phe), rs1383699147, ClinGen CA375443769, ClinVar RCV001974238, ClinVar RCV003146442, REVEL 0.23, CADD 18.40, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; not provided
- V3I (p.Val3Ile), TOPMed rs1383699147, gnomAD rs1383699147, REVEL 0.19, CADD 17.30, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- V3A (p.Val3Ala), gnomAD 9-134642195-T-C, REVEL 0.23, MetaLR 0.45
- V3V (p.Val3Val), gnomAD 9-134642196-C-T, CADD 13.90
- H4Q (p.His4Gln), rs368818087, ClinGen CA375443779, ClinVar RCV001355969, 1000Genomes rs368818087, REVEL 0.35, CADD 21.00, Uncertain significance, not provided
- H4R (p.His4Arg), TOPMed rs946946970, gnomAD rs946946970, REVEL 0.41, CADD 21.90
- H4I (p.His4Ile), gnomAD 9-134642195-TC-T, CADD 24.30
- H4Y (p.His4Tyr), gnomAD 9-134642197-C-T, REVEL 0.34, MetaLR 0.63
- H4N (p.His4Asn), gnomAD 9-134642197-C-A, REVEL 0.27, MetaLR 0.60
- H4L (p.His4Leu), gnomAD 9-134642198-A-T, REVEL 0.46, MetaLR 0.63
- H4P (p.His4Pro), gnomAD 9-134642198-A-C, REVEL 0.41, MetaLR 0.61
- H4H (p.His4His), rs368818087, gnomAD 9-134642199-T-C, CADD 14.50
- T5I (p.Thr5Ile), Ensembl rs587780906, REVEL 0.36, CADD 22.50
- T5A (p.Thr5Ala), gnomAD 9-134642200-A-G, REVEL 0.28, MetaLR 0.53
- T5N (p.Thr5Asn), gnomAD 9-134642201-C-A, REVEL 0.24, MetaLR 0.58
- T5T (p.Thr5Thr), rs1831312551, gnomAD 9-134642202-C-A, CADD 14.20
- R6C (p.Arg6Cys), rs1460929040, ClinGen CA375443787, ClinVar RCV002907736, REVEL 0.65, CADD 29.70, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- R6G (p.Arg6Gly), rs1460929040, ClinGen CA375443786, ClinVar RCV002240158, TOPMed rs1460929040, REVEL 0.49, CADD 23.30, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- R6H (p.Arg6His), TOPMed rs1166669897, gnomAD rs1166669897, REVEL 0.52, CADD 25.30, Uncertain significance
- R6L (p.Arg6Leu), rs1166669897, ClinGen CA375443790, ClinVar RCV002407890, ClinVar RCV005097771, REVEL 0.55, CADD 25.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- R6A (p.Arg6Ala), gnomAD 9-134642200-AC-A, CADD 27.80
- R6S (p.Arg6Ser), gnomAD 9-134642203-C-A, REVEL 0.52, MetaLR 0.71
- R6P (p.Arg6Pro), gnomAD 9-134642204-G-C, REVEL 0.57, CADD 28.70
- R6R (p.Arg6Arg), gnomAD 9-134642205-C-A, CADD 15.50
- W7R (p.Trp7Arg), rs1317496381, ClinGen CA375443793, ClinVar RCV003380209, TOPMed rs1317496381, REVEL 0.57, CADD 25.80, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- W7* (p.Trp7Ter), gnomAD 9-134642207-G-A, CADD 41.00
- W7S (p.Trp7Ser), gnomAD 9-134642207-G-C, REVEL 0.61, CADD 24.20
- W7L (p.Trp7Leu), gnomAD 9-134642207-G-T, REVEL 0.51, CADD 25.40
- W7C (p.Trp7Cys), gnomAD 9-134642208-G-T, REVEL 0.59, CADD 29.80
- K8E (p.Lys8Glu), gnomAD 9-134642206-T-TG, CADD 31.00
- K8* (p.Lys8Ter), gnomAD 9-134642209-A-T, CADD 41.00
- K8R (p.Lys8Arg), gnomAD 9-134642210-A-G, REVEL 0.28, CADD 24.20
- K8K (p.Lys8Lys), gnomAD 9-134642211-A-G, CADD 15.90
- A9E (p.Ala9Glu), rs900216804, ClinGen CA201068565, ClinVar RCV001258198, ClinVar RCV003442797, REVEL 0.34, CADD 18.40, Conflicting interpretations, not provided; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic
- A9V (p.Ala9Val), TOPMed rs900216804, gnomAD rs900216804, REVEL 0.28, CADD 19.70, Uncertain significance
- A9S (p.Ala9Ser), gnomAD 9-134642212-G-T, REVEL 0.19, CADD 21.10
- A9T (p.Ala9Thr), gnomAD 9-134642212-G-A, REVEL 0.22, CADD 19.40
- A9G (p.Ala9Gly), gnomAD 9-134642213-C-G, REVEL 0.33, CADD 19.70
- A9A (p.Ala9Ala), rs1831313105, gnomAD 9-134642214-G-C, CADD 14.60
- R10C (p.Arg10Cys), rs1457110544, ClinGen CA375443814, ClinVar RCV001726218, ClinVar RCV002231289, REVEL 0.36, CADD 23.90, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- R10G (p.Arg10Gly), TOPMed rs1457110544, gnomAD rs1457110544, REVEL 0.34, CADD 23.30, Benign
- R10H (p.Arg10His), TOPMed rs1367541732, gnomAD rs1367541732, REVEL 0.33, CADD 22.10
- R10S (p.Arg10Ser), gnomAD 9-134642215-C-A, REVEL 0.37, CADD 23.10
- R10L (p.Arg10Leu), gnomAD 9-134642216-G-T, REVEL 0.37, CADD 23.10
- R10P (p.Arg10Pro), gnomAD 9-134642216-G-C, REVEL 0.48, CADD 23.30
- R10R (p.Arg10Arg), rs1456650492, gnomAD 9-134642217-C-G, CADD 14.60
- S11I (p.Ser11Ile), rs2491093726, ClinGen CA375443824, ClinVar RCV003595036, REVEL 0.24, CADD 15.50, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- S11C (p.Ser11Cys), gnomAD 9-134642218-A-T, REVEL 0.22, CADD 22.10
- S11G (p.Ser11Gly), gnomAD 9-134642218-A-G, REVEL 0.14, CADD 17.10
- S11N (p.Ser11Asn), gnomAD 9-134642219-G-A, REVEL 0.12, CADD 13.40
- S11T (p.Ser11Thr), gnomAD 9-134642219-G-C, REVEL 0.20, CADD 12.70
- S11S (p.Ser11Ser), gnomAD 9-134642220-C-T, CADD 13.30
- S11R (p.Ser11Arg), gnomAD 9-134642220-C-A, REVEL 0.22, CADD 12.10
- A12E (p.Ala12Glu), rs995895784, ClinGen CA375443830, ClinVar RCV002233634, TOPMed rs995895784, REVEL 0.16, CADD 16.10, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; not specified
- A12S (p.Ala12Ser), TOPMed rs1160540030, gnomAD rs1160540030, REVEL 0.14, CADD 13.00, Benign
- A12T (p.Ala12Thr), rs1160540030, ClinGen CA375443827, ClinVar RCV001538248, ClinVar RCV002231294, REVEL 0.15, CADD 14.70, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- A12V (p.Ala12Val), TOPMed rs995895784, REVEL 0.14, CADD 15.60, Uncertain significance
- A12P (p.Ala12Pro), gnomAD 9-134642221-G-C, REVEL 0.20, CADD 15.30
- A12A (p.Ala12Ala), gnomAD 9-134642223-G-T, CADD 12.60
- L13F (p.Leu13Phe), rs762625123, ClinGen CA5318179, ClinVar RCV000458222, ClinVar RCV001718788, REVEL 0.22, CADD 15.80, Likely benign, not specified; Ehlers-Danlos syndrome, classic type; not provided
- L13P (p.Leu13Pro), gnomAD rs1831313975, REVEL 0.38, CADD 13.10
- L13R (p.Leu13Arg), gnomAD rs1831313975, REVEL 0.22, CADD 11.20
- L13I (p.Leu13Ile), gnomAD 9-134642224-C-A, REVEL 0.21, CADD 15.70
- L13V (p.Leu13Val), gnomAD 9-134642224-C-G, REVEL 0.19, CADD 15.60
- L13H (p.Leu13His), gnomAD 9-134642225-T-A, REVEL 0.26, CADD 11.10
- L13L (p.Leu13Leu), gnomAD 9-134642226-C-T, CADD 11.00
- R14C (p.Arg14Cys), rs1831314080, ClinGen CA375443839, ClinVar RCV002638843, gnomAD rs1831314080, REVEL 0.29, CADD 21.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- R14L (p.Arg14Leu), TOPMed rs1399334659, gnomAD rs1399334659, REVEL 0.28, CADD 15.40
- R14P (p.Arg14Pro), gnomAD 9-134642226-CCG-C, CADD 23.60
- R14S (p.Arg14Ser), gnomAD 9-134642227-C-A, REVEL 0.25, CADD 16.90
- R14G (p.Arg14Gly), gnomAD 9-134642227-C-G, REVEL 0.24, CADD 17.80
- R14H (p.Arg14His), gnomAD 9-134642228-G-A, REVEL 0.27, CADD 16.10
- R14R (p.Arg14Arg), rs1554772576, gnomAD 9-134642229-C-T, CADD 13.50
- P15L (p.Pro15Leu), ExAC rs768205756, TOPMed rs768205756, gnomAD rs768205756, REVEL 0.31, CADD 20.30
- P15S (p.Pro15Ser), rs2491093792, ClinGen CA375443845, ClinVar RCV003068426, ClinVar RCV005239628, REVEL 0.23, CADD 21.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; not specified
- P15R (p.Pro15Arg), gnomAD 9-134642228-GC-G, CADD 23.70
- P15T (p.Pro15Thr), gnomAD 9-134642230-C-A, REVEL 0.36, CADD 20.80
- P15Q (p.Pro15Gln), gnomAD 9-134642231-C-A, REVEL 0.29, CADD 19.00
- P15P (p.Pro15Pro), gnomAD 9-134642232-G-T, CADD 10.70
- G16D (p.Gly16Asp), TOPMed rs1318617654, gnomAD rs1318617654, REVEL 0.29, CADD 16.40
- G16A (p.Gly16Ala), gnomAD 9-134642231-CG-C, CADD 22.80
- G16C (p.Gly16Cys), gnomAD 9-134642233-G-T, REVEL 0.33, CADD 20.70
- G16S (p.Gly16Ser), gnomAD 9-134642233-G-A, REVEL 0.25, CADD 17.30
- G16V (p.Gly16Val), gnomAD 9-134642234-G-T, REVEL 0.28, CADD 15.30
- G16G (p.Gly16Gly), gnomAD 9-134642235-C-G, CADD 12.50
- A17S (p.Ala17Ser), rs890143450, ClinGen CA201068633, ClinVar RCV003071277, TOPMed rs890143450, REVEL 0.21, CADD 12.90, Benign, Ehlers-Danlos syndrome, classic type, 1
- A17P (p.Ala17Pro), gnomAD 9-134642236-G-C, REVEL 0.43, CADD 16.60
- A17T (p.Ala17Thr), gnomAD 9-134642236-G-A, REVEL 0.23, CADD 12.90
- A17G (p.Ala17Gly), gnomAD 9-134642237-C-G, REVEL 0.30, CADD 16.00
- A17V (p.Ala17Val), gnomAD 9-134642237-C-T, REVEL 0.23, CADD 15.50
- A17D (p.Ala17Asp), gnomAD 9-134642237-C-A, REVEL 0.43, CADD 16.90
- A17A (p.Ala17Ala), gnomAD 9-134642238-C-T, CADD 11.20
- P18R (p.Pro18Arg), rs1367516173, ClinGen CA375443878, ClinVar RCV002612610, 1000Genomes rs1367516173, REVEL 0.25, CADD 13.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- P18S (p.Pro18Ser), rs1060502260, ClinGen CA16612509, ClinVar RCV000518865, ClinVar RCV002230387, REVEL 0.15, CADD 14.40, Uncertain significance, not provided; not specified; Ehlers-Danlos syndrome, classic type, 1
- P18T (p.Pro18Thr), TOPMed rs1060502260, gnomAD rs1060502260, REVEL 0.19, CADD 14.00, Uncertain significance
- P18A (p.Pro18Ala), gnomAD 9-134642239-C-G, REVEL 0.21, CADD 12.30
- P18Q (p.Pro18Gln), gnomAD 9-134642240-C-A, REVEL 0.24, CADD 13.00
- P18L (p.Pro18Leu), gnomAD 9-134642240-C-T, REVEL 0.14, CADD 12.20
- P18P (p.Pro18Pro), gnomAD 9-134642241-G-T, CADD 12.50
- L19C (p.Leu19Cys), rs2491093863, ClinGen CA2580079999, ClinVar RCV002351639, Likely pathogenic
- L19A (p.Leu19Ala), gnomAD 9-134642236-G-GC, CADD 23.50
- L19L (p.Leu19Leu), gnomAD 9-134642242-C-T, CADD 11.10
- L19M (p.Leu19Met), gnomAD 9-134642242-C-A, REVEL 0.26, CADD 19.70
- L19R (p.Leu19Arg), gnomAD 9-134642243-T-G, REVEL 0.56, CADD 22.40
- L19P (p.Leu19Pro), gnomAD 9-134642243-T-C, REVEL 0.57, CADD 22.70
- L20C (p.Leu20Cys), gnomAD 9-134642243-TG-T, CADD 22.80
- L20M (p.Leu20Met), gnomAD 9-134642245-C-A, REVEL 0.24, CADD 16.00
- L20L (p.Leu20Leu), rs963245639, gnomAD 9-134642245-C-T, CADD 11.30
- L20R (p.Leu20Arg), gnomAD 9-134642246-T-G, REVEL 0.48, CADD 17.10
- L20P (p.Leu20Pro), gnomAD 9-134642246-T-C, REVEL 0.42, CADD 17.70
- L20Q (p.Leu20Gln), gnomAD 9-134642246-T-A, REVEL 0.46, CADD 16.90
- P21L (p.Pro21Leu), rs2132454969, ClinGen CA375443914, ClinVar RCV001508646, Ensembl rs2132454969, REVEL 0.22, CADD 13.80, Uncertain significance, not provided
- P21S (p.Pro21Ser), rs548525119, ClinGen CA324269, ClinVar RCV000199718, ClinVar RCV000232945, REVEL 0.16, CADD 9.54, Benign/Likely benign, Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal; Co
- P21T (p.Pro21Thr), 1000Genomes rs548525119, ExAC rs548525119, TOPMed rs548525119, gnomAD rs548525119, REVEL 0.22, CADD 8.70, Benign
- p.Pro21 Leu24del, rs1444295577, gnomAD 9-134642236-GCCCC, CADD 17.10
- P21A (p.Pro21Ala), gnomAD 9-134642248-C-G, REVEL 0.22, CADD 7.25
- P21H (p.Pro21His), gnomAD 9-134642249-C-A, REVEL 0.22, CADD 13.60
- P21P (p.Pro21Pro), gnomAD 9-134642250-C-G, CADD 10.70
- P22A (p.Pro22Ala), rs963540956, ClinGen CA201068653, ClinVar RCV003481953, TOPMed rs963540956, REVEL 0.16, CADD 11.70, Uncertain significance, not provided
- P22Q (p.Pro22Gln), rs863223467, ClinGen CA321619, ClinVar RCV000197175, ClinVar RCV003758714, REVEL 0.32, CADD 15.20, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not specified; not provided
- P22R (p.Pro22Arg), rs863223467, ClinGen CA323910, ClinVar RCV000199376, ClinVar RCV002228856, REVEL 0.31, CADD 15.10, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not specified; not provided
- P22S (p.Pro22Ser), TOPMed rs963540956, REVEL 0.12, CADD 14.60, Uncertain significance
- P22del (p.Pro22del), gnomAD 9-134642247-GCCC-, CADD 13.90
- P22C (p.Pro22Cys), gnomAD 9-134642249-CCCCG, CADD 25.40
- P22T (p.Pro22Thr), gnomAD 9-134642251-C-A, REVEL 0.19, CADD 13.30
- P22L (p.Pro22Leu), gnomAD 9-134642252-C-T, REVEL 0.18, CADD 13.50
- P22P (p.Pro22Pro), gnomAD 9-134642253-G-C, CADD 13.70
- L23V (p.Leu23Val), rs2491093987, ClinGen CA375443932, ClinVar RCV002290124, Likely benign, Ehlers-Danlos syndrome, classic type, 1
- L23A (p.Leu23Ala), gnomAD 9-134642247-G-GC, CADD 24.50
- L23L (p.Leu23Leu), gnomAD 9-134642254-C-T, CADD 12.70
- L23M (p.Leu23Met), gnomAD 9-134642254-C-A, REVEL 0.23, CADD 22.50
- L23Q (p.Leu23Gln), gnomAD 9-134642255-T-A, REVEL 0.61, CADD 21.90
- L23P (p.Leu23Pro), gnomAD 9-134642255-T-C, REVEL 0.65, CADD 22.30
- L24Q (p.Leu24Gln), rs2491094003, ClinGen CA375443951, ClinVar RCV002933103, REVEL 0.41, CADD 21.30, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- L24C (p.Leu24Cys), gnomAD 9-134642255-TG-T, CADD 25.80
- L24L (p.Leu24Leu), gnomAD 9-134642257-C-T, CADD 11.00
- L24M (p.Leu24Met), gnomAD 9-134642257-C-A, REVEL 0.33, CADD 15.40
- L24P (p.Leu24Pro), gnomAD 9-134642258-T-C, REVEL 0.48, CADD 22.00
- L25M (p.Leu25Met), gnomAD rs1207972194, REVEL 0.38, CADD 17.60
- L25P (p.Leu25Pro), rs1831316527, ClinGen CA375443961, ClinVar RCV003994784, UniProt VAR 057902, REVEL 0.66, AlphaMissense 0.26, Pathogenic, Ehlers-Danlos syndrome, classic type, 1
- L25R (p.Leu25Arg), rs1831316527, ClinGen CA375443964, ClinVar RCV002242632, UniProt VAR 057903, AlphaMissense 0.26, MetaLR 0.60, Pathogenic, Ehlers-Danlos syndrome, classic type, 1
- p.Leu25 Leu28del, gnomAD 9-134642252-CGCTG, CADD 20.70
- L25V (p.Leu25Val), gnomAD 9-134642260-C-G, REVEL 0.25, CADD 15.90
- L25L (p.Leu25Leu), gnomAD 9-134642260-C-T, CADD 13.10
- L25Q (p.Leu25Gln), gnomAD 9-134642261-T-A, REVEL 0.63, CADD 22.50
- L26V (p.Leu26Val), TOPMed rs1254852661, gnomAD rs1254852661, REVEL 0.23, CADD 19.20, Likely benign
- p.Leu26 Leu28del, rs773994971, gnomAD 9-134642252-CGCTG, CADD 19.30
- L26C (p.Leu26Cys), gnomAD 9-134642261-TG-T, CADD 25.00
- L26A (p.Leu26Ala), gnomAD 9-134642262-GCT-G, CADD 27.50
- L26M (p.Leu26Met), gnomAD 9-134642263-C-A, REVEL 0.36, CADD 21.00
- L26P (p.Leu26Pro), gnomAD 9-134642263-CTG-C, CADD 27.20
- L26L (p.Leu26Leu), rs1254852661, gnomAD 9-134642263-C-T, CADD 14.00
- L26R (p.Leu26Arg), gnomAD 9-134642263-CT-C, CADD 26.80
- L26Q (p.Leu26Gln), gnomAD 9-134642264-T-A, REVEL 0.57, CADD 23.00
- p.Leu27 Leu28del, gnomAD 9-134642252-CGCTG, CADD 19.30
- L27A (p.Leu27Ala), gnomAD 9-134642264-TGC-T, CADD 27.80
- L27C (p.Leu27Cys), gnomAD 9-134642264-TG-T, CADD 26.40
- L27L (p.Leu27Leu), gnomAD 9-134642266-C-T, CADD 14.70
- L27M (p.Leu27Met), gnomAD 9-134642266-C-A, REVEL 0.39, CADD 23.70
- L27P (p.Leu27Pro), gnomAD 9-134642266-CTG-C, CADD 29.90
- L27R (p.Leu27Arg), gnomAD 9-134642266-CTGCT, CADD 31.00
- L27V (p.Leu27Val), gnomAD 9-134642266-C-G, REVEL 0.29, CADD 22.80
- L27Q (p.Leu27Gln), gnomAD 9-134642267-T-A, REVEL 0.49, CADD 25.50
- L28R (p.Leu28Arg), rs2491094145, ClinGen CA375443996, ClinVar RCV003977088, REVEL 0.68, CADD 28.20, Uncertain significance, COL5A1-related disorder
- L28M (p.Leu28Met), rs1312200383, ClinGen CA375443987, ClinVar RCV001553163, ClinVar RCV001860394, REVEL 0.40, CADD 26.10, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- p.Leu28dup, rs773994971, gnomAD 9-134642252-C-CGC, CADD 18.50
- L28del (p.Leu28del), rs773994971, gnomAD 9-134642252-CGCT-, CADD 18.00
- L28V (p.Leu28Val), gnomAD 9-134642267-TGC-T, CADD 31.00
- L28C (p.Leu28Cys), gnomAD 9-134642267-TG-T, CADD 29.90
- L28W (p.Leu28Trp), gnomAD 9-134642268-G-GTG, CADD 31.00
- L28L (p.Leu28Leu), gnomAD 9-134642269-C-T, CADD 15.00
- L28Q (p.Leu28Gln), gnomAD 9-134642270-T-A, REVEL 0.56, CADD 27.90
Public COL5A1 analysis runs
- COL5A1 analysis run — COL5A1 (2,788 variants) — completed 2026-08-20