C5 (Complement C5) variants and mutations
C5 (also known as Complement C5) is a human protein-coding gene encoding a complement protein. Its cleavage produces the potent inflammatory mediator C5a and C5b, which initiates assembly of the membrane-attack complex. Excessive activation contributes to several complement-mediated disorders, making C5 blockade an established therapeutic strategy. This analysis covers 1,883 C5 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes Immunodeficiency due to a late component of complements deficiency, paroxysmal nocturnal hemoglobinuria, and myasthenia gravis. Example C5 variants include M1?, G2D, and G2S.
Variant analysis overview
- Gene: C5
- Protein: Complement C5
- UniProt accession: P01031
- Organism: Homo sapiens
- Variants analyzed: 1883
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,703 unspecified-consequence records; 1 stop retained variant; 67 synonymous variants; 88 missense variants; 13 frameshift variants; 6 stop-gained variants; 2 splice-region variants; 2 substitution
- Prediction scores: 1,735 variants have prediction scores (92% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Immunodeficiency due to a late component of complements deficiency, paroxysmal nocturnal hemoglobinuria, myasthenia gravis, atypical hemolytic-uremic syndrome, neuromyelitis optica, age-related macular degeneration, hemolytic-uremic syndrome, Protein-losing enteropathy, atrophic macular degeneration, complement deficiency, thrombotic microangiopathy, hemolysis.
Protein structure and variant hotspots
- Protein features: 2 domains; 4 post-translational modification sites.
- Structural context: 324 variants have structural context.
- PTM context: 4 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, MaveDB, LitVar.
Notable C5 variants
Examples include M1?, G2D, G2S, L3V, L4F, G5E, I6L, I6R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G2D (p.Gly2Asp), ExAC rs753094340, gnomAD rs753094340, MetaLR 0.06, MetaSVM -1.04
- G2S (p.Gly2Ser), ExAC rs756642354, gnomAD rs756642354, REVEL 0.02, MetaLR 0.06
- L3V (p.Leu3Val), ExAC rs765922791, TOPMed rs765922791, gnomAD rs765922791, REVEL 0.04, MetaLR 0.06
- L4F (p.Leu4Phe), rs35352264, ClinGen CA5218510, ClinVar RCV002189563, ESP rs35352264, REVEL 0.09, MetaLR 0.06, Likely benign, not provided
- G5E (p.Gly5Glu), ExAC rs750156638, TOPMed rs750156638, gnomAD rs750156638, REVEL 0.15, MetaLR 0.07
- I6L (p.Ile6Leu), gnomAD rs1288535175, REVEL 0.07, MetaLR 0.03
- I6R (p.Ile6Arg), rs375681125, ClinGen CA5218507, ClinVar RCV004429824, ESP rs375681125, REVEL 0.23, MetaLR 0.07, Uncertain significance, not specified
- F9L (p.Phe9Leu), rs776535387, ClinGen CA5218505, ClinVar RCV003035052, ExAC rs776535387, REVEL 0.08, MetaLR 0.04, Uncertain significance, not provided
- F9V (p.Phe9Val), rs776535387, ClinGen CA5218504, ClinVar RCV001884517, ExAC rs776535387, REVEL 0.13, MetaLR 0.06, Uncertain significance, not provided
- F9Y (p.Phe9Tyr), rs763943419, ClinGen CA5218503, ClinVar RCV003873845, ClinVar RCV005537727, REVEL 0.18, MetaLR 0.09, Uncertain significance, not provided; not specified
- L10F (p.Leu10Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L10S (p.Leu10Ser), Ensembl rs1588003925, REVEL 0.28, MetaLR 0.21
- I11V (p.Ile11Val), ExAC rs760686825, TOPMed rs760686825, gnomAD rs760686825, REVEL 0.11, MetaLR 0.06
- G14R (p.Gly14Arg), Ensembl rs2131830338, REVEL 0.22, MetaLR 0.07
- K15Q (p.Lys15Gln), ESP rs138873824, TOPMed rs138873824, gnomAD rs138873824, REVEL 0.09, MetaLR 0.05
- T16S (p.Thr16Ser), gnomAD rs1434582816, REVEL 0.17, MetaLR 0.03
- G18* (p.Gly18Ter), rs2540464494, ClinGen CA374735405, ClinVar RCV003664627, Pathogenic
- Q19* (p.Gln19Ter), rs121909587, ClinGen CA127051, ClinVar RCV000018578, ClinVar RCV001390773, CADD 38.00, Pathogenic
- Q19R (p.Gln19Arg), gnomAD rs2047661225, REVEL 0.33, MetaLR 0.23
- E20A (p.Glu20Ala), ExAC rs774697015, TOPMed rs774697015, gnomAD rs774697015, REVEL 0.39, MetaLR 0.21
- Q21K (p.Gln21Lys), gnomAD rs1389350292, REVEL 0.12, MetaLR 0.06
- T22A (p.Thr22Ala), rs564964646, ClinGen CA5218498, ClinVar RCV002075549, ClinVar RCV003339917, REVEL 0.25, MetaLR 0.12, Conflicting interpretations, not provided; Complement component 5 deficiency
- T22I (p.Thr22Ile), rs142075999, ClinGen CA5218497, ClinVar RCV001336394, ClinVar RCV001865847, REVEL 0.12, MetaLR 0.09, Uncertain significance, Complement component 5 deficiency; not provided
- Y23* (p.Tyr23Ter), rs759960744, ClinGen CA5218466, ClinVar RCV001975121, ExAC rs759960744, CADD 32.00, Pathogenic
- Y23C (p.Tyr23Cys), ExAC rs113419504, TOPMed rs113419504, gnomAD rs113419504, REVEL 0.68, MetaLR 0.26
- A27P (p.Ala27Pro), TOPMed rs202155041, gnomAD rs202155041
- A27T (p.Ala27Thr), TOPMed rs202155041, gnomAD rs202155041, REVEL 0.18, MetaLR 0.13
- A27V (p.Ala27Val), TOPMed rs1311952754, gnomAD rs1311952754, REVEL 0.27, MetaLR 0.21
- K29N (p.Lys29Asn), TOPMed rs1174368669, REVEL 0.17, MetaLR 0.13
- I30T (p.Ile30Thr), NCI-TCGA Cosmic COSV5632, MetaLR 0.06, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- R32C (p.Arg32Cys), TOPMed rs972803297, gnomAD rs972803297, REVEL 0.17, MetaLR 0.19, Uncertain significance, not provided
- R32H (p.Arg32His), rs144876205, ClinGen CA5218464, ClinVar RCV001336396, ClinVar RCV001865848, REVEL 0.13, MetaLR 0.04, Uncertain significance, Complement component 5 deficiency; Eculizumab, poor response to; not provided
- R32R (p.Arg32Arg), rs994566097, []
- V33A (p.Val33Ala), rs2540461208, ClinGen CA374733222, ClinVar RCV003000012, Uncertain significance, not provided
- A35V (p.Ala35Val), gnomAD rs1351694798, REVEL 0.21, MetaLR 0.10
- S36C (p.Ser36Cys), rs2131823079, ClinGen CA374733086, ClinVar RCV001984440, Ensembl rs2131823079, AlphaMissense 0.23, MetaLR 0.13, Uncertain significance, not provided
- E37* (p.Glu37Ter), gnomAD rs2047627522, CADD 36.00
- N38Y (p.Asn38Tyr), gnomAD rs1308644755, REVEL 0.23, MetaLR 0.19
- I39T (p.Ile39Thr), rs1228951703, ClinGen CA374732968, ClinVar RCV001901488, ClinVar RCV002478331, REVEL 0.26, MetaLR 0.10, Uncertain significance, Eculizumab, poor response to; Complement component 5 deficiency; not provided
- I41V (p.Ile41Val), gnomAD rs2047627351, REVEL 0.07, MetaLR 0.02
- V43I (p.Val43Ile), TOPMed rs2047627311
- Y44S (p.Tyr44Ser), 1000Genomes rs569108023, ExAC rs569108023, gnomAD rs569108023, REVEL 0.17, MetaLR 0.06
- Y46H (p.Tyr46His), rs1235410014, ClinGen CA374732792, ClinVar RCV004303776, gnomAD rs1235410014, REVEL 0.18, MetaLR 0.07, Uncertain significance, not specified
- T47A (p.Thr47Ala), Ensembl rs2047627161, REVEL 0.13, MetaLR 0.11
- A49G (p.Ala49Gly), rs2047627115, ClinGen CA374732661, ClinVar RCV002031421, Ensembl rs2047627115, REVEL 0.03, MetaLR 0.06, Uncertain significance, not provided
- A49V (p.Ala49Val), Ensembl rs2047627115, MetaLR 0.07, MetaSVM -1.04, Uncertain significance
- F50L (p.Phe50Leu), ExAC rs763012703, TOPMed rs763012703, gnomAD rs763012703, REVEL 0.17, MetaLR 0.06
- F50S (p.Phe50Ser), rs2047627038, ClinGen CA374732639, ClinVar RCV002746554, TOPMed rs2047627038, REVEL 0.38, MetaLR 0.19, Uncertain significance, not provided
- D51E (p.Asp51Glu), TOPMed rs2047626967
- D51H (p.Asp51His), rs773479432, ExAC rs773479432, gnomAD rs773479432, REVEL 0.16, MetaLR 0.11, Variant assessed as somatic; moderate impact.
- I54L (p.Ile54Leu), gnomAD rs1378081576, REVEL 0.06, MetaLR 0.04
- S55A (p.Ser55Ala), TOPMed rs1157813308, gnomAD rs1157813308, REVEL 0.06, MetaLR 0.06
- S55F (p.Ser55Phe), gnomAD rs1423855081, REVEL 0.24, MetaLR 0.13
- I56V (p.Ile56Val), TOPMed rs1416650386, gnomAD rs1416650386, REVEL 0.05, MetaLR 0.03
- K57N (p.Lys57Asn), rs2540461123, ClinGen CA374732483, ClinVar RCV003687971, Uncertain significance, not provided
- K57R (p.Lys57Arg), NCI-TCGA TCGA novel, MetaLR 0.15, MetaSVM -0.72, Variant assessed as somatic; moderate impact.
- S58N (p.Ser58Asn), TOPMed rs1303441461, gnomAD rs1303441461, REVEL 0.18, MetaLR 0.13
- S58R (p.Ser58Arg), gnomAD rs1180648261, REVEL 0.36, MetaLR 0.16
- Y59H (p.Tyr59His), gnomAD rs1485607759, REVEL 0.19, MetaLR 0.13
- P60A (p.Pro60Ala), NCI-TCGA Cosmic COSV9979, Variant assessed as somatic; moderate impact.
- P60S (p.Pro60Ser), rs2540461116, ClinGen CA374732432, ClinVar RCV004429823, Uncertain significance, not specified
- K62T (p.Lys62Thr), NCI-TCGA TCGA novel, MetaLR 0.15, MetaSVM -0.90, Variant assessed as somatic; moderate impact.
- K63N (p.Lys63Asn), TOPMed rs2047626542, Uncertain significance, not provided
- K63T (p.Lys63Thr), NCI-TCGA Cosmic COSV9979, MetaLR 0.06, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- F64Y (p.Phe64Tyr), ExAC rs762278531, gnomAD rs762278531, REVEL 0.06, MetaLR 0.04
- S65C (p.Ser65Cys), TOPMed rs2047626375, gnomAD rs2047626375, REVEL 0.11, MetaLR 0.08
- Y66* (p.Tyr66Ter), TOPMed rs1260360024, gnomAD rs1260360024, CADD 32.00
- S68L (p.Ser68Leu), gnomAD rs1222455417, REVEL 0.21, MetaLR 0.19
- S68T (p.Ser68Thr), TOPMed rs2047626283
- G69C (p.Gly69Cys), NCI-TCGA Cosmic COSV5632, Variant assessed as somatic; moderate impact.
- G69D (p.Gly69Asp), Ensembl rs2047626210, REVEL 0.14, MetaLR 0.06
- H70P (p.His70Pro), TOPMed rs1016043380
- H70R (p.His70Arg), TOPMed rs1016043380, REVEL 0.06, MetaLR 0.06
- H70Y (p.His70Tyr), Ensembl rs2047626168
- H72N (p.His72Asn), Ensembl rs1239344218, REVEL 0.02, MetaLR 0.02
- E76D (p.Glu76Asp), Ensembl rs2047625844, MetaLR 0.09, MetaSVM -1.02
- E76G (p.Glu76Gly), rs770633215, ClinGen CA5218453, ClinVar RCV001925382, ExAC rs770633215, REVEL 0.06, MetaLR 0.06, Uncertain significance, not provided
- A83S (p.Ala83Ser), rs748797024, ClinGen CA5218451, ClinVar RCV002050836, ExAC rs748797024, REVEL 0.18, MetaLR 0.19, Uncertain significance, not provided
- I84V (p.Ile84Val), TOPMed rs1228834948, REVEL 0.05, MetaLR 0.02
- L85V (p.Leu85Val), TOPMed rs2047625603
- T86I (p.Thr86Ile), gnomAD rs1292060150, REVEL 0.11, MetaLR 0.09
- I87R (p.Ile87Arg), rs2540458621, ClinGen CA374730340, ClinVar RCV002967933, Uncertain significance, not provided
- I87V (p.Ile87Val), TOPMed rs2047596082, REVEL 0.07, MetaLR 0.07
- Q88P (p.Gln88Pro), ExAC rs772633842, TOPMed rs772633842, gnomAD rs772633842, REVEL 0.09, MetaLR 0.07
- Q88R (p.Gln88Arg), ExAC rs772633842, TOPMed rs772633842, gnomAD rs772633842, REVEL 0.18, MetaLR 0.10
- P89Q (p.Pro89Gln), gnomAD rs1464480826, REVEL 0.30, MetaLR 0.17
- P89R (p.Pro89Arg), NCI-TCGA Cosmic COSV5633, MetaLR 0.17, MetaSVM -0.85, Variant assessed as somatic; moderate impact.
- P89S (p.Pro89Ser), ExAC rs769302771, gnomAD rs769302771, REVEL 0.23, MetaLR 0.14
- K90N (p.Lys90Asn), NCI-TCGA Cosmic COSV5633, MetaLR 0.08, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- L92F (p.Leu92Phe), rs1199947642, gnomAD rs1199947642, REVEL 0.01, MetaLR 0.05, Variant assessed as somatic; moderate impact.
- P93L (p.Pro93Leu), Ensembl rs2047595809
- P93S (p.Pro93Ser), Ensembl rs866647303, MetaLR 0.11, MetaSVM -1.05
- G95R (p.Gly95Arg), gnomAD rs1435145383, REVEL 0.01, MetaLR 0.05
- G95V (p.Gly95Val), Ensembl rs2047595714, MetaLR 0.05, MetaSVM -1.04
- N97D (p.Asn97Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N97S (p.Asn97Ser), TOPMed rs1662393607, MetaLR 0.04, MetaSVM -0.97
- P98A (p.Pro98Ala), TOPMed rs1472937845, REVEL 0.04, AlphaMissense 0.06, Uncertain significance
- P98S (p.Pro98Ser), rs1472937845, ClinGen CA374730164, ClinVar RCV002740659, TOPMed rs1472937845, AlphaMissense 0.06, MetaLR 0.05, Uncertain significance, not provided
- V99I (p.Val99Ile), TOPMed rs1161496980
- S100C (p.Ser100Cys), rs1458248752, ClinGen CA374730130, ClinVar RCV002603631, TOPMed rs1458248752, REVEL 0.23, MetaLR 0.16, Uncertain significance, not provided
- Y101H (p.Tyr101His), rs1240046243, ClinGen CA374730123, ClinVar RCV001915778, TOPMed rs1240046243, REVEL 0.07, MetaLR 0.03, Uncertain significance, not provided
- E105* (p.Glu105Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E105A (p.Glu105Ala), rs754822238, ClinGen CA5218427, ClinVar RCV001966521, ClinVar RCV002479609, REVEL 0.19, MetaLR 0.12, Uncertain significance, Eculizumab, poor response to; Complement component 5 deficiency; not provided
- V106I (p.Val106Ile), ExAC rs746782741, gnomAD rs746782741, REVEL 0.06, MetaLR 0.07
- V107I (p.Val107Ile), TOPMed rs771897204
- V107L (p.Val107Leu), TOPMed rs771897204, REVEL 0.09, MetaLR 0.06
- S108* (p.Ser108Ter), Ensembl rs2047595196, CADD 36.00
- H110N (p.His110Asn), rs143947726, ClinGen CA5218424, ClinVar RCV001454646, ClinVar RCV003965898, REVEL 0.13, MetaLR 0.10, Likely benign, not provided
- S112* (p.Ser112Ter), gnomAD rs1300768445
- S112A (p.Ser112Ala), Ensembl rs2047595090, REVEL 0.03, MetaLR 0.06
- S112F (p.Ser112Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S112L (p.Ser112Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S114A (p.Ser114Ala), NCI-TCGA Cosmic COSV9979, Variant assessed as somatic; moderate impact.
- K115E (p.Lys115Glu), rs750310964, ClinGen CA5218423, ClinVar RCV002608961, ExAC rs750310964, REVEL 0.15, MetaLR 0.06, Uncertain significance, not provided
- R116K (p.Arg116Lys), Ensembl rs2131818425, MetaLR 0.07, MetaSVM -1.02
- M117I (p.Met117Ile), rs757295064, ClinGen CA5218421, ClinVar RCV004166412, ExAC rs757295064, REVEL 0.01, MetaLR 0.02, Likely benign, not specified
- M117T (p.Met117Thr), ExAC rs765246565, gnomAD rs765246565, MetaLR 0.05, MetaSVM -1.04
- M117V (p.Met117Val), TOPMed rs1202350384, gnomAD rs1202350384, REVEL 0.01, MetaLR 0.02
- I119V (p.Ile119Val), ExAC rs764365113, gnomAD rs764365113, REVEL 0.02, MetaLR 0.02
- T120I (p.Thr120Ile), rs761174155, ClinGen CA5218418, ClinVar RCV004429826, ExAC rs761174155, REVEL 0.12, MetaLR 0.06, Uncertain significance, not specified
- Y121C (p.Tyr121Cys), ExAC rs775968008, TOPMed rs775968008, gnomAD rs775968008, REVEL 0.29, MetaLR 0.19
- Y121F (p.Tyr121Phe), ExAC rs775968008, TOPMed rs775968008, gnomAD rs775968008, REVEL 0.08, MetaLR 0.08
- D122V (p.Asp122Val), rs2131818378, ClinGen CA374729705, ClinVar RCV001986570, Ensembl rs2131818378, AlphaMissense 0.15, MetaLR 0.09, Uncertain significance, not provided
- G124E (p.Gly124Glu), Ensembl rs943788279
- F125V (p.Phe125Val), TOPMed rs2047594636, gnomAD rs2047594636, REVEL 0.16, MetaLR 0.15
- L126I (p.Leu126Ile), NCI-TCGA Cosmic COSV5632, Variant assessed as somatic; moderate impact.
- F127L (p.Phe127Leu), ExAC rs767957532, TOPMed rs767957532, gnomAD rs767957532, REVEL 0.78, MetaLR 0.59
- I128V (p.Ile128Val), ExAC rs760145865, gnomAD rs760145865, REVEL 0.18, MetaLR 0.24
- H129L (p.His129Leu), rs774850483, ClinGen CA374729547, ClinVar RCV004180669, ExAC rs774850483, REVEL 0.36, MetaLR 0.24, Uncertain significance, not specified
- H129R (p.His129Arg), ExAC rs774850483, TOPMed rs774850483, gnomAD rs774850483, REVEL 0.44, MetaLR 0.28, Uncertain significance
- T130I (p.Thr130Ile), ExAC rs769250287, gnomAD rs769250287, REVEL 0.84, MetaLR 0.76
- D131E (p.Asp131Glu), TOPMed rs912694903, gnomAD rs912694903, REVEL 0.71, MetaLR 0.77
- P133S (p.Pro133Ser), gnomAD rs1249729447, REVEL 0.43, MetaLR 0.47
- V134I (p.Val134Ile), rs2047594261, ClinGen CA374729463, ClinVar RCV002617668, TOPMed rs2047594261, AlphaMissense 0.07, MetaLR 0.09, Uncertain significance, not provided
- T136N (p.Thr136Asn), rs776192715, ClinGen CA5218411, ClinVar RCV001890992, ClinVar RCV002478265, REVEL 0.33, MetaLR 0.49, Uncertain significance, Eculizumab, poor response to; Complement component 5 deficiency; not provided
- P137L (p.Pro137Leu), ExAC rs765066896, TOPMed rs765066896, gnomAD rs765066896, REVEL 0.61, MetaLR 0.84
- D138G (p.Asp138Gly), TOPMed rs916475020, gnomAD rs916475020, REVEL 0.20, MetaLR 0.14
- Q139* (p.Gln139Ter), gnomAD rs761781837
- Q139E (p.Gln139Glu), gnomAD rs761781837, REVEL 0.37, MetaLR 0.44
- V141L (p.Val141Leu), rs1053064557, ClinGen CA199354033, ClinVar RCV002601681, TOPMed rs1053064557, REVEL 0.64, MetaLR 0.77, Uncertain significance, not provided
- V143I (p.Val143Ile), 1000Genomes rs578177442, ExAC rs578177442, gnomAD rs578177442, REVEL 0.06, MetaLR 0.16
- V143L (p.Val143Leu), 1000Genomes rs578177442, ExAC rs578177442, gnomAD rs578177442, REVEL 0.14, MetaLR 0.29
- V145I (p.Val145Ile), rs17216529, ClinGen CA5218390, ClinVar RCV001515954, ClinVar RCV006457273, REVEL 0.23, MetaLR 0.00, Benign/Likely benign, not specified; not provided
- S147L (p.Ser147Leu), rs544818019, NCI-TCGA Cosmic COSV5632, 1000Genomes rs544818019, ExAC rs544818019, REVEL 0.67, MetaLR 0.60, Variant assessed as somatic; moderate impact.
- S147P (p.Ser147Pro), TOPMed rs1654274677, REVEL 0.68, MetaLR 0.55
- D151E (p.Asp151Glu), NCI-TCGA Cosmic COSV5632, NCI-TCGA Cosmic COSV9979, REVEL 0.14, MetaLR 0.10, Variant assessed as somatic; moderate impact.
- D151G (p.Asp151Gly), gnomAD rs1190615111, REVEL 0.35, MetaLR 0.38
- D151N (p.Asp151Asn), ExAC rs778767530, gnomAD rs778767530, REVEL 0.20, MetaLR 0.31
- K153T (p.Lys153Thr), gnomAD rs1289985711, REVEL 0.49, MetaLR 0.50
- P154Q (p.Pro154Gln), gnomAD rs2047542781, REVEL 0.68, MetaLR 0.66
- A155D (p.Ala155Asp), Ensembl rs2047542745, REVEL 0.51, MetaLR 0.54
- K156E (p.Lys156Glu), gnomAD rs1333422218, REVEL 0.14, MetaLR 0.23
- R157I (p.Arg157Ile), TOPMed rs2047542620, gnomAD rs2047542620, REVEL 0.61, MetaLR 0.63
- R157S (p.Arg157Ser), rs776071022, ClinGen CA199397290, ClinVar RCV002626208, Ensembl rs776071022, REVEL 0.53, MetaLR 0.46, Uncertain significance, not provided
- E158G (p.Glu158Gly), gnomAD rs1219686903, REVEL 0.28, MetaLR 0.37
- E158Q (p.Glu158Gln), gnomAD rs1273071813, REVEL 0.23, MetaLR 0.39
- T159N (p.Thr159Asn), ExAC rs778024861, gnomAD rs778024861, REVEL 0.38, MetaLR 0.46
- V160A (p.Val160Ala), ExAC rs756209447, TOPMed rs756209447, gnomAD rs756209447, REVEL 0.26, MetaLR 0.33
- V160I (p.Val160Ile), Ensembl rs866719369, REVEL 0.19, MetaLR 0.34
- I164K (p.Ile164Lys), Ensembl rs2047542288, REVEL 0.14, MetaLR 0.16
- I164M (p.Ile164Met), ExAC rs753030709, gnomAD rs753030709, REVEL 0.25, MetaLR 0.29
- P166L (p.Pro166Leu), NCI-TCGA TCGA novel, MetaLR 0.67, MetaSVM 0.28, Variant assessed as somatic; moderate impact.
- E167K (p.Glu167Lys), gnomAD rs1276801868, REVEL 0.28, MetaLR 0.36
- G168E (p.Gly168Glu), ExAC rs771692221, TOPMed rs771692221, gnomAD rs771692221, REVEL 0.61, MetaLR 0.58
- G168R (p.Gly168Arg), ExAC rs775182736, gnomAD rs775182736, REVEL 0.62, MetaLR 0.66
- S169A (p.Ser169Ala), NCI-TCGA Cosmic COSV5632, Variant assessed as somatic; moderate impact.
- S169P (p.Ser169Pro), ExAC rs759291875, gnomAD rs759291875, REVEL 0.41, MetaLR 0.36
- E170K (p.Glu170Lys), gnomAD rs1447436742, REVEL 0.14, MetaLR 0.15
- V171A (p.Val171Ala), 1000Genomes rs185695138, ExAC rs185695138, TOPMed rs185695138, gnomAD rs185695138, REVEL 0.51, MetaLR 0.72, Uncertain significance, not specified
- V171I (p.Val171Ile), ESP rs377669829, ExAC rs377669829, TOPMed rs377669829, gnomAD rs377669829, REVEL 0.18, MetaLR 0.44
- D172E (p.Asp172Glu), ESP rs375608449, ExAC rs375608449, TOPMed rs375608449, gnomAD rs375608449, REVEL 0.07, MetaLR 0.12
- M173I (p.Met173Ile), gnomAD rs1393962385, REVEL 0.11, MetaLR 0.05
- M173L (p.Met173Leu), ExAC rs770052563, TOPMed rs770052563, gnomAD rs770052563, MetaLR 0.05, MetaSVM -0.89
- M173R (p.Met173Arg), gnomAD rs1452140635, REVEL 0.14, MetaLR 0.11
- M173V (p.Met173Val), ExAC rs770052563, TOPMed rs770052563, gnomAD rs770052563, REVEL 0.06, MetaLR 0.10
- E175G (p.Glu175Gly), ExAC rs748212552, gnomAD rs748212552, REVEL 0.36, MetaLR 0.40
- E176* (p.Glu176Ter), rs1459526637, ClinGen CA374759019, ClinVar RCV003848818, gnomAD rs1459526637, CADD 36.00, Pathogenic
- I177F (p.Ile177Phe), Ensembl rs2047509942
- D178E (p.Asp178Glu), gnomAD rs1484500010, REVEL 0.23, MetaLR 0.37
Public C5 analysis runs
- C5 analysis run — C5 (1,883 variants) — completed 2026-08-19