COL11A1 (Collagen alpha-1(XI) chain) variants and mutations
COL11A1 (also known as Collagen alpha-1(XI) chain) is a human protein-coding gene encoding a collagen alpha-1(XI) chain protein. A chain of type XI collagen, an extracellular-matrix protein found in cartilage and the eye. Variants can cause Stickler or Marshall syndrome. This analysis covers 2,685 COL11A1 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes Stickler syndrome type 2, Marshall syndrome, and fibrochondrogenesis 1. Example COL11A1 variants include P3L, W4R, and S5F.
Variant analysis overview
- Gene: COL11A1
- Protein: Collagen alpha-1(XI) chain
- UniProt accession: P12107
- Organism: Homo sapiens
- Variants analyzed: 2685
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 3,028 unspecified-consequence records; 1 stop retained variant; 95 synonymous variants; 119 missense variants; 5 stop-gained variants; 5 splice-region variants; 2 in-frame deletions; 12 frameshift variants
- Prediction scores: 2,493 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Stickler syndrome type 2, Marshall syndrome, fibrochondrogenesis 1, fibrochondrogenesis, autosomal dominant nonsyndromic hearing loss, Stickler syndrome, Dupuytren Contracture, osteoarthritis, hip, osteoarthritis, sensorineural hearing loss disorder, intervertebral disk degenerative disorder, hereditary disease.
Protein structure and variant hotspots
- Protein features: 10 domains; 5 binding sites; 3 post-translational modification sites.
- Structural context: 1,279 variants have structural context.
- PTM context: 5 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.
Diseases linked to COL11A1
- Autosomal dominant nonsyndromic hearing loss genes and variants
- Stickler syndrome genes and variants
- Hearing loss genes and variants
- Monogenic hearing loss genes and variants
- Autism genes and variants
- Sensorineural hearing loss genes and variants
- Fibrochondrogenesis genes and variants
- Marshall syndrome genes and variants
- Connective tissue disease genes and variants
Notable COL11A1 variants
Examples include P3L, W4R, S5F, S6F, R7K, W8C, W8G, T10G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- P3L (p.Pro3Leu), rs754339349, NCI-TCGA Cosmic COSV6220, cosmic curated COSV62200, ExAC rs754339349, REVEL 0.06, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- W4R (p.Trp4Arg), rs766915989, ClinGen CA975591, ClinVar RCV002858022, ExAC rs766915989, REVEL 0.11, ESM-1b 0.00, Likely benign, not provided
- S5F (p.Ser5Phe), cosmic curated COSV62174, Ensembl rs898074685, ESM-1b 0.00, AlphaMissense 0.18
- S6F (p.Ser6Phe), 1000Genomes rs528624430, ExAC rs528624430, gnomAD rs528624430, REVEL 0.08, ESM-1b 0.00
- R7K (p.Arg7Lys), TOPMed rs1244836532, gnomAD rs1244836532, REVEL 0.12, ESM-1b 0.00
- W8C (p.Trp8Cys), rs1674862237, ClinGen CA341159879, ClinVar RCV004543924, TOPMed rs1674862237, ESM-1b 0.00, AlphaMissense 0.78, Uncertain significance, COL11A1-related disorder
- W8G (p.Trp8Gly), rs12025888, UniProt VAR 047723, Ensembl rs12025888, ESM-1b 0.00, AlphaMissense 0.36
- T10G (p.Thr10Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- T10A (p.Thr10Ala), rs1448932139, ClinGen CA341159833, ClinVar RCV001894814, gnomAD rs1448932139, REVEL 0.15, ESM-1b 0.00, Likely benign, not provided
- T10K (p.Thr10Lys), rs1024598882, ClinGen CA341159830, ClinVar RCV002909563, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- T10M (p.Thr10Met), rs1024598882, NCI-TCGA Cosmic COSV6217, cosmic curated COSV62176, Ensembl rs1024598882, REVEL 0.12, ESM-1b 0.00, Uncertain significance
- K11E (p.Lys11Glu), rs773297282, ClinGen CA975589, ClinVar RCV003442473, ExAC rs773297282, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- R12L (p.Arg12Leu), ExAC rs767496065, TOPMed rs767496065, gnomAD rs767496065, REVEL 0.23, ESM-1b 0.00, Benign
- R12P (p.Arg12Pro), rs767496065, ClinGen CA10607219, ClinVar RCV000312535, ClinVar RCV000367252, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, Fibrochondrogenesis 1; Inborn genetic diseases; Stickler syndrome type 2
- R12Q (p.Arg12Gln), rs767496065, ClinGen CA975588, ClinVar RCV001596177, ClinVar RCV003161150, REVEL 0.15, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not specified; COL11A1-related disorder
- W13C (p.Trp13Cys), ExAC rs762034138, gnomAD rs762034138, REVEL 0.11, ESM-1b 0.00
- L14F (p.Leu14Phe), Ensembl rs1674860322, REVEL 0.05, ESM-1b 0.00
- W15R (p.Trp15Arg), rs774767622, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, ExAC rs774767622, REVEL 0.20, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D16N (p.Asp16Asn), rs1674859557, ClinGen CA341159640, ClinVar RCV002609578, TOPMed rs1674859557, REVEL 0.04, ESM-1b 0.00, Uncertain significance, not provided
- D16Y (p.Asp16Tyr), TOPMed rs1674859557, gnomAD rs1674859557, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance
- T18A (p.Thr18Ala), rs114630202, ClinGen CA975585, ClinVar RCV001772714, 1000Genomes rs114630202, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- T18I (p.Thr18Ile), rs2102453221, ClinGen CA341159574, NCI-TCGA Cosmic COSV6219, cosmic curated COSV62198, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not provided
- T18N (p.Thr18Asn), rs2102453221, ClinGen CA341159582, ClinVar RCV003678521, REVEL 0.03, ESM-1b 1.00, Uncertain significance, not provided
- T18S (p.Thr18Ser), rs114630202, ClinGen CA975584, ClinVar RCV000732953, ClinVar RCV000830594, REVEL 0.03, ESM-1b 0.00, Conflicting interpretations, not provided; not specified; Inborn genetic diseases
- V19I (p.Val19Ile), cosmic curated COSV62180, ExAC rs770851098, gnomAD rs770851098, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not provided
- V19L (p.Val19Leu), rs770851098, ClinGen CA341159550, ClinVar RCV003044873, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, not provided
- T20I (p.Thr20Ile), TOPMed rs1284115273, REVEL 0.09, ESM-1b 0.00
- T20R (p.Thr20Arg), TOPMed rs1284115273, REVEL 0.15, ESM-1b 0.00
- T21I (p.Thr21Ile), rs375761728, ClinGen CA975581, ClinVar RCV003550958, ESP rs375761728, REVEL 0.06, ESM-1b 0.00, Benign, not provided
- T21N (p.Thr21Asn), ESP rs375761728, ExAC rs375761728, TOPMed rs375761728, gnomAD rs375761728, REVEL 0.04, ESM-1b 1.00, Benign
- L22F (p.Leu22Phe), TOPMed rs1327862186, gnomAD rs1327862186, REVEL 0.07, ESM-1b 0.00
- A23G (p.Ala23Gly), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, Variant assessed as somatic; moderate impact.
- A23P (p.Ala23Pro), TOPMed rs1386580787, gnomAD rs1386580787, ESM-1b 1.00, AlphaMissense 0.40, Uncertain significance
- A23S (p.Ala23Ser), rs1386580787, ClinGen CA341159462, ClinVar RCV001565716, TOPMed rs1386580787, ESM-1b 0.00, AlphaMissense 0.40, Conflicting interpretations, not provided
- A23T (p.Ala23Thr), rs1386580787, NCI-TCGA Cosmic COSV6218, cosmic curated COSV62181, TOPMed rs1386580787, REVEL 0.14, ESM-1b 0.00, Uncertain significance
- A23V (p.Ala23Val), gnomAD rs1674856776, REVEL 0.11, ESM-1b 0.00
- L24V (p.Leu24Val), ExAC rs757861232, gnomAD rs757861232, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- T25I (p.Thr25Ile), TOPMed rs1674856297, gnomAD rs1674856297, REVEL 0.07, ESM-1b 0.00
- F26S (p.Phe26Ser), rs2526512469, ClinGen CA341159342, ClinVar RCV003661995, ESM-1b 0.00, AlphaMissense 0.25, Uncertain significance, not provided
- L27V (p.Leu27Val), rs2102453014, ClinGen CA341159320, ClinVar RCV001922790, Ensembl rs2102453014, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, not provided
- R31T (p.Arg31Thr), rs1166096502, ClinGen CA341159210, ClinVar RCV003811082, ClinVar RCV005545112, REVEL 0.09, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- E32G (p.Glu32Gly), ExAC rs778603790, gnomAD rs778603790, REVEL 0.07, ESM-1b 0.00, Likely benign, not provided
- V33I (p.Val33Ile), rs755307749, ClinGen CA975576, ClinVar RCV002049452, ExAC rs755307749, REVEL 0.05, ESM-1b 0.00, Conflicting interpretations, not provided
- R34I (p.Arg34Ile), cosmic curated COSV62171, TOPMed rs1407144872, REVEL 0.08, ESM-1b 0.67
- G35T (p.Gly35Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A37V (p.Ala37Val), rs369749483, ClinGen CA975551, ClinVar RCV002745413, 1000Genomes rs369749483, REVEL 0.03, ESM-1b 0.00, Likely benign, not provided
- P38L (p.Pro38Leu), rs781586633, ClinGen CA975550, ClinVar RCV003822387, ExAC rs781586633, REVEL 0.44, ESM-1b 1.00, Likely benign, not provided
- P38S (p.Pro38Ser), rs2526238703, ClinGen CA341168936, ClinVar RCV002851461, REVEL 0.25, ESM-1b 0.24, Uncertain significance, not provided
- V39A (p.Val39Ala), rs1219599526, ClinGen CA341168923, cosmic curated COSV10648, ClinVar RCV003580139, REVEL 0.18, ESM-1b 1.00, Likely benign, not provided
- V41I (p.Val41Ile), rs751641017, ClinGen CA975548, ClinVar RCV002306186, ExAC rs751641017, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- L42P (p.Leu42Pro), rs2526238537, ClinGen CA341168890, ClinVar RCV003565829, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, not provided
- L42Q (p.Leu42Gln), rs2526238537, ClinGen CA341168891, ClinVar RCV004527994, ESM-1b 1.00, AlphaMissense 0.92, Uncertain significance, COL11A1-related disorder
- A44G (p.Ala44Gly), gnomAD rs1470129804, REVEL 0.10, ESM-1b 1.00
- A44T (p.Ala44Thr), rs150090939, ClinGen CA975546, cosmic curated COSV62178, ClinVar RCV000279365, REVEL 0.13, ESM-1b 1.00, Benign/Likely benign, not provided; Fibrochondrogenesis 1; Connective tissue disorder
- L45V (p.Leu45Val), rs1038296607, ClinGen CA27756414, ClinVar RCV002597825, TOPMed rs1038296607, REVEL 0.33, ESM-1b 1.00, Likely benign, not provided
- D46E (p.Asp46Glu), rs11164663, ClinGen CA975544, ClinVar RCV000250002, ClinVar RCV000275406, REVEL 0.13, ESM-1b 1.00, Benign/Likely benign, not specified; not provided; Fibrochondrogenesis 1
- D46V (p.Asp46Val), gnomAD rs1292563811, REVEL 0.14, ESM-1b 1.00
- F47I (p.Phe47Ile), rs143159512, ClinGen CA975543, ClinVar RCV000680463, ClinVar RCV002060857, REVEL 0.20, ESM-1b 0.00, Likely benign, Connective tissue disorder; not provided; not specified
- F47L (p.Phe47Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, 1000Genomes rs143159512, ESP rs143159512, ESM-1b 0.00, AlphaMissense 0.79, Likely benign
- H48R (p.His48Arg), gnomAD rs1186262161, REVEL 0.22, ESM-1b 1.00
- N49S (p.Asn49Ser), rs145159429, ClinGen CA975542, ClinVar RCV000518863, ClinVar RCV002525238, REVEL 0.08, ESM-1b 0.23, Conflicting interpretations, Inborn genetic diseases; not specified; not provided
- S50Y (p.Ser50Tyr), Ensembl rs1672530176, REVEL 0.07, ESM-1b 1.00
- P51R (p.Pro51Arg), ExAC rs771956360, gnomAD rs771956360, REVEL 0.53, ESM-1b 1.00
- P51S (p.Pro51Ser), rs2526237954, ClinGen CA341168803, ClinVar RCV002300430, ESM-1b 1.00, AlphaMissense 0.19, Uncertain significance, not provided
- E52D (p.Glu52Asp), gnomAD rs1047945584, REVEL 0.09, ESM-1b 0.00, Likely benign
- E52Q (p.Glu52Gln), rs761765612, NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6219, cosmic curated COSV62195, REVEL 0.16, ESM-1b 1.00, Uncertain significance, COL11A1-related disorder
- G53E (p.Gly53Glu), rs139542185, ClinGen CA975539, ClinVar RCV002009841, ESP rs139542185, REVEL 0.59, ESM-1b 1.00, Conflicting interpretations, COL11A1-related disorder; not provided
- G53R (p.Gly53Arg), rs1230337575, ClinGen CA341168794, ClinVar RCV001943770, TOPMed rs1230337575, REVEL 0.65, ESM-1b 1.00, Uncertain significance, not provided
- K56R (p.Lys56Arg), gnomAD rs1226026683, REVEL 0.09, ESM-1b 0.00
- T57A (p.Thr57Ala), ExAC rs768163272, gnomAD rs768163272, REVEL 0.21, ESM-1b 0.00
- T57R (p.Thr57Arg), ExAC rs748922582, gnomAD rs748922582, REVEL 0.36, ESM-1b 1.00
- T58A (p.Thr58Ala), ExAC rs779635348, gnomAD rs779635348, ESM-1b 0.00, AlphaMissense 0.06
- T58K (p.Thr58Lys), rs770162224, ClinGen CA341168748, cosmic curated COSV62194, ClinVar RCV002013056, ESM-1b 1.00, AlphaMissense 0.12, Uncertain significance, not provided
- T58M (p.Thr58Met), rs770162224, ClinGen CA975535, cosmic curated COSV62181, ClinVar RCV000519601, REVEL 0.11, ESM-1b 1.00, Conflicting interpretations, not provided
- G59R (p.Gly59Arg), rs1044368824, TOPMed rs1044368824, gnomAD rs1044368824, ClinGen CA27756350, REVEL 0.57, ESM-1b 1.00, Uncertain significance, not provided
- F60C (p.Phe60Cys), rs948856403, ClinGen CA27756346, ClinVar RCV003691305, Ensembl rs948856403, ESM-1b 1.00, AlphaMissense 0.85, Uncertain significance, not provided
- F60L (p.Phe60Leu), gnomAD rs1434633749, REVEL 0.16, ESM-1b 1.00, Likely benign, not provided
- C61G (p.Cys61Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C61T (p.Cys61Thr), rs1674861354, ClinGen CA341159788, NCI-TCGA Cosmic COSV6217, ClinVar RCV003816982, Uncertain significance
- C61A (p.Cys61Ala), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, Variant assessed as somatic; moderate impact.
- T62I (p.Thr62Ile), rs746264058, ClinGen CA341168709, ClinVar RCV003681955, ExAC rs746264058, REVEL 0.22, ESM-1b 0.06, Uncertain significance, not provided
- T62R (p.Thr62Arg), rs746264058, ClinGen CA975534, ClinVar RCV003854260, ExAC rs746264058, REVEL 0.21, ESM-1b 1.00, Likely benign, not provided
- T62A (p.Thr62Ala), NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6218, cosmic curated COSV62185, Variant assessed as somatic; moderate impact.
- N63S (p.Asn63Ser), ExAC rs757797166, gnomAD rs757797166, REVEL 0.06, ESM-1b 0.00
- R64K (p.Arg64Lys), rs1272896075, ClinGen CA341168691, ClinVar RCV002278992, gnomAD rs1272896075, REVEL 0.28, ESM-1b 1.00, Conflicting interpretations, not provided
- K65N (p.Lys65Asn), TOPMed rs928084007, gnomAD rs928084007, REVEL 0.08, ESM-1b 1.00, Uncertain significance, not provided
- K65R (p.Lys65Arg), rs200396868, ClinGen CA975531, ClinVar RCV001763950, 1000Genomes rs200396868, REVEL 0.14, ESM-1b 0.00, Conflicting interpretations, not specified; not provided
- N66I (p.Asn66Ile), TOPMed rs1672524152, ESM-1b 1.00, AlphaMissense 0.14
- N66Y (p.Asn66Tyr), TOPMed rs1672524361, REVEL 0.40, ESM-1b 1.00
- K68R (p.Lys68Arg), rs2526236880, ClinGen CA341168639, ClinVar RCV002999435, ESM-1b 0.89, AlphaMissense 0.07, Uncertain significance, not provided
- G69C (p.Gly69Cys), TOPMed rs1244439112, gnomAD rs1244439112, REVEL 0.52, ESM-1b 1.00
- G69D (p.Gly69Asp), rs758610033, ClinGen CA341168629, ClinVar RCV003573927, ExAC rs758610033, REVEL 0.21, ESM-1b 0.69, Uncertain significance, not provided
- G69S (p.Gly69Ser), TOPMed rs1244439112, gnomAD rs1244439112, ESM-1b 0.00, AlphaMissense 0.07
- G69V (p.Gly69Val), rs758610033, ClinGen CA975529, NCI-TCGA Cosmic COSV6218, cosmic curated COSV62185, REVEL 0.50, ESM-1b 1.00, Conflicting interpretations, Inborn genetic diseases; not provided
- S70L (p.Ser70Leu), rs990402514, ClinGen CA27756310, ClinVar RCV001989972, Ensembl rs990402514, REVEL 0.36, ESM-1b 0.63, Uncertain significance, not provided; COL11A1-related disorder
- D71N (p.Asp71Asn), Ensembl rs1672522746, REVEL 0.66, ESM-1b 1.00
- D71V (p.Asp71Val), ExAC rs755917103, TOPMed rs755917103, gnomAD rs755917103, REVEL 0.92, ESM-1b 1.00
- T72A (p.Thr72Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- T72I (p.Thr72Ile), rs56230601, ClinGen CA341168597, ClinVar RCV003698428, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- T72S (p.Thr72Ser), rs56230601, ClinGen CA221845, ClinVar RCV000079907, ClinVar RCV000269415, REVEL 0.16, ESM-1b 0.56, Conflicting interpretations, not specified; not provided; Fibrochondrogenesis 1
- A73V (p.Ala73Val), rs1672522063, ClinGen CA341168591, ClinVar RCV001300311, ClinVar RCV002541924, REVEL 0.52, ESM-1b 1.00, Uncertain significance, not provided; Inborn genetic diseases
- V76I (p.Val76Ile), ExAC rs774327003, TOPMed rs774327003, gnomAD rs774327003, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Inborn genetic diseases
- V76L (p.Val76Leu), ExAC rs774327003, TOPMed rs774327003, gnomAD rs774327003, REVEL 0.22, ESM-1b 0.79
- S77* (p.Ser77Ter), Ensembl rs1672520838
- Q79E (p.Gln79Glu), TOPMed rs1672520382, ESM-1b 0.00, AlphaMissense 0.06
- A80V (p.Ala80Val), TOPMed rs1672519979, ESM-1b 0.00, AlphaMissense 0.15
- Q81R (p.Gln81Arg), rs1672519599, ClinGen CA341168502, ClinVar RCV002297417, gnomAD rs1672519599, REVEL 0.42, ESM-1b 1.00, Uncertain significance, not provided
- A84V (p.Ala84Val), rs1290800296, gnomAD rs1290800296, REVEL 0.22, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P85A (p.Pro85Ala), ExAC rs775183408, TOPMed rs775183408, gnomAD rs775183408, REVEL 0.45, ESM-1b 1.00
- P85T (p.Pro85Thr), ExAC rs775183408, TOPMed rs775183408, gnomAD rs775183408, ESM-1b 1.00, AlphaMissense 0.34
- T86K (p.Thr86Lys), rs2526235979, ClinGen CA341168470, ClinVar RCV003697552, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance, not provided
- Q88E (p.Gln88Glu), rs745563977, ClinGen CA975518, ClinVar RCV002975687, ExAC rs745563977, REVEL 0.18, ESM-1b 0.00, Uncertain significance, not provided
- Q88H (p.Gln88His), ExAC rs776794060, gnomAD rs776794060, REVEL 0.23, ESM-1b 1.00
- Q88L (p.Gln88Leu), rs1302541426, ClinGen CA341168455, ClinVar RCV003860568, gnomAD rs1302541426, REVEL 0.32, ESM-1b 0.90, Likely benign, not provided
- F90I (p.Phe90Ile), rs373790561, ClinGen CA975516, ClinVar RCV003237211, ClinVar RCV005429104, REVEL 0.42, ESM-1b 1.00, Conflicting interpretations, not provided
- F90L (p.Phe90Leu), rs373790561, ClinGen CA341168446, ClinVar RCV003021746, ESP rs373790561, REVEL 0.41, ESM-1b 1.00, Uncertain significance, not provided
- F90Y (p.Phe90Tyr), rs986681092, ClinGen CA27756255, ClinVar RCV001921258, ClinVar RCV005238069, REVEL 0.14, ESM-1b 0.42, Conflicting interpretations, not provided; COL11A1-related disorder; not specified
- P91L (p.Pro91Leu), TOPMed rs1672517531, gnomAD rs1672517531, REVEL 0.42, ESM-1b 1.00, Uncertain significance
- P91R (p.Pro91Arg), rs1672517531, ClinGen CA341168437, ClinVar RCV001763117, TOPMed rs1672517531, ESM-1b 1.00, AlphaMissense 0.11, Uncertain significance, not provided
- P91S (p.Pro91Ser), rs747506988, NCI-TCGA Cosmic COSV6219, cosmic curated COSV62190, ExAC rs747506988, REVEL 0.20, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G92V (p.Gly92Val), rs1372284079, ClinGen CA341168092, ClinVar RCV001761354, TOPMed rs1372284079, REVEL 0.13, ESM-1b 1.00, Uncertain significance, not provided
- G93T (p.Gly93Thr), NCI-TCGA Cosmic COSV1006, Variant assessed as somatic; moderate impact.
- T94A (p.Thr94Ala), rs780290869, ClinGen CA975487, ClinVar RCV003572905, ExAC rs780290869, REVEL 0.17, ESM-1b 0.00, Likely benign, not provided
- T94I (p.Thr94Ile), rs1283924469, ClinGen CA341168079, ClinVar RCV001249437, ClinVar RCV001587283, REVEL 0.12, ESM-1b 0.00, Conflicting interpretations, COL11A1-related disorder; not specified; not provided
- T94S (p.Thr94Ser), TOPMed rs1283924469, gnomAD rs1283924469, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases; not provided
- F95L (p.Phe95Leu), Ensembl rs1571229795, ESM-1b 1.00, AlphaMissense 0.93
- F95S (p.Phe95Ser), rs2102303811, ClinGen CA341168074, ClinVar RCV001885614, Ensembl rs2102303811, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance, not provided
- P96L (p.Pro96Leu), rs757021843, ClinGen CA975486, ClinVar RCV004527192, ExAC rs757021843, REVEL 0.49, ESM-1b 1.00, Uncertain significance, not specified
- F99L (p.Phe99Leu), rs2102303756, ClinGen CA341168049, ClinVar RCV002028073, Ensembl rs2102303756, ESM-1b 1.00, AlphaMissense 0.97, Uncertain significance, not provided
- I101V (p.Ile101Val), rs751303776, ClinGen CA975485, ClinVar RCV002049769, ExAC rs751303776, REVEL 0.08, ESM-1b 0.19, Benign, not provided
- T104K (p.Thr104Lys), gnomAD rs1324002400, REVEL 0.53, ESM-1b 1.00
- V105E (p.Val105Glu), gnomAD rs1407636928, REVEL 0.35, ESM-1b 1.00
- V105I (p.Val105Ile), gnomAD rs1284742042, REVEL 0.02, ESM-1b 0.00
- P107Q (p.Pro107Gln), gnomAD rs1443536213, REVEL 0.26, ESM-1b 1.00
- P107S (p.Pro107Ser), rs1298293526, ClinGen CA341167994, ClinVar RCV001887974, gnomAD rs1298293526, REVEL 0.22, ESM-1b 1.00, Uncertain significance, not provided
- P107T (p.Pro107Thr), cosmic curated COSV62179, gnomAD rs1298293526, REVEL 0.17, ESM-1b 1.00, Uncertain significance
- K108E (p.Lys108Glu), rs752692524, ClinGen CA975482, ClinVar RCV001894601, ExAC rs752692524, REVEL 0.25, ESM-1b 1.00, Benign, not provided
- K108R (p.Lys108Arg), rs1173736609, ClinGen CA341167988, ClinVar RCV001924717, gnomAD rs1173736609, REVEL 0.15, ESM-1b 1.00, Uncertain significance, not provided
- K108T (p.Lys108Thr), gnomAD rs1173736609, REVEL 0.28, ESM-1b 1.00, Uncertain significance
- K109N (p.Lys109Asn), rs2526189733, ClinGen CA341167976, ClinVar RCV003684067, ESM-1b 1.00, AlphaMissense 0.38, Uncertain significance, not provided
- G110* (p.Gly110Ter), cosmic curated COSV11523, ESP rs141978499, ExAC rs141978499, TOPMed rs141978499, Likely benign
- G110R (p.Gly110Arg), rs141978499, ClinGen CA975481, cosmic curated COSV10591, ClinVar RCV000351685, REVEL 0.41, ESM-1b 1.00, Uncertain significance, Connective tissue disorder
- G110V (p.Gly110Val), gnomAD rs1471161554, REVEL 0.49, ESM-1b 1.00, Uncertain significance, not provided
- I111F (p.Ile111Phe), rs759153754, ClinGen CA975480, ClinVar RCV001906977, ClinVar RCV004738433, REVEL 0.09, ESM-1b 1.00, Conflicting interpretations, not provided
- S113F (p.Ser113Phe), ExAC rs753510370, gnomAD rs753510370, REVEL 0.63, ESM-1b 1.00
- L115R (p.Leu115Arg), rs2526189553, ClinGen CA341167938, ClinVar RCV002574758, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, Hearing loss, autosomal dominant 37
- L116I (p.Leu116Ile), ExAC rs760427659, gnomAD rs760427659, REVEL 0.53, ESM-1b 1.00
- S117C (p.Ser117Cys), rs143396707, ClinGen CA975476, ClinVar RCV001765002, ESP rs143396707, REVEL 0.78, ESM-1b 1.00, Uncertain significance, not provided
- I118M (p.Ile118Met), TOPMed rs944161796, gnomAD rs944161796, ESM-1b 1.00, AlphaMissense 0.11, Uncertain significance, not provided
- I118T (p.Ile118Thr), rs1261502451, ClinGen CA341167923, cosmic curated COSV62177, ClinVar RCV002038778, REVEL 0.32, ESM-1b 1.00, Benign, not provided
- I118V (p.Ile118Val), rs202212358, ClinGen CA975475, ClinVar RCV002474159, ClinVar RCV004612176, REVEL 0.03, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- Y119N (p.Tyr119Asn), TOPMed rs1672177218, ESM-1b 1.00, AlphaMissense 0.97
- N120D (p.Asn120Asp), gnomAD rs1325493665, REVEL 0.30, ESM-1b 0.19
- E121D (p.Glu121Asp), TOPMed rs1238295283, gnomAD rs1238295283, REVEL 0.27, ESM-1b 0.53
- E121K (p.Glu121Lys), rs762173332, ClinGen CA975474, ClinVar RCV003480542, 1000Genomes rs762173332, REVEL 0.59, ESM-1b 1.00, Conflicting interpretations, COL11A1-related disorder; not provided
- H122D (p.His122Asp), gnomAD rs1469555372, ESM-1b 1.00, AlphaMissense 0.09, Uncertain significance
- H122N (p.His122Asn), cosmic curated COSV62196, gnomAD rs1469555372, REVEL 0.10, ESM-1b 0.33, Uncertain significance
- H122P (p.His122Pro), rs1315092621, ClinGen CA341167895, ClinVar RCV002038565, ClinVar RCV003994381, REVEL 0.19, ESM-1b 1.00, Conflicting interpretations, not specified; not provided
- H122Q (p.His122Gln), rs2526189139, ClinGen CA341167891, ClinVar RCV003059230, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not provided
- H122Y (p.His122Tyr), rs1469555372, ClinGen CA341167896, cosmic curated COSV10591, ClinVar RCV003552134, REVEL 0.16, ESM-1b 1.00, Uncertain significance, not provided
- G123A (p.Gly123Ala), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10061, Variant assessed as somatic; moderate impact.
- G123D (p.Gly123Asp), cosmic curated COSV62182, gnomAD rs1391480996, REVEL 0.31, ESM-1b 1.00
- G123S (p.Gly123Ser), rs1309002302, ClinGen CA341167890, NCI-TCGA Cosmic COSV6217, cosmic curated COSV62177, REVEL 0.28, ESM-1b 1.00, Uncertain significance, not provided
- I124M (p.Ile124Met), gnomAD rs1381314285, REVEL 0.37, ESM-1b 1.00
- Q126K (p.Gln126Lys), cosmic curated COSV62175, Ensembl rs1428096584, ESM-1b 1.00, AlphaMissense 0.77
- I127V (p.Ile127Val), ExAC rs774983366, gnomAD rs774983366, REVEL 0.25, ESM-1b 0.00, Likely benign, not provided
- G128S (p.Gly128Ser), cosmic curated COSV62184, ExAC rs768583987, gnomAD rs768583987, REVEL 0.49, ESM-1b 1.00
- G128V (p.Gly128Val), gnomAD rs1407358543, REVEL 0.65, ESM-1b 1.00
- V129I (p.Val129Ile), rs1672174219, ClinGen CA341167850, ClinVar RCV001197819, Ensembl rs1672174219, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Marshall syndrome
- E130K (p.Glu130Lys), rs2102303130, ClinGen CA341167844, ClinVar RCV002251034, Ensembl rs2102303130, REVEL 0.79, ESM-1b 1.00, Uncertain significance, Hearing loss, autosomal dominant 37
- V131F (p.Val131Phe), rs1158320165, NCI-TCGA Cosmic COSV6219, cosmic curated COSV62195, TOPMed rs1158320165, REVEL 0.52, ESM-1b 1.00, Uncertain significance
- V131I (p.Val131Ile), rs1158320165, ClinGen CA341167836, ClinVar RCV002659034, ClinVar RCV005321210, REVEL 0.26, ESM-1b 0.18, Uncertain significance, not provided; Inborn genetic diseases
- V131L (p.Val131Leu), TOPMed rs1158320165, gnomAD rs1158320165, ESM-1b 0.72, AlphaMissense 0.23, Uncertain significance
- G132R (p.Gly132Arg), rs749430584, ExAC rs749430584, gnomAD rs749430584, REVEL 0.93, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- R133S (p.Arg133Ser), gnomAD rs1366081032, REVEL 0.20, ESM-1b 1.00
- S134* (p.Ser134Ter), TOPMed rs1672173379
- P135S (p.Pro135Ser), ExAC rs780128263, gnomAD rs780128263, REVEL 0.68, ESM-1b 1.00
- F137S (p.Phe137Ser), ExAC rs769960670, TOPMed rs769960670, gnomAD rs769960670, REVEL 0.66, ESM-1b 1.00
- F137V (p.Phe137Val), rs889868652, ClinGen CA27754585, ClinVar RCV002770791, TOPMed rs889868652, REVEL 0.59, ESM-1b 1.00, Likely benign, not provided
- L138V (p.Leu138Val), TOPMed rs1672172274, ESM-1b 1.00, AlphaMissense 0.38
Public COL11A1 analysis runs
- COL11A1 analysis run — COL11A1 (2,685 variants) — completed 2026-10-09