COMP (P49747) variants and mutations
COMP (also known as P49747) is a human protein-coding gene encoding a cartilage oligomeric matrix protein. An extracellular-matrix protein that interacts with collagens and other cartilage components to support cartilage structure. Variants can cause pseudoachondroplasia or multiple epiphyseal dysplasia. This analysis covers 1,302 COMP variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes multiple epiphyseal dysplasia type 1, pseudoachondroplasia, and carpal tunnel syndrome. Example COMP variants include M1V, V2F, and P3A.
Variant analysis overview
- Gene: COMP
- Protein: P49747
- UniProt accession: P49747
- Organism: Homo sapiens
- Variants analyzed: 1302
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 1,104 unspecified-consequence records; 1 stop retained variant; 101 synonymous variants; 105 missense variants; 29 frameshift variants; 9 stop-gained variants; 4 in-frame deletions; 1 splice-region variants; 4 substitution
- Prediction scores: 1,277 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: multiple epiphyseal dysplasia type 1, pseudoachondroplasia, carpal tunnel syndrome, aortic stenosis, COMP-related skeletal dysplasia, neurodegenerative disease, multiple epiphyseal dysplasia, Beighton type, Digital flexor tenosynovitis, Abnormality of the skeletal system, Parkinson disease, Alzheimer disease, lysosomal storage disease.
Protein structure and variant hotspots
- Protein features: 5 domains; 2 post-translational modification sites.
- Structural context: 714 variants have structural context.
- PTM context: 2 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.
Diseases linked to COMP
Notable COMP variants
Examples include M1V, V2F, P3A, P3L, P3R, P3S, D4A, D4Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs2145906023, ClinGen CA404900075, ClinVar RCV001543623, ESM-1b 1.00, AlphaMissense 0.07, Uncertain significance, Carpal tunnel syndrome 2
- V2F (p.Val2Phe), TOPMed rs973791626, gnomAD rs973791626, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- P3A (p.Pro3Ala), ExAC rs747780884, TOPMed rs747780884, gnomAD rs747780884, REVEL 0.16, ESM-1b 0.00, Uncertain significance, not provided
- P3L (p.Pro3Leu), ExAC rs778579333, gnomAD rs778579333, REVEL 0.12, ESM-1b 0.00
- P3R (p.Pro3Arg), ExAC rs778579333, gnomAD rs778579333, REVEL 0.14, ESM-1b 0.00
- P3S (p.Pro3Ser), ExAC rs747780884, TOPMed rs747780884, gnomAD rs747780884, REVEL 0.18, ESM-1b 0.00
- D4A (p.Asp4Ala), rs370458957, ClinGen CA9316861, cosmic curated COSV99721, ClinVar RCV001122041, REVEL 0.18, ESM-1b 0.00, Conflicting interpretations, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multiple epiphyseal
- D4Y (p.Asp4Tyr), gnomAD rs1262053428, REVEL 0.14, ESM-1b 0.00
- C7Y (p.Cys7Tyr), ExAC rs753831272, TOPMed rs753831272, gnomAD rs753831272, REVEL 0.20, ESM-1b 0.37
- L13P (p.Leu13Pro), TOPMed rs1023584232, ESM-1b 1.00, AlphaMissense 0.22
- A14T (p.Ala14Thr), TOPMed rs1232516283, gnomAD rs1232516283, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not provided
- L16F (p.Leu16Phe), TOPMed rs1012124944, gnomAD rs1012124944, REVEL 0.24, ESM-1b 0.16
- G17A (p.Gly17Ala), Ensembl rs944149003, REVEL 0.10, ESM-1b 0.00
- G17D (p.Gly17Asp), Ensembl rs944149003, REVEL 0.16, ESM-1b 1.00
- G17S (p.Gly17Ser), ExAC rs764174833, gnomAD rs764174833, REVEL 0.17, ESM-1b 0.00
- A18E (p.Ala18Glu), TOPMed rs960486736, REVEL 0.25, ESM-1b 1.00
- S19F (p.Ser19Phe), TOPMed rs999536283, REVEL 0.11, ESM-1b 0.00
- G20R (p.Gly20Arg), rs765574677, ClinGen CA9316853, ClinVar RCV001899562, ExAC rs765574677, REVEL 0.31, ESM-1b 1.00, Uncertain significance, not provided
- Q21E (p.Gln21Glu), TOPMed rs2055211162, ESM-1b 0.00, AlphaMissense 0.08
- G22A (p.Gly22Ala), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- G22D (p.Gly22Asp), TOPMed rs1445255027, REVEL 0.33, ESM-1b 0.00
- Q23* (p.Gln23Ter), gnomAD rs1461289752, CADD 36.00
- S24C (p.Ser24Cys), Ensembl rs2055211059, ESM-1b 0.00, AlphaMissense 0.11
- S24N (p.Ser24Asn), rs759953553, ClinGen CA9316852, ClinVar RCV002597356, ExAC rs759953553, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- S24R (p.Ser24Arg), ExAC rs777322430, TOPMed rs777322430, gnomAD rs777322430, REVEL 0.22, ESM-1b 0.00
- G31R (p.Gly31Arg), gnomAD rs1373030880, REVEL 0.05, ESM-1b 1.00
- P32Q (p.Pro32Gln), ExAC rs754279636, TOPMed rs754279636, gnomAD rs754279636, REVEL 0.12, ESM-1b 0.00
- P32R (p.Pro32Arg), ExAC rs754279636, TOPMed rs754279636, gnomAD rs754279636, REVEL 0.18, ESM-1b 0.28
- P32S (p.Pro32Ser), TOPMed rs2055208845, gnomAD rs2055208845, REVEL 0.07, ESM-1b 0.00
- Q33* (p.Gln33Ter), gnomAD rs1179362560, CADD 36.00
- M34V (p.Met34Val), gnomAD rs1257997392, ESM-1b 0.00, AlphaMissense 0.13
- R36L (p.Arg36Leu), cosmic curated COSV55873, TOPMed rs868740110, gnomAD rs868740110, REVEL 0.04, ESM-1b 0.00
- R36Q (p.Arg36Gln), cosmic curated COSV55875, TOPMed rs868740110, gnomAD rs868740110, REVEL 0.05, ESM-1b 0.00
- R36W (p.Arg36Trp), TOPMed rs1211798835, gnomAD rs1211798835, REVEL 0.15, ESM-1b 1.00
- E37D (p.Glu37Asp), gnomAD rs2055208661, REVEL 0.06, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- Q39* (p.Gln39Ter), gnomAD rs866594232, CADD 35.00
- Q39L (p.Gln39Leu), ESP rs369162037, ExAC rs369162037, TOPMed rs369162037, gnomAD rs369162037, REVEL 0.09, ESM-1b 1.00
- E40K (p.Glu40Lys), ExAC rs773766773, TOPMed rs773766773, gnomAD rs773766773, REVEL 0.15, ESM-1b 1.00
- N42K (p.Asn42Lys), ExAC rs761363648, gnomAD rs761363648, REVEL 0.10, ESM-1b 1.00
- N42S (p.Asn42Ser), Ensembl rs2055208507, ESM-1b 1.00, AlphaMissense 0.11
- A43E (p.Ala43Glu), gnomAD rs1353242672, REVEL 0.05, ESM-1b 1.00
- A43S (p.Ala43Ser), Ensembl rs868510638, REVEL 0.09, ESM-1b 1.00
- A44V (p.Ala44Val), gnomAD rs1400824348, REVEL 0.05, ESM-1b 0.00
- Q46* (p.Gln46Ter), ESP rs374010493, ExAC rs374010493, TOPMed rs374010493, gnomAD rs374010493, CADD 37.00
- V48L (p.Val48Leu), rs1418225765, ClinGen CA404899744, ClinVar RCV003117915, TOPMed rs1418225765, REVEL 0.15, ESM-1b 0.41, Uncertain significance, not provided
- V48M (p.Val48Met), rs1418225765, ClinGen CA404899748, cosmic curated COSV10959, ClinVar RCV003838831, REVEL 0.12, ESM-1b 0.82, Uncertain significance, not provided
- R49G (p.Arg49Gly), Ensembl rs1601060828, REVEL 0.23, ESM-1b 1.00
- E50D (p.Glu50Asp), UniProt VAR 016254, REVEL 0.05, ESM-1b 0.00
- E50G (p.Glu50Gly), Ensembl rs2055208186, REVEL 0.08, ESM-1b 1.00
- E50K (p.Glu50Lys), gnomAD rs1476300753, REVEL 0.07, ESM-1b 1.00
- L51M (p.Leu51Met), gnomAD rs2055208145, REVEL 0.10, ESM-1b 1.00, Uncertain significance, not provided
- L51V (p.Leu51Val), gnomAD rs2055208145, REVEL 0.07, ESM-1b 1.00
- L51W (p.Leu51Trp), UniProt VAR 016255, ESM-1b 1.00, AlphaMissense 0.50
- L52P (p.Leu52Pro), Ensembl rs896909733, REVEL 0.15, ESM-1b 1.00
- R53W (p.Arg53Trp), TOPMed rs866529712, gnomAD rs866529712, REVEL 0.17, ESM-1b 1.00
- Q54E (p.Gln54Glu), TOPMed rs1429837995, REVEL 0.08, ESM-1b 1.00
- V56A (p.Val56Ala), rs1022567248, ClinGen CA306260805, ClinVar RCV002031481, TOPMed rs1022567248, REVEL 0.12, ESM-1b 1.00, Uncertain significance, not provided
- T60S (p.Thr60Ser), ExAC rs762658260, gnomAD rs762658260, REVEL 0.08, ESM-1b 0.00
- N64K (p.Asn64Lys), gnomAD rs1438651325, ESM-1b 1.00, AlphaMissense 0.68, Likely benign
- T65S (p.Thr65Ser), gnomAD rs1349031878, REVEL 0.06, ESM-1b 1.00
- V66E (p.Val66Glu), rs2055205599, ClinGen CA404899318, ClinVar RCV001289466, UniProt VAR 085230, ESM-1b 1.00, AlphaMissense 0.96, Pathogenic, Carpal tunnel syndrome 2
- M67I (p.Met67Ile), rs199553971, 1000Genomes rs199553971, ESP rs199553971, ExAC rs199553971, REVEL 0.14, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided
- M67V (p.Met67Val), ESP rs142742836, ExAC rs142742836, TOPMed rs142742836, gnomAD rs142742836, REVEL 0.17, ESM-1b 1.00
- C69Y (p.Cys69Tyr), TOPMed rs2055205510, ESM-1b 1.00, AlphaMissense 0.99
- D70G (p.Asp70Gly), TOPMed rs1166200616, gnomAD rs1166200616, REVEL 0.17, ESM-1b 1.00
- D70N (p.Asp70Asn), Ensembl rs2055205486, ESM-1b 1.00, AlphaMissense 0.15
- D70V (p.Asp70Val), TOPMed rs1166200616, gnomAD rs1166200616, ESM-1b 1.00, AlphaMissense 0.45
- G73T (p.Gly73Thr), NCI-TCGA Cosmic COSV5587, cosmic curated COSV55874, Variant assessed as somatic; moderate impact.
- G73E (p.Gly73Glu), cosmic curated COSV10807, gnomAD rs1464641824, REVEL 0.35, ESM-1b 1.00
- G73R (p.Gly73Arg), ExAC rs746866867, TOPMed rs746866867, gnomAD rs746866867, cosmic curated COSV55875, REVEL 0.46, ESM-1b 0.84
- G73W (p.Gly73Trp), ExAC rs746866867, TOPMed rs746866867, gnomAD rs746866867, ESM-1b 1.00, AlphaMissense 0.72
- M74R (p.Met74Arg), gnomAD rs2055201399, REVEL 0.37, ESM-1b 0.95
- M74V (p.Met74Val), TOPMed rs1392053295, gnomAD rs1392053295, REVEL 0.10, ESM-1b 0.00
- Q75* (p.Gln75Ter), ExAC rs747012627, gnomAD rs747012627, CADD 39.00
- Q75H (p.Gln75His), ExAC rs773271062, gnomAD rs773271062, REVEL 0.05, ESM-1b 0.42
- Q76H (p.Gln76His), rs2055201328, ClinGen CA404898948, ClinVar RCV001935812, Ensembl rs2055201328, REVEL 0.02, ESM-1b 0.00, Uncertain significance, not provided
- Q76R (p.Gln76Arg), TOPMed rs2055201345, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R79C (p.Arg79Cys), ExAC rs768907479, TOPMed rs768907479, gnomAD rs768907479, REVEL 0.07, ESM-1b 1.00, Uncertain significance
- R79H (p.Arg79His), 1000Genomes rs578030956, ExAC rs578030956, TOPMed rs578030956, gnomAD rs578030956, REVEL 0.01, ESM-1b 0.00
- R79L (p.Arg79Leu), 1000Genomes rs578030956, ExAC rs578030956, TOPMed rs578030956, gnomAD rs578030956, REVEL 0.02, ESM-1b 0.00, Likely benign, not provided
- R79S (p.Arg79Ser), rs768907479, ClinGen CA9316782, ClinVar RCV001124709, ClinVar RCV001124710, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided; Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondy
- T80A (p.Thr80Ala), rs2512854508, ClinGen CA404898901, ClinVar RCV003544877, REVEL 0.11, ESM-1b 0.00, Uncertain significance, not provided
- G81R (p.Gly81Arg), gnomAD rs1475322123, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not provided
- P83T (p.Pro83Thr), ExAC rs780242314, gnomAD rs780242314, REVEL 0.14, ESM-1b 0.00
- S84R (p.Ser84Arg), TOPMed rs2055201141, REVEL 0.22, ESM-1b 0.00
- V85M (p.Val85Met), 1000Genomes rs558270243, gnomAD rs558270243, REVEL 0.15, ESM-1b 0.11
- R86L (p.Arg86Leu), 1000Genomes rs538226042, ExAC rs538226042, gnomAD rs538226042, REVEL 0.27, ESM-1b 0.00, Uncertain significance, not specified; not provided
- R86Q (p.Arg86Gln), rs538226042, ClinGen CA404898797, ClinVar RCV003690399, REVEL 0.15, ESM-1b 0.00, Uncertain significance, not provided
- R86W (p.Arg86Trp), TOPMed rs963661241, REVEL 0.52, ESM-1b 1.00
- P87H (p.Pro87His), TOPMed rs1315130781, gnomAD rs1315130781, REVEL 0.38, ESM-1b 1.00
- P87L (p.Pro87Leu), TOPMed rs1315130781, gnomAD rs1315130781, REVEL 0.37, ESM-1b 0.93
- P87T (p.Pro87Thr), gnomAD rs1323242949, REVEL 0.30, ESM-1b 0.08, Uncertain significance, not provided
- H90D (p.His90Asp), rs757546301, ClinGen CA306260535, ClinVar RCV002712505, ExAC rs757546301, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- H90Y (p.His90Tyr), ExAC rs757546301, TOPMed rs757546301, gnomAD rs757546301, REVEL 0.13, ESM-1b 1.00, Uncertain significance
- A92S (p.Ala92Ser), TOPMed rs2055200945, REVEL 0.14, ESM-1b 0.00
- A92V (p.Ala92Val), ExAC rs752108052, gnomAD rs752108052, REVEL 0.23, ESM-1b 0.00
- P93L (p.Pro93Leu), TOPMed rs2055200895, REVEL 0.53, ESM-1b 0.98
- G94A (p.Gly94Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G94D (p.Gly94Asp), gnomAD rs1378449590, REVEL 0.02, ESM-1b 1.00
- G94R (p.Gly94Arg), Ensembl rs1568557134, ESM-1b 1.00, AlphaMissense 0.17
- C96R (p.Cys96Arg), gnomAD rs1289527617, REVEL 0.60, ESM-1b 1.00
- F97L (p.Phe97Leu), rs1250618424, ClinGen CA404898632, ClinVar RCV002820437, TOPMed rs1250618424, REVEL 0.14, ESM-1b 1.00, Uncertain significance, not provided
- P98R (p.Pro98Arg), Ensembl rs2055200722, REVEL 0.11, ESM-1b 0.62
- P98S (p.Pro98Ser), TOPMed rs905315224, gnomAD rs905315224, REVEL 0.10, ESM-1b 0.00
- G99R (p.Gly99Arg), TOPMed rs2055200682, gnomAD rs2055200682, REVEL 0.32, ESM-1b 1.00
- V100E (p.Val100Glu), ExAC rs764598641, REVEL 0.24, ESM-1b 1.00
- V100M (p.Val100Met), cosmic curated COSV55873, gnomAD rs1462257769, REVEL 0.27, ESM-1b 1.00
- A101T (p.Ala101Thr), gnomAD rs1420502974, REVEL 0.04, ESM-1b 0.00
- A101V (p.Ala101Val), NCI-TCGA TCGA novel, Ensembl rs2055200573, REVEL 0.02, ESM-1b 0.28, Variant assessed as somatic; moderate impact.
- I103V (p.Ile103Val), rs2055200537, ClinGen CA404898554, ClinVar RCV001300334, Ensembl rs2055200537, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, not provided
- Q104* (p.Gln104Ter), gnomAD rs1419610570
- Q104H (p.Gln104His), ExAC rs753431683, gnomAD rs753431683, REVEL 0.20, ESM-1b 0.48
- T105A (p.Thr105Ala), gnomAD rs1463474729, REVEL 0.25, ESM-1b 0.21
- T105K (p.Thr105Lys), rs1377001812, ClinGen CA404898528, cosmic curated COSV10807, ClinVar RCV001123644, REVEL 0.28, ESM-1b 1.00, Uncertain significance, Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal d
- T105M (p.Thr105Met), rs1377001812, ClinGen CA404898525, ClinVar RCV001809006, TOPMed rs1377001812, ESM-1b 1.00, AlphaMissense 0.12, Uncertain significance, Multiple epiphyseal dysplasia type 1
- E106Q (p.Glu106Gln), TOPMed rs2055200390, REVEL 0.02, ESM-1b 0.00
- S107N (p.Ser107Asn), rs1214275425, ClinGen CA404898503, ClinVar RCV001340935, gnomAD rs1214275425, ESM-1b 0.62, AlphaMissense 0.07, Uncertain significance, not provided
- G108C (p.Gly108Cys), TOPMed rs1469607897, gnomAD rs1469607897, REVEL 0.61, ESM-1b 1.00
- G108S (p.Gly108Ser), TOPMed rs1469607897, gnomAD rs1469607897, REVEL 0.47, ESM-1b 1.00
- A109G (p.Ala109Gly), UniProt VAR 016257, ESM-1b 0.07, AlphaMissense 0.11
- R110C (p.Arg110Cys), gnomAD rs1242795037, REVEL 0.14, ESM-1b 1.00
- R110L (p.Arg110Leu), TOPMed rs2055200244, REVEL 0.07, ESM-1b 1.00
- R110P (p.Arg110Pro), TOPMed rs2055200244, ESM-1b 1.00, AlphaMissense 0.38
- C111* (p.Cys111Ter), cosmic curated COSV55873, TOPMed rs1296369588, gnomAD rs1296369588, CADD 34.00
- G112R (p.Gly112Arg), gnomAD rs1216452966, ESM-1b 1.00, AlphaMissense 0.47
- P113A (p.Pro113Ala), TOPMed rs1310810120, gnomAD rs1310810120, REVEL 0.08, ESM-1b 0.00
- C114S (p.Cys114Ser), rs2512854292, ClinGen CA404898413, ClinVar RCV004437769, REVEL 0.97, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- P115R (p.Pro115Arg), ExAC rs761783627, TOPMed rs761783627, gnomAD rs761783627, REVEL 0.50, ESM-1b 1.00
- P115S (p.Pro115Ser), Ensembl rs1167307094, REVEL 0.41, ESM-1b 1.00
- A116E (p.Ala116Glu), TOPMed rs1457861295, gnomAD rs1457861295, REVEL 0.04, ESM-1b 0.00
- A116T (p.Ala116Thr), NCI-TCGA Cosmic COSV5587, cosmic curated COSV55875, gnomAD rs2055200068, REVEL 0.03, ESM-1b 0.09, Variant assessed as somatic; moderate impact.
- A116V (p.Ala116Val), TOPMed rs1457861295, gnomAD rs1457861295, ESM-1b 0.00, AlphaMissense 0.08
- G117S (p.Gly117Ser), gnomAD rs1397057797, REVEL 0.87, ESM-1b 1.00
- T119K (p.Thr119Lys), TOPMed rs1292218782, gnomAD rs1292218782, REVEL 0.09, ESM-1b 1.00, Uncertain significance
- T119M (p.Thr119Met), rs1292218782, ClinGen CA404898345, ClinVar RCV002608812, TOPMed rs1292218782, REVEL 0.08, ESM-1b 1.00, Uncertain significance, not provided
- G120C (p.Gly120Cys), rs2145904819, ClinGen CA404898339, ClinVar RCV001880401, Ensembl rs2145904819, REVEL 0.73, ESM-1b 1.00, Uncertain significance, not provided
- N121K (p.Asn121Lys), ESP rs372321928, ExAC rs372321928, TOPMed rs372321928, gnomAD rs372321928, REVEL 0.19, ESM-1b 1.00
- G122C (p.Gly122Cys), Ensembl rs2055199842, REVEL 0.69, ESM-1b 1.00, Uncertain significance, not provided
- C125* (p.Cys125Ter), gnomAD rs1194117558, CADD 38.00
- C125G (p.Cys125Gly), ExAC rs747401384, gnomAD rs747401384, ESM-1b 1.00, AlphaMissense 0.98
- C125Y (p.Cys125Tyr), rs2512854226, ClinGen CA404898244, ClinVar RCV003669889, REVEL 0.78, ESM-1b 1.00, Uncertain significance, not provided
- T126I (p.Thr126Ile), rs886054305, ClinGen CA10642490, ClinVar RCV000290716, ClinVar RCV000385033, REVEL 0.03, ESM-1b 0.00, Uncertain significance, not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multi
- T126N (p.Thr126Asn), TOPMed rs886054305, gnomAD rs886054305, REVEL 0.04, ESM-1b 1.00, Uncertain significance
- D127V (p.Asp127Val), TOPMed rs1209079062, gnomAD rs1209079062, REVEL 0.96, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- V128I (p.Val128Ile), rs143954978, ClinGen CA9316756, ClinVar RCV002154868, ClinVar RCV002276997, REVEL 0.20, ESM-1b 0.00, Conflicting interpretations, Connective tissue disorder; not provided
- N129K (p.Asn129Lys), ExAC rs758922573, gnomAD rs758922573, REVEL 0.68, ESM-1b 1.00
- E130G (p.Glu130Gly), Ensembl rs935186880, ESM-1b 1.00, AlphaMissense 0.96
- N132K (p.Asn132Lys), rs200638121, 1000Genomes rs200638121, ESP rs200638121, ExAC rs200638121, REVEL 0.05, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- H134P (p.His134Pro), Ensembl rs1601058751, REVEL 0.12, ESM-1b 1.00
- H134Y (p.His134Tyr), Ensembl rs2055193156, REVEL 0.04, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- P135L (p.Pro135Leu), TOPMed rs2055193100, REVEL 0.56, ESM-1b 1.00
- P135S (p.Pro135Ser), rs2512853331, ClinGen CA404896712, ClinVar RCV003827772, REVEL 0.57, ESM-1b 1.00, Uncertain significance, not provided
- C136S (p.Cys136Ser), Ensembl rs2145904163, ESM-1b 1.00, AlphaMissense 1.00
- F137S (p.Phe137Ser), rs757094319, ClinGen CA9316729, ClinVar RCV000275499, ClinVar RCV000330560, REVEL 0.13, ESM-1b 1.00, Benign/Likely benign, not specified; not provided; Connective tissue disorder
- F137V (p.Phe137Val), gnomAD rs1444151131, REVEL 0.09, ESM-1b 1.00
- P138A (p.Pro138Ala), rs763966726, ClinGen CA9316727, ClinVar RCV002092174, ExAC rs763966726, REVEL 0.15, ESM-1b 1.00, Conflicting interpretations, not provided
- P138S (p.Pro138Ser), rs763966726, ClinGen CA404896643, cosmic curated COSV10502, ClinVar RCV004437770, REVEL 0.15, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- P138T (p.Pro138Thr), ExAC rs763966726, TOPMed rs763966726, gnomAD rs763966726, ESM-1b 1.00, AlphaMissense 0.16, Uncertain significance
- R141L (p.Arg141Leu), ExAC rs762894659, TOPMed rs762894659, gnomAD rs762894659, REVEL 0.47, ESM-1b 0.07
- I143T (p.Ile143Thr), TOPMed rs2055192913, ESM-1b 0.39, AlphaMissense 0.22
- I143V (p.Ile143Val), ExAC rs776583689, TOPMed rs776583689, gnomAD rs776583689, REVEL 0.13, ESM-1b 0.00
- S146N (p.Ser146Asn), rs1311065591, ClinGen CA404896506, ClinVar RCV001001200, TOPMed rs1311065591, ESM-1b 0.00, AlphaMissense 0.12, Likely benign, not specified
- S146T (p.Ser146Thr), TOPMed rs1311065591, gnomAD rs1311065591, REVEL 0.02, ESM-1b 0.00, Likely benign
- P147L (p.Pro147Leu), rs778825368, ClinGen CA306258911, ClinVar RCV002842083, ClinVar RCV004973659, REVEL 0.78, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided
- P147Q (p.Pro147Gln), cosmic curated COSV55876, TOPMed rs778825368, gnomAD rs778825368, REVEL 0.75, ESM-1b 1.00, Uncertain significance
- P147S (p.Pro147Ser), cosmic curated COSV10454, ExAC rs766383824, TOPMed rs766383824, REVEL 0.64, ESM-1b 1.00
- P147T (p.Pro147Thr), ExAC rs766383824, TOPMed rs766383824, REVEL 0.68, ESM-1b 1.00
- G148V (p.Gly148Val), gnomAD rs1338125544, REVEL 0.92, ESM-1b 1.00
- F149L (p.Phe149Leu), TOPMed rs767728967, REVEL 0.96, ESM-1b 1.00
- C151* (p.Cys151Ter), rs201389713, NCI-TCGA Cosmic COSV9972, cosmic curated COSV99721, 1000Genomes rs201389713, CADD 36.00, Variant assessed as somatic; high impact.
- C151Y (p.Cys151Tyr), rs2055192723, ClinGen CA404896433, cosmic curated COSV55876, ClinVar RCV003145856, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, not provided
- E152* (p.Glu152Ter), ExAC rs748432425, gnomAD rs748432425, CADD 41.00
- E152D (p.Glu152Asp), Ensembl rs1009005581, REVEL 0.06, ESM-1b 1.00
- E152G (p.Glu152Gly), ExAC rs774739958, TOPMed rs774739958, gnomAD rs774739958, REVEL 0.09, ESM-1b 1.00
- A153D (p.Ala153Asp), TOPMed rs1186692857, ESM-1b 1.00, AlphaMissense 0.09
- A153S (p.Ala153Ser), ExAC rs769066350, gnomAD rs769066350, REVEL 0.01, ESM-1b 0.99
- P155Q (p.Pro155Gln), ExAC rs749746495, TOPMed rs749746495, gnomAD rs749746495, REVEL 0.75, ESM-1b 1.00
- P155S (p.Pro155Ser), Ensembl rs2055192540, REVEL 0.63, ESM-1b 1.00
- Y158* (p.Tyr158Ter), TOPMed rs907181708, gnomAD rs907181708, CADD 39.00, Likely benign
- Y158D (p.Tyr158Asp), Ensembl rs1601058604, REVEL 0.78, ESM-1b 1.00
Public COMP analysis runs
- COMP analysis run — COMP (1,302 variants) — completed 2026-10-09