F5 (Coagulation factor V) variants and mutations
F5 (also known as Coagulation factor V) is a human protein-coding gene encoding a coagulation factor V protein. After activation, it serves as an essential cofactor for factor Xa in the prothrombinase complex and greatly accelerates thrombin generation. Deficiency can cause bleeding, whereas factor V Leiden produces activated-protein-C resistance and substantially increases venous-thrombosis risk. This analysis covers 2,967 F5 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes thrombophilia due to activated protein C resistance, congenital factor V deficiency, and factor V deficiency. Example F5 variants include F2L, G4A, and G4S.
Variant analysis overview
- Gene: F5
- Protein: Coagulation factor V
- UniProt accession: P12259
- Organism: Homo sapiens
- Variants analyzed: 2967
- Variant scope: all variants
- Completed: 2026-08-09
Variant and mutation evidence
- Variant composition: 2,721 unspecified-consequence records; 100 synonymous variants; 120 missense variants; 11 stop-gained variants; 12 frameshift variants; 1 in-frame deletions; 1 splice-region variants; 1 substitution
- Prediction scores: 2,548 variants have prediction scores (86% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: thrombophilia due to activated protein C resistance, congenital factor V deficiency, factor V deficiency, ischemic stroke, Venous thrombosis, venous thromboembolism, pulmonary embolism, deep vein thrombosis, Sepsis, Thromboembolism, phlebitis, Thrombophlebitis.
Protein structure and variant hotspots
- Protein features: 11 domains; 4 binding sites; 36 post-translational modification sites.
- Structural context: 1,667 variants have structural context.
- PTM context: 39 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 F5 variants
Examples include F2L, G4A, G4S, C5G, R7C, R7H, L8F, W9R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- F2L (p.Phe2Leu), TOPMed rs1170891368, gnomAD rs1170891368, REVEL 0.14, CADD 1.67
- G4A (p.Gly4Ala), gnomAD rs1162228986, REVEL 0.21, CADD 5.72
- G4S (p.Gly4Ser), TOPMed rs1661104919, gnomAD rs1661104919, REVEL 0.30, CADD 10.50
- C5G (p.Cys5Gly), TOPMed rs1415199023, REVEL 0.63, CADD 15.70
- R7C (p.Arg7Cys), gnomAD rs1374180175, REVEL 0.27, CADD 13.50
- R7H (p.Arg7His), TOPMed rs1661104553, REVEL 0.24, CADD 7.91
- L8F (p.Leu8Phe), rs754696079, ClinGen CA1234752, ClinVar RCV003763632, ExAC rs754696079, REVEL 0.26, CADD 11.70, Uncertain significance, Congenital factor V deficiency
- W9R (p.Trp9Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V10G (p.Val10Gly), NCI-TCGA Cosmic COSV9974, cosmic curated COSV99741, Variant assessed as somatic; moderate impact.
- L14F (p.Leu14Phe), gnomAD rs1661104201, REVEL 0.55, CADD 23.50
- G15D (p.Gly15Asp), NCI-TCGA Cosmic COSV5525, cosmic curated COSV55257, Ensembl rs2101849466, REVEL 0.60, CADD 24.80, Variant assessed as somatic; moderate impact.
- G15S (p.Gly15Ser), rs9332485, ClinGen CA1234749, ClinVar RCV000267052, ClinVar RCV000361722, REVEL 0.50, CADD 22.80, Benign/Likely benign, Thrombophilia due to thrombin defect; Congenital factor V deficiency; not specif
- T16I (p.Thr16Ile), rs1271328618, NCI-TCGA Cosmic COSV5525, cosmic curated COSV55254, TOPMed rs1271328618, REVEL 0.27, CADD 18.80, Variant assessed as somatic; moderate impact.
- T16S (p.Thr16Ser), TOPMed rs1271328618, gnomAD rs1271328618, REVEL 0.28, CADD 15.40, Uncertain significance, Inborn genetic diseases
- S17R (p.Ser17Arg), ExAC rs750456914, gnomAD rs750456914, REVEL 0.38, CADD 22.50
- W18S (p.Trp18Ser), Ensembl rs1571608499
- V19I (p.Val19Ile), Ensembl rs2101849451, REVEL 0.25, CADD 22.10
- W21C (p.Trp21Cys), gnomAD rs1251829276, REVEL 0.55, CADD 25.00
- W21R (p.Trp21Arg), rs2526504427, ClinGen CA343146279, ClinVar RCV003219049, Uncertain significance, not provided
- W21S (p.Trp21Ser), Ensembl rs1557937411, REVEL 0.40, CADD 19.50
- S23A (p.Ser23Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S23G (p.Ser23Gly), Ensembl rs1571608483
- S23R (p.Ser23Arg), Ensembl rs1571608482
- Q24E (p.Gln24Glu), TOPMed rs1226333949, gnomAD rs1226333949, REVEL 0.17, CADD 5.55
- G25A (p.Gly25Ala), TOPMed rs1365830144, gnomAD rs1365830144, REVEL 0.20, AlphaMissense 0.99
- T26A (p.Thr26Ala), Ensembl rs1571608469
- A28G (p.Ala28Gly), ExAC rs753979908, TOPMed rs753979908, gnomAD rs753979908, REVEL 0.44, CADD 23.60
- A28T (p.Ala28Thr), 1000Genomes rs571083332, ExAC rs571083332, gnomAD rs571083332, REVEL 0.54, AlphaMissense 0.82
- L31Q (p.Leu31Gln), ExAC rs775940298
- L31V (p.Leu31Val), TOPMed rs1219409853, gnomAD rs1219409853, REVEL 0.32, CADD 9.05
- Q33H (p.Gln33His), gnomAD rs1167851705, REVEL 0.32, CADD 13.30
- Q33P (p.Gln33Pro), ExAC rs767946672, TOPMed rs767946672, gnomAD rs767946672, REVEL 0.73, AlphaMissense 0.22
- F34L (p.Phe34Leu), Ensembl rs1661102544, REVEL 0.76, CADD 24.50
- Y35H (p.Tyr35His), Ensembl rs919810590, REVEL 0.91, CADD 25.20
- V36L (p.Val36Leu), 1000Genomes rs147487854, ESP rs147487854, ExAC rs147487854, TOPMed rs147487854, Likely benign
- V36M (p.Val36Met), rs147487854, ClinGen CA1234738, ClinVar RCV002409128, ClinVar RCV003596638, REVEL 0.67, AlphaMissense 0.38, Conflicting interpretations, Inborn genetic diseases; Congenital factor V deficiency
- A37P (p.Ala37Pro), TOPMed rs1249107594, gnomAD rs1249107594, REVEL 0.84, CADD 24.40, Uncertain significance, Inborn genetic diseases
- A38S (p.Ala38Ser), rs184663825, ClinGen CA1234736, ClinVar RCV003763625, 1000Genomes rs184663825, REVEL 0.70, CADD 24.50, Likely benign, Congenital factor V deficiency
- A38T (p.Ala38Thr), rs184663825, ClinGen CA32418078, ClinVar RCV003989414, ClinVar RCV005637102, REVEL 0.73, CADD 25.20, Uncertain significance, not provided; Thrombophilia due to activated protein C resistance
- G40D (p.Gly40Asp), Ensembl rs1661102010
- I41V (p.Ile41Val), TOPMed rs1661101880, gnomAD rs1661101880, REVEL 0.30, CADD 9.33
- S42I (p.Ser42Ile), ExAC rs768376936, TOPMed rs768376936, gnomAD rs768376936, REVEL 0.34, CADD 8.38, Uncertain significance, not provided
- S42T (p.Ser42Thr), ExAC rs768376936, TOPMed rs768376936, gnomAD rs768376936, Uncertain significance
- W43* (p.Trp43Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S44I (p.Ser44Ile), gnomAD rs1438469781, REVEL 0.41, CADD 17.70
- Y45H (p.Tyr45His), ExAC rs746723635, gnomAD rs746723635, REVEL 0.84, CADD 26.30
- R46G (p.Arg46Gly), rs140598745, ClinGen CA1234733, ClinVar RCV002383666, ClinVar RCV003597437, REVEL 0.37, CADD 23.10, Conflicting interpretations, Congenital factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1
- R46Q (p.Arg46Gln), rs929730407, ClinGen CA32418063, ClinVar RCV003265776, TOPMed rs929730407, REVEL 0.38, CADD 13.30, Uncertain significance, Inborn genetic diseases
- E48Q (p.Glu48Gln), TOPMed rs1234787236, gnomAD rs1234787236, REVEL 0.32, CADD 14.90, Uncertain significance, Inborn genetic diseases; Congenital factor V deficiency
- T50I (p.Thr50Ile), rs1404625718, ClinGen CA343145970, ClinVar RCV003763572, TOPMed rs1404625718, REVEL 0.22, CADD 14.30, Uncertain significance, Congenital factor V deficiency
- T50R (p.Thr50Arg), TOPMed rs1404625718, gnomAD rs1404625718, Uncertain significance
- S52* (p.Ser52Ter), rs779040384, ClinGen CA1234730, ClinVar RCV003763615, ExAC rs779040384, CADD 33.00, Pathogenic
- S53G (p.Ser53Gly), gnomAD rs1335831778, REVEL 0.40, CADD 31.00
- S53N (p.Ser53Asn), Ensembl rs1571608340
- L54* (p.Leu54Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N55D (p.Asn55Asp), ExAC rs756206405, TOPMed rs756206405, gnomAD rs756206405, REVEL 0.31, CADD 16.80, Uncertain significance, Congenital factor V deficiency
- N55K (p.Asn55Lys), cosmic curated COSV10745, ExAC rs781434840, TOPMed rs781434840, gnomAD rs781434840, Likely benign
- L56I (p.Leu56Ile), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63120, REVEL 0.14, CADD 3.84, Variant assessed as somatic; moderate impact.
- V58E (p.Val58Glu), gnomAD rs1474875308, REVEL 0.26, CADD 3.39
- T59P (p.Thr59Pro), Ensembl rs267598158
- F61C (p.Phe61Cys), gnomAD rs1235501026
- K62R (p.Lys62Arg), ExAC rs755295118, gnomAD rs755295118, REVEL 0.70, CADD 33.00
- K63E (p.Lys63Glu), TOPMed rs1278612166, gnomAD rs1278612166, REVEL 0.91, CADD 26.70
- Y69C (p.Tyr69Cys), Ensembl rs2101847043, REVEL 0.84, CADD 26.80
- P71L (p.Pro71Leu), Ensembl rs2101847038, REVEL 0.43, CADD 22.40
- P71T (p.Pro71Thr), rs751942054, ClinGen CA1234701, ClinVar RCV002684283, ExAC rs751942054, REVEL 0.40, CADD 11.30, Uncertain significance, Inborn genetic diseases
- F73Y (p.Phe73Tyr), gnomAD rs1336297692, REVEL 0.76, CADD 25.80
- K75N (p.Lys75Asn), NCI-TCGA TCGA novel, Ensembl rs2101847027, Variant assessed as somatic; high impact.
- E76G (p.Glu76Gly), Ensembl rs2101847023, REVEL 0.75, CADD 26.70
- K77R (p.Lys77Arg), 1000Genomes rs2101847020, REVEL 0.66, CADD 25.70
- P78L (p.Pro78Leu), TOPMed rs751483774, REVEL 0.55, CADD 23.30
- P78S (p.Pro78Ser), TOPMed rs1257200126, gnomAD rs1257200126, REVEL 0.62, CADD 23.80
- P78T (p.Pro78Thr), TOPMed rs1257200126, gnomAD rs1257200126, REVEL 0.72, CADD 23.50
- Q79E (p.Gln79Glu), ExAC rs750955397, gnomAD rs750955397, REVEL 0.26, CADD 19.10
- Q79K (p.Gln79Lys), ExAC rs750955397, gnomAD rs750955397, REVEL 0.28, CADD 21.10
- Q79L (p.Gln79Leu), TOPMed rs1431956224, gnomAD rs1431956224
- Q79P (p.Gln79Pro), TOPMed rs1431956224, gnomAD rs1431956224
- Q79R (p.Gln79Arg), TOPMed rs1431956224, gnomAD rs1431956224, REVEL 0.33, CADD 0.08
- S80A (p.Ser80Ala), ExAC rs760150193, gnomAD rs760150193, REVEL 0.46, CADD 19.50
- S80P (p.Ser80Pro), cosmic curated COSV10890, ExAC rs760150193, gnomAD rs760150193, REVEL 0.38, CADD 15.60
- I82L (p.Ile82Leu), ESP rs377674263, ExAC rs377674263, TOPMed rs377674263, gnomAD rs377674263, REVEL 0.39, CADD 19.80, Uncertain significance
- I82M (p.Ile82Met), ExAC rs759349978, gnomAD rs759349978, REVEL 0.41, CADD 20.80
- I82V (p.Ile82Val), rs377674263, ClinGen CA1234693, ClinVar RCV003313886, ESP rs377674263, REVEL 0.38, CADD 17.90, Uncertain significance, Thrombophilia due to activated protein C resistance
- S83* (p.Ser83Ter), gnomAD rs1288829583, CADD 41.00
- S83L (p.Ser83Leu), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63126, REVEL 0.66, CADD 32.00, Variant assessed as somatic; moderate impact.
- L85F (p.Leu85Phe), cosmic curated COSV63127, gnomAD rs951287890, REVEL 0.71, CADD 27.20
- L85I (p.Leu85Ile), gnomAD rs951287890
- L85R (p.Leu85Arg), rs146656273, ClinGen CA32405805, ClinVar RCV003239471, ClinVar RCV003395733, REVEL 0.96, CADD 27.30, Uncertain significance, Inborn genetic diseases; F5-related disorder; not provided
- L86F (p.Leu86Phe), rs774205060, ClinGen CA1234670, ClinVar RCV002987218, ClinVar RCV004790450, REVEL 0.86, CADD 27.10, Uncertain significance, Inborn genetic diseases; not provided; not specified
- L86I (p.Leu86Ile), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63127, Variant assessed as somatic; moderate impact.
- P88L (p.Pro88Leu), ExAC rs762698154, gnomAD rs762698154, REVEL 0.95, CADD 29.60
- L90F (p.Leu90Phe), gnomAD rs1487220504, REVEL 0.80, CADD 23.10
- Y91H (p.Tyr91His), rs367901835, ClinGen CA1234667, cosmic curated COSV63125, ClinVar RCV003349960, REVEL 0.64, CADD 24.40, Uncertain significance, Congenital factor V deficiency; Inborn genetic diseases
- Y91N (p.Tyr91Asn), ESP rs367901835, ExAC rs367901835, TOPMed rs367901835, gnomAD rs367901835, Uncertain significance
- E93K (p.Glu93Lys), TOPMed rs1660744367
- E93V (p.Glu93Val), gnomAD rs1437813640, REVEL 0.87, AlphaMissense 0.21
- V94A (p.Val94Ala), rs751093518, ClinGen CA1234665, cosmic curated COSV10745, ClinVar RCV001098012, REVEL 0.77, CADD 25.00, Uncertain significance, Factor V deficiency; Budd-Chiari syndrome; Thrombophilia due to thrombin defect
- G95R (p.Gly95Arg), ESP rs376110672, ExAC rs376110672, TOPMed rs376110672, gnomAD rs376110672, REVEL 0.91, CADD 27.70
- D96H (p.Asp96His), rs747215273, ClinGen CA1234662, ClinVar RCV003596847, ExAC rs747215273, REVEL 0.98, AlphaMissense 0.95, Pathogenic, Congenital factor V deficiency
- I97N (p.Ile97Asn), ESP rs144675474, ExAC rs144675474, TOPMed rs144675474, gnomAD rs144675474, REVEL 0.47, CADD 16.00
- I98V (p.Ile98Val), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63129, REVEL 0.37, CADD 13.60, Variant assessed as somatic; moderate impact.
- K99E (p.Lys99Glu), TOPMed rs1298868363, gnomAD rs1298868363, REVEL 0.62, CADD 23.00, Uncertain significance
- K99N (p.Lys99Asn), ExAC rs746247537, gnomAD rs746247537, REVEL 0.39, CADD 19.30
- K99Q (p.Lys99Gln), rs1298868363, ClinGen CA343142128, ClinVar RCV003901533, TOPMed rs1298868363, REVEL 0.56, CADD 19.80, Uncertain significance, F5-related disorder
- K99T (p.Lys99Thr), ExAC rs758755816, TOPMed rs758755816, gnomAD rs758755816, REVEL 0.70, CADD 22.70
- V100A (p.Val100Ala), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Variant assessed as somatic; moderate impact.
- V100F (p.Val100Phe), gnomAD rs1305895983, REVEL 0.88, AlphaMissense 0.60
- V100I (p.Val100Ile), gnomAD rs1305895983, REVEL 0.45, AlphaMissense 0.40
- H101D (p.His101Asp), gnomAD rs1436365896, REVEL 0.81, CADD 25.90
- H101R (p.His101Arg), TOPMed rs1395239078, gnomAD rs1395239078, REVEL 0.78, CADD 23.80
- K103Q (p.Lys103Gln), ExAC rs779420274, gnomAD rs779420274, REVEL 0.81, CADD 26.10
- N104I (p.Asn104Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N104S (p.Asn104Ser), TOPMed rs1660743011, Uncertain significance, Congenital factor V deficiency
- K105N (p.Lys105Asn), ExAC rs754465637, TOPMed rs754465637, gnomAD rs754465637, REVEL 0.38, CADD 16.30, Uncertain significance, not specified
- D107H (p.Asp107His), rs6019, ClinGen CA1234655, cosmic curated COSV10745, ClinVar RCV000242383, REVEL 0.33, CADD 20.40, Benign/Likely benign, Thrombophilia due to thrombin defect; Congenital factor V deficiency; not specif
- D107N (p.Asp107Asn), cosmic curated COSV63126, 1000Genomes rs6019, ESP rs6019, ExAC rs6019, REVEL 0.27, CADD 20.20, Benign
- K108N (p.Lys108Asn), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63126, Variant assessed as somatic; moderate impact.
- K108R (p.Lys108Arg), ExAC rs754584124, TOPMed rs754584124, gnomAD rs754584124, REVEL 0.56, CADD 23.30
- P109L (p.Pro109Leu), TOPMed rs1660742321, REVEL 0.82, CADD 26.40
- P109S (p.Pro109Ser), ExAC rs545681641, TOPMed rs545681641, gnomAD rs545681641, REVEL 0.66, CADD 20.20
- P109T (p.Pro109Thr), ExAC rs545681641, TOPMed rs545681641, gnomAD rs545681641, REVEL 0.71, CADD 22.50
- L110F (p.Leu110Phe), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63124, Variant assessed as somatic; moderate impact.
- L110V (p.Leu110Val), 1000Genomes rs576928863, ExAC rs576928863, gnomAD rs576928863, REVEL 0.32, CADD 0.23
- S111N (p.Ser111Asn), Ensembl rs1571598718
- S111R (p.Ser111Arg), rs1571598716, ClinGen CA343141988, ClinVar RCV000851635, TOPMed rs1571598716, REVEL 0.95, CADD 25.60, Uncertain significance, Factor V deficiency
- I112V (p.Ile112Val), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Variant assessed as somatic; moderate impact.
- H113N (p.His113Asn), cosmic curated COSV63126, ExAC rs772893800, gnomAD rs772893800, REVEL 0.94, CADD 24.70
- H113Q (p.His113Gln), TOPMed rs1171767169
- P114S (p.Pro114Ser), cosmic curated COSV10088, ExAC rs761734890, TOPMed rs761734890, gnomAD rs761734890, REVEL 0.78, CADD 24.30
- P114T (p.Pro114Thr), ExAC rs761734890, TOPMed rs761734890, gnomAD rs761734890
- Q115R (p.Gln115Arg), 1000Genomes rs201278820, ExAC rs201278820, gnomAD rs201278820, REVEL 0.77, CADD 22.50
- G116E (p.Gly116Glu), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, REVEL 0.97, CADD 25.70, Variant assessed as somatic; moderate impact.
- I117F (p.Ile117Phe), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63121, Variant assessed as somatic; moderate impact.
- R118G (p.Arg118Gly), ExAC rs768697206, gnomAD rs768697206, REVEL 0.56, CADD 20.10
- Y119* (p.Tyr119Ter), gnomAD rs1307744577, CADD 33.00
- Y119F (p.Tyr119Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y119N (p.Tyr119Asn), TOPMed rs1318995804, gnomAD rs1318995804, REVEL 0.94, CADD 28.10
- S120G (p.Ser120Gly), rs1571598694, ClinGen CA343141901, ClinVar RCV000851645, Ensembl rs1571598694, REVEL 0.54, CADD 22.70, Uncertain significance, Factor V deficiency
- S120T (p.Ser120Thr), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63120, Variant assessed as somatic; moderate impact.
- E124D (p.Glu124Asp), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63125, Variant assessed as somatic; moderate impact.
- G125D (p.Gly125Asp), rs760694648, ClinGen CA1234628, ClinVar RCV001096270, ClinVar RCV001096272, REVEL 0.94, CADD 32.00, Uncertain significance, Budd-Chiari syndrome; Thrombophilia due to thrombin defect; Factor V deficiency
- G125V (p.Gly125Val), ExAC rs760694648, gnomAD rs760694648, REVEL 0.97, CADD 33.00, Uncertain significance
- A126S (p.Ala126Ser), ExAC rs775439917, gnomAD rs775439917, REVEL 0.53, CADD 23.20
- S127C (p.Ser127Cys), ExAC rs772263794, gnomAD rs772263794
- L129P (p.Leu129Pro), gnomAD rs1660460346, REVEL 0.27, CADD 3.69
- D130Y (p.Asp130Tyr), NCI-TCGA TCGA novel, REVEL 0.90, CADD 28.40, Variant assessed as somatic; moderate impact.
- H131Y (p.His131Tyr), TOPMed rs1208294600, gnomAD rs1208294600, REVEL 0.44, CADD 22.60
- T132I (p.Thr132Ile), Ensembl rs2101833096
- F133I (p.Phe133Ile), ExAC rs774687031, gnomAD rs774687031
- F133L (p.Phe133Leu), ESP rs373541623, ExAC rs373541623, TOPMed rs373541623, gnomAD rs373541623, REVEL 0.27, CADD 13.90, Uncertain significance, Inborn genetic diseases
- P134T (p.Pro134Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A135E (p.Ala135Glu), rs200765676, NCI-TCGA Cosmic COSV6312, 1000Genomes rs200765676, ExAC rs200765676, REVEL 0.23, CADD 0.55, Likely benign
- A135V (p.Ala135Val), rs2526445505, ClinGen CA2739275398, ClinVar RCV003763626, REVEL 0.20, CADD 0.08, Likely benign, Congenital factor V deficiency
- K137Q (p.Lys137Gln), Ensembl rs1660459436
- M138T (p.Met138Thr), rs570913507, ClinGen CA1234617, ClinVar RCV003349957, 1000Genomes rs570913507, REVEL 0.35, CADD 15.30, Uncertain significance, Inborn genetic diseases
- D139G (p.Asp139Gly), TOPMed rs1660458354
- D139V (p.Asp139Val), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63123, Variant assessed as somatic; moderate impact.
- D140E (p.Asp140Glu), rs757003471, ClinGen CA343138924, ClinVar RCV004385856, ExAC rs757003471, AlphaMissense 0.84, MetaLR 0.95, Uncertain significance, Inborn genetic diseases
- D140N (p.Asp140Asn), rs778572956, cosmic curated COSV10651, ExAC rs778572956, TOPMed rs778572956, REVEL 0.71, CADD 25.00, Variant assessed as somatic; moderate impact.
- A141S (p.Ala141Ser), ExAC rs753653415, gnomAD rs753653415
- A141T (p.Ala141Thr), ExAC rs753653415, gnomAD rs753653415, REVEL 0.46, CADD 23.00
- A141V (p.Ala141Val), 1000Genomes rs552811471, ExAC rs552811471, gnomAD rs552811471, REVEL 0.38, CADD 18.60
- V142A (p.Val142Ala), rs552620077, ClinGen CA32396414, ClinVar RCV003763614, TOPMed rs552620077, REVEL 0.72, CADD 24.30, Uncertain significance, Congenital factor V deficiency
- A143P (p.Ala143Pro), TOPMed rs1242255525, gnomAD rs1242255525, REVEL 0.37, CADD 13.90, Uncertain significance, Inborn genetic diseases
- A143T (p.Ala143Thr), TOPMed rs1242255525, gnomAD rs1242255525, REVEL 0.39, CADD 17.60, Uncertain significance, not provided
- P144A (p.Pro144Ala), ExAC rs760604679, REVEL 0.74, CADD 23.60
- G145A (p.Gly145Ala), ExAC rs752741472, TOPMed rs752741472, gnomAD rs752741472, Uncertain significance
- G145D (p.Gly145Asp), rs752741472, ClinGen CA1234609, ClinVar RCV001774315, ExAC rs752741472, REVEL 0.73, CADD 23.90, Uncertain significance, not provided
- R146* (p.Arg146Ter), rs767477438, ClinGen CA1234608, ClinVar RCV003764221, ExAC rs767477438, CADD 37.00, Pathogenic
- R146L (p.Arg146Leu), cosmic curated COSV63126, ESP rs145625079, ExAC rs145625079, TOPMed rs145625079, REVEL 0.32, CADD 15.10, Uncertain significance
- R146Q (p.Arg146Gln), rs145625079, ClinGen CA1234606, cosmic curated COSV63122, ClinVar RCV000289118, REVEL 0.31, CADD 3.95, Uncertain significance, Congenital factor V deficiency; Budd-Chiari syndrome; Thrombophilia due to activ
- E147* (p.Glu147Ter), rs118203912, ClinGen CA251548, ClinVar RCV000000679, Ensembl rs118203912, CADD 37.00, Pathogenic
- E147G (p.Glu147Gly), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63120, Variant assessed as somatic; moderate impact.
- E147K (p.Glu147Lys), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63122, Variant assessed as somatic; moderate impact.
- Y148* (p.Tyr148Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, CADD 35.00, Variant assessed as somatic; high impact.
- Y148C (p.Tyr148Cys), NCI-TCGA Cosmic COSV6312, cosmic curated COSV63124, TOPMed rs1660456465, REVEL 0.73, CADD 26.20, Variant assessed as somatic; moderate impact.
- Y148H (p.Tyr148His), ExAC rs771301602, TOPMed rs771301602, gnomAD rs771301602, REVEL 0.57, CADD 22.90
- T149I (p.Thr149Ile), rs763354263, NCI-TCGA Cosmic COSV6312, cosmic curated COSV63124, ExAC rs763354263, REVEL 0.43, CADD 18.40, Variant assessed as somatic; moderate impact.
- Y150C (p.Tyr150Cys), gnomAD rs1295008658, REVEL 0.95, AlphaMissense 0.07, Uncertain significance, not specified
- E151D (p.Glu151Asp), ESP rs369740525, ExAC rs369740525, gnomAD rs369740525, REVEL 0.38, CADD 6.75
Public F5 analysis runs
- F5 analysis run — F5 (2,967 variants) — completed 2026-08-09