F11 (Coagulation factor XI) variants and mutations
F11 (also known as Coagulation factor XI) is a human protein-coding gene encoding a coagulation factor XI protein. Its activated form amplifies thrombin generation through the intrinsic coagulation pathway. Deficiency causes hemophilia C with variable bleeding, while reduced factor XI activity is associated with lower thrombosis risk and is being explored as a safer anticoagulation target. This analysis covers 1,187 F11 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes neurodegenerative disease, thrombophilia, and exudative vitreoretinopathy. Example F11 variants include M1I, M1K, and Y5*.
Variant analysis overview
- Gene: F11
- Protein: Coagulation factor XI
- UniProt accession: P03951
- Organism: Homo sapiens
- Variants analyzed: 1187
- Variant scope: all variants
- Completed: 2026-10-25
Variant and mutation evidence
- Variant composition: 839 unspecified-consequence records; 2 stop lost; 108 synonymous variants; 277 missense variants; 17 stop-gained variants; 17 frameshift variants; 2 in-frame deletions; 1 in-frame insertions; 4 substitution
- Prediction scores: 1,141 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, thrombophilia, exudative vitreoretinopathy, Kallmann syndrome, exudative vitreoretinopathy 4, hypogonadotropic hypogonadism, Doyne honeycomb retinal dystrophy, dentin dysplasia, autosomal recessive osteopetrosis 6, juvenile nephropathic cystinosis, central areolar choroidal dystrophy, Leber congenital amaurosis 6.
Protein structure and variant hotspots
- Protein features: 5 domains; 1 binding sites; 5 post-translational modification sites.
- Structural context: 1,115 variants have structural context.
- PTM context: 10 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.
Diseases linked to F11
Notable F11 variants
Examples include M1I, M1K, Y5*, Y5C, Q6*, Q6H, Q6R, H9R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs755700350, ClinGen CA112146686, ClinVar RCV000595418, ClinVar RCV002497250, ESM-1b 1.00, AlphaMissense 0.39, Pathogenic/Likely pathogenic, F11-related disorder; Plasma factor XI deficiency; not provided
- M1K (p.Met1Lys), rs1554081281, ClinGen CA358957224, ClinVar RCV000668218, REVEL 0.80, ESM-1b 1.00, Likely pathogenic, Hereditary factor XI deficiency disease
- Y5* (p.Tyr5Ter), Ensembl rs1739567709
- Y5C (p.Tyr5Cys), ExAC rs749690750, gnomAD rs749690750, REVEL 0.15, ESM-1b 0.00
- Q6* (p.Gln6Ter), rs1554081288, ClinGen CA358957294, ClinVar RCV000666100, ClinVar RCV003558486, CADD 35.00, Pathogenic
- Q6H (p.Gln6His), Ensembl rs1204863860, REVEL 0.39, ESM-1b 0.00
- Q6R (p.Gln6Arg), rs771485861, ClinGen CA3163536, ClinVar RCV003442424, ExAC rs771485861, REVEL 0.34, ESM-1b 0.00, Uncertain significance, not provided
- H9R (p.His9Arg), rs774676239, ClinGen CA3163537, ClinVar RCV003961647, ExAC rs774676239, REVEL 0.21, ESM-1b 0.00, Uncertain significance, F11-related disorder
- I11T (p.Ile11Thr), TOPMed rs1739569535, REVEL 0.19, ESM-1b 0.00
- F13S (p.Phe13Ser), TOPMed rs1158492804, gnomAD rs1158492804, REVEL 0.63, ESM-1b 0.00
- T14A (p.Thr14Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- T14P (p.Thr14Pro), TOPMed rs1429348654, gnomAD rs1429348654, REVEL 0.25, ESM-1b 0.00
- V16F (p.Val16Phe), gnomAD rs1041104600, REVEL 0.56, ESM-1b 0.12
- V16L (p.Val16Leu), gnomAD rs1041104600, REVEL 0.56, ESM-1b 0.00
- S17C (p.Ser17Cys), rs2477149451, ClinGen CA358957426, ClinVar RCV004385777, REVEL 0.48, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G18D (p.Gly18Asp), ExAC rs774959355, TOPMed rs774959355, gnomAD rs774959355, REVEL 0.63, ESM-1b 0.62
- C20* (p.Cys20Ter), rs1739959023, ClinGen CA358957799, ClinVar RCV002310269, MetaLR 0.92, MetaSVM 0.96, Likely pathogenic
- C20S (p.Cys20Ser), ExAC rs775930271, gnomAD rs775930271, REVEL 0.73, ESM-1b 1.00
- C20W (p.Cys20Trp), TOPMed rs1739959023, REVEL 0.90, ESM-1b 1.00, Likely pathogenic
- T22I (p.Thr22Ile), ExAC rs760244383, gnomAD rs760244383, REVEL 0.18, ESM-1b 0.00
- Q23* (p.Gln23Ter), rs768409400, ClinGen CA199124, ClinVar RCV000169536, ClinVar RCV000727045, CADD 24.50, Pathogenic
- K26E (p.Lys26Glu), Ensembl rs879034415, REVEL 0.14, ESM-1b 0.00
- T28I (p.Thr28Ile), cosmic curated COSV11289, ExAC rs775977740, gnomAD rs775977740, REVEL 0.17, ESM-1b 0.00
- C29S (p.Cys29Ser), Ensembl rs2126720081, REVEL 0.22, ESM-1b 0.00
- F30C (p.Phe30Cys), gnomAD rs932824943, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Plasma factor XI deficiency
- F30S (p.Phe30Ser), rs932824943, ClinGen CA358957865, ClinVar RCV002280987, UniProt VAR 076515, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Hereditary factor XI deficiency disease
- G32R (p.Gly32Arg), rs281875259, ClinGen CA219164, cosmic curated COSV10510, ClinVar RCV000059038, ESM-1b 1.00, AlphaMissense 0.52, Uncertain significance, not specified; not provided; Hereditary factor XI deficiency disease
- G33E (p.Gly33Glu), ExAC rs764869222, gnomAD rs764869222, REVEL 0.54, ESM-1b 0.27
- D34H (p.Asp34His), rs281875267, ClinGen CA219094, ClinVar RCV000059001, UniProt VAR 012085, REVEL 0.69, ESM-1b 0.67, Uncertain significance, not provided
- I35V (p.Ile35Val), Ensembl rs2126720201, REVEL 0.23, ESM-1b 0.60
- T37K (p.Thr37Lys), TOPMed rs1377806811, gnomAD rs1377806811, REVEL 0.51, ESM-1b 0.00
- T37M (p.Thr37Met), rs1377806811, cosmic curated COSV10510, TOPMed rs1377806811, gnomAD rs1377806811, REVEL 0.49, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- V38F (p.Val38Phe), rs1165596644, ClinGen CA358957914, ClinVar RCV004385772, TOPMed rs1165596644, REVEL 0.57, ESM-1b 0.84, Uncertain significance, Inborn genetic diseases; not provided
- F39L (p.Phe39Leu), Ensembl rs1739965194, REVEL 0.41, ESM-1b 0.00
- T40I (p.Thr40Ile), Ensembl rs211694396, REVEL 0.79, ESM-1b 1.00, Uncertain significance, not specified
- A43T (p.Ala43Thr), rs281875264, ClinGen CA219104, ClinVar RCV000059006, ClinVar RCV004799774, REVEL 0.38, ESM-1b 0.00, Uncertain significance, not specified
- A43V (p.Ala43Val), TOPMed rs1739968020, REVEL 0.35, ESM-1b 0.00
- K44Q (p.Lys44Gln), gnomAD rs539655151, REVEL 0.12, ESM-1b 0.00
- Y45N (p.Tyr45Asn), TOPMed rs1739968973, REVEL 0.36, ESM-1b 1.00
- C46* (p.Cys46Ter), ExAC rs757279802, gnomAD rs757279802
- C46F (p.Cys46Phe), rs281875271, ClinGen CA219108, ClinVar RCV000059008, UniProt VAR 054894, REVEL 0.91, ESM-1b 1.00, not provided
- C46R (p.Cys46Arg), gnomAD rs1739969361, REVEL 0.90, ESM-1b 1.00
- Q47H (p.Gln47His), ExAC rs778981487, TOPMed rs778981487, gnomAD rs778981487, REVEL 0.60, ESM-1b 1.00
- V49A (p.Val49Ala), TOPMed rs1249898354, gnomAD rs1249898354, REVEL 0.34, ESM-1b 0.00
- V49D (p.Val49Asp), TOPMed rs1249898354, gnomAD rs1249898354, REVEL 0.62, ESM-1b 1.00
- C50S (p.Cys50Ser), 1000Genomes rs533298073, REVEL 0.84, ESM-1b 1.00
- T51C (p.Thr51Cys), NCI-TCGA Cosmic COSV9925, cosmic curated COSV99251, Variant assessed as somatic; moderate impact.
- T51I (p.Thr51Ile), rs281875252, ClinGen CA219118, ClinVar RCV000059013, ClinVar RCV003447484, REVEL 0.63, ESM-1b 1.00, Conflicting interpretations, not specified; Hereditary factor XI deficiency disease
- T51P (p.Thr51Pro), rs281875243, ClinGen CA219116, NCI-TCGA Cosmic COSV5301, cosmic curated COSV53010, REVEL 0.77, ESM-1b 1.00, Pathogenic, Plasma factor XI deficiency
- Y52* (p.Tyr52Ter), rs1554081886, ClinGen CA658822912, ClinVar RCV000665461, ClinVar RCV003480752, Likely pathogenic
- H53Q (p.His53Gln), rs281875261, ClinGen CA219126, ClinVar RCV000059017, ClinVar RCV004700369, ESM-1b 1.00, AlphaMissense 0.59, Uncertain significance, not specified
- H53Y (p.His53Tyr), ExAC rs55956266, gnomAD rs55956266, REVEL 0.54, ESM-1b 1.00, Likely pathogenic, Hereditary factor XI deficiency disease
- P54S (p.Pro54Ser), ExAC rs772706772, TOPMed rs772706772, gnomAD rs772706772, REVEL 0.52, ESM-1b 0.64
- C56* (p.Cys56Ter), rs1739974269, ClinGen CA358958032, ClinVar RCV003555166, Ensembl rs1739974269, CADD 24.70, Pathogenic, in FA11D
- C56R (p.Cys56Arg), rs121965069, ClinGen CA121763, ClinVar RCV000012676, ClinVar RCV000802420, REVEL 0.87, ESM-1b 1.00, Pathogenic/Likely pathogenic, Plasma factor XI deficiency; Factor XI deficiency; F11-related disorder
- C56Y (p.Cys56Tyr), gnomAD rs1268515791, REVEL 0.86, ESM-1b 1.00
- T60S (p.Thr60Ser), ExAC rs768158918, gnomAD rs768158918, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T62M (p.Thr62Met), gnomAD rs1374494815, REVEL 0.18, ESM-1b 0.00
- A63G (p.Ala63Gly), NCI-TCGA Cosmic COSV5300, Variant assessed as somatic; low impact.
- A63E (p.Ala63Glu), ExAC rs281875244, TOPMed rs281875244, gnomAD rs281875244, REVEL 0.30, ESM-1b 0.00, Likely pathogenic, in FA11D
- A63V (p.Ala63Val), rs281875244, ClinGen CA219136, ClinVar RCV000059023, ClinVar RCV000670641, REVEL 0.55, ESM-1b 0.00, Uncertain significance, Hereditary factor XI deficiency disease
- P66L (p.Pro66Leu), rs5968, UniProt VAR 011774, ESP rs5968, ExAC rs5968, REVEL 0.18, ESM-1b 0.00
- P66Q (p.Pro66Gln), ESP rs5968, ExAC rs5968, TOPMed rs5968, gnomAD rs5968, REVEL 0.21, ESM-1b 0.00
- P66S (p.Pro66Ser), rs144595035, ClinGen CA3163574, cosmic curated COSV11290, ClinVar RCV004385775, REVEL 0.22, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- S67A (p.Ser67Ala), TOPMed rs1383962249, gnomAD rs1383962249, REVEL 0.15, ESM-1b 0.00
- S67P (p.Ser67Pro), TOPMed rs1383962249, gnomAD rs1383962249, REVEL 0.14, ESM-1b 0.00
- E68K (p.Glu68Lys), gnomAD rs1293668909, REVEL 0.14, ESM-1b 0.00
- D69G (p.Asp69Gly), rs1002456131, ClinGen CA112149165, cosmic curated COSV53009, ClinVar RCV002283296, REVEL 0.58, ESM-1b 0.56, Uncertain significance, not provided; Inborn genetic diseases
- D69N (p.Asp69Asn), rs1219290117, NCI-TCGA Cosmic COSV9925, TOPMed rs1219290117, gnomAD rs1219290117, REVEL 0.39, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P70L (p.Pro70Leu), ExAC rs766389425, gnomAD rs766389425, REVEL 0.42, ESM-1b 0.00
- T71I (p.Thr71Ile), TOPMed rs1278571867, REVEL 0.33, ESM-1b 0.00
- R72* (p.Arg72Ter), ExAC rs773987040, gnomAD rs773987040, Pathogenic
- R72L (p.Arg72Leu), 1000Genomes rs567451638, ExAC rs567451638, TOPMed rs567451638, gnomAD rs567451638, REVEL 0.21, ESM-1b 0.55
- R72P (p.Arg72Pro), 1000Genomes rs567451638, ExAC rs567451638, TOPMed rs567451638, gnomAD rs567451638, REVEL 0.55, ESM-1b 1.00, Uncertain significance, not specified
- R72Q (p.Arg72Gln), rs567451638, cosmic curated COSV10510, 1000Genomes rs567451638, ExAC rs567451638, REVEL 0.25, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- W73* (p.Trp73Ter), rs762013077, ClinGen CA3163603, ClinVar RCV000409418, ClinVar RCV001865257, CADD 38.00, Pathogenic
- W73C (p.Trp73Cys), ExAC rs762013077, TOPMed rs762013077, gnomAD rs762013077, REVEL 0.70, ESM-1b 0.00, Pathogenic
- W73G (p.Trp73Gly), TOPMed rs896571623, gnomAD rs896571623, REVEL 0.45, ESM-1b 0.00, Uncertain significance
- W73R (p.Trp73Arg), TOPMed rs896571623, gnomAD rs896571623, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- C76F (p.Cys76Phe), ExAC rs758461048, gnomAD rs758461048, REVEL 0.96, ESM-1b 1.00
- C76S (p.Cys76Ser), ExAC rs758461048, gnomAD rs758461048, REVEL 0.88, ESM-1b 1.00
- V77A (p.Val77Ala), rs1433941674, ClinGen CA358958171, ClinVar RCV001420443, gnomAD rs1433941674, REVEL 0.32, ESM-1b 0.28, Uncertain significance, Hereditary factor XI deficiency disease
- L78M (p.Leu78Met), gnomAD rs1173237540, REVEL 0.60, ESM-1b 0.98
- L78P (p.Leu78Pro), gnomAD rs1373928760, REVEL 0.92, ESM-1b 1.00
- D80Y (p.Asp80Tyr), TOPMed rs1740099642, REVEL 0.86, ESM-1b 1.00
- S81I (p.Ser81Ile), ExAC rs766388775, gnomAD rs766388775, REVEL 0.87, ESM-1b 1.00
- V82L (p.Val82Leu), TOPMed rs1041017986, gnomAD rs1041017986, REVEL 0.15, ESM-1b 0.00
- T83S (p.Thr83Ser), ExAC rs752048612, gnomAD rs752048612, REVEL 0.34, ESM-1b 0.00
- L86P (p.Leu86Pro), NCI-TCGA TCGA novel, Ensembl rs2126726572, REVEL 0.80, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P87L (p.Pro87Leu), TOPMed rs891827731, REVEL 0.79, ESM-1b 0.48
- P87S (p.Pro87Ser), TOPMed rs1417703401, gnomAD rs1417703401, REVEL 0.78, ESM-1b 0.19
- R88I (p.Arg88Ile), cosmic curated COSV99251, ExAC rs755446937, TOPMed rs755446937, gnomAD rs755446937, REVEL 0.27, ESM-1b 0.18
- R88S (p.Arg88Ser), TOPMed rs1740101612, REVEL 0.17, ESM-1b 0.00
- V89M (p.Val89Met), cosmic curated COSV53006, Ensembl rs1740101842, REVEL 0.55, ESM-1b 0.00, Uncertain significance, Hereditary factor XI deficiency disease
- N90K (p.Asn90Lys), ESP rs374703864, ExAC rs374703864, TOPMed rs374703864, gnomAD rs374703864, REVEL 0.15, ESM-1b 0.00, Likely benign
- N90T (p.Asn90Thr), TOPMed rs1410688787, gnomAD rs1410688787, REVEL 0.25, ESM-1b 0.00
- R91M (p.Arg91Met), rs2477229263, ClinGen CA358958259, ClinVar RCV003367171, REVEL 0.18, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- R91S (p.Arg91Ser), ExAC rs748582206, gnomAD rs748582206, REVEL 0.43, ESM-1b 0.00
- R91W (p.Arg91Trp), gnomAD rs1348710177, REVEL 0.42, ESM-1b 0.87, Uncertain significance, Plasma factor XI deficiency
- T92R (p.Thr92Arg), gnomAD rs1223706999, REVEL 0.58, ESM-1b 0.00
- A93C (p.Ala93Cys), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.39, Variant assessed as somatic; moderate impact.
- A93T (p.Ala93Thr), gnomAD rs1234077704, REVEL 0.47, ESM-1b 0.00
- A93V (p.Ala93Val), TOPMed rs1177407609, gnomAD rs1177407609, REVEL 0.39, ESM-1b 0.00
- A94E (p.Ala94Glu), ESP rs367856671, ExAC rs367856671, TOPMed rs367856671, gnomAD rs367856671, REVEL 0.78, ESM-1b 1.00
- A94V (p.Ala94Val), rs367856671, cosmic curated COSV99251, ESP rs367856671, ExAC rs367856671, REVEL 0.62, ESM-1b 0.00, Uncertain significance, not provided
- S99Y (p.Ser99Tyr), gnomAD rs1210144626, REVEL 0.85, ESM-1b 1.00, Uncertain significance, not specified
- K101R (p.Lys101Arg), rs281875272, ClinGen CA219138, ClinVar RCV000059024, ClinVar RCV000667740, REVEL 0.75, ESM-1b 0.23, Likely pathogenic, Hereditary factor XI deficiency disease; F11-related disorders
- Q102* (p.Gln102Ter), rs543131176, ClinGen CA3163613, ClinVar RCV003819200, 1000Genomes rs543131176, CADD 36.00, Pathogenic
- Q102E (p.Gln102Glu), 1000Genomes rs543131176, ExAC rs543131176, gnomAD rs543131176, REVEL 0.55, ESM-1b 0.13, Pathogenic
- Q102K (p.Gln102Lys), 1000Genomes rs543131176, ExAC rs543131176, gnomAD rs543131176, REVEL 0.56, ESM-1b 0.00, Pathogenic
- C103* (p.Cys103Ter), rs1740105027, ClinGen CA1519932804, ClinVar RCV001380981, ClinVar RCV006636879, Pathogenic
- C103R (p.Cys103Arg), ExAC rs773735877, gnomAD rs773735877, REVEL 0.92, ESM-1b 1.00
- S104L (p.Ser104Leu), ExAC rs745811081, TOPMed rs745811081, gnomAD rs745811081, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- H105R (p.His105Arg), TOPMed rs1740107120, REVEL 0.29, ESM-1b 0.00
- H105Y (p.His105Tyr), gnomAD rs1453551656, REVEL 0.34, ESM-1b 0.00
- Q106* (p.Gln106Ter), ExAC rs772051983, gnomAD rs772051983
- I107V (p.Ile107Val), rs775238398, NCI-TCGA Cosmic COSV5300, cosmic curated COSV53004, ExAC rs775238398, REVEL 0.24, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A109T (p.Ala109Thr), rs768474112, ClinGen CA199066, NCI-TCGA Cosmic COSV9925, cosmic curated COSV99251, REVEL 0.28, ESM-1b 0.00, Pathogenic, Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- C110* (p.Cys110Ter), ExAC rs776296885, gnomAD rs776296885, Likely benign
- C110F (p.Cys110Phe), gnomAD rs1740187382, REVEL 0.92, ESM-1b 1.00
- C110Y (p.Cys110Tyr), gnomAD rs1740187382, REVEL 0.92, ESM-1b 1.00
- C110T (p.Cys110Thr), NCI-TCGA Cosmic COSV5300, cosmic curated COSV53007, gnomAD rs1318112085, Variant assessed as somatic; moderate impact.
- N111H (p.Asn111His), Ensembl rs1740187917, REVEL 0.20, ESM-1b 0.00
- N111I (p.Asn111Ile), ESP rs375281790, ExAC rs375281790, TOPMed rs375281790, gnomAD rs375281790, REVEL 0.58, ESM-1b 0.00
- N111S (p.Asn111Ser), ESP rs375281790, ExAC rs375281790, TOPMed rs375281790, gnomAD rs375281790, REVEL 0.24, ESM-1b 0.00
- K112E (p.Lys112Glu), rs2477244310, ClinGen CA358958407, ClinVar RCV002906642, REVEL 0.34, ESM-1b 0.31, Uncertain significance, Inborn genetic diseases
- K112R (p.Lys112Arg), Ensembl rs1740188433, REVEL 0.14, ESM-1b 0.00
- D113E (p.Asp113Glu), ExAC rs771118219, gnomAD rs771118219, REVEL 0.26, ESM-1b 0.00
- I114T (p.Ile114Thr), ExAC rs774468455, gnomAD rs774468455, REVEL 0.42, ESM-1b 0.70
- Y115C (p.Tyr115Cys), TOPMed rs1241701325, gnomAD rs1241701325, REVEL 0.58, ESM-1b 1.00
- D117G (p.Asp117Gly), cosmic curated COSV53009, gnomAD rs1424438515, REVEL 0.23, ESM-1b 0.00
- D117N (p.Asp117Asn), cosmic curated COSV10635, TOPMed rs1195858790, gnomAD rs1195858790, REVEL 0.14, ESM-1b 0.00, Uncertain significance, F11-related disorder
- D117V (p.Asp117Val), gnomAD rs1424438515, REVEL 0.48, ESM-1b 1.00
- D117Y (p.Asp117Tyr), TOPMed rs1195858790, gnomAD rs1195858790, REVEL 0.40, ESM-1b 1.00, Uncertain significance, Plasma factor XI deficiency
- D119E (p.Asp119Glu), gnomAD rs1161966488, REVEL 0.45, ESM-1b 0.00, Uncertain significance, not specified
- M120I (p.Met120Ile), ExAC rs753196205, gnomAD rs753196205, REVEL 0.45, ESM-1b 0.08
- M120T (p.Met120Thr), rs767727775, ClinGen CA3163642, ClinVar RCV000851646, ExAC rs767727775, REVEL 0.75, ESM-1b 1.00, Likely pathogenic, Hereditary factor XI deficiency disease
- K121N (p.Lys121Asn), TOPMed rs1358180761, gnomAD rs1358180761, REVEL 0.29, ESM-1b 0.00, Likely benign
- G122D (p.Gly122Asp), rs369650561, ClinGen CA3163644, ClinVar RCV000851977, ClinVar RCV003330943, REVEL 0.84, ESM-1b 0.85, Conflicting interpretations, Plasma factor XI deficiency; not specified; Hereditary factor XI deficiency dise
- G122T (p.Gly122Thr), NCI-TCGA Cosmic COSV5300, cosmic curated COSV53009, Variant assessed as somatic; moderate impact.
- Y125C (p.Tyr125Cys), rs1554082187, ClinGen CA358958500, ClinVar RCV000666448, ClinVar RCV005240423, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Hereditary factor XI deficiency disease; not specified
- V129D (p.Val129Asp), TOPMed rs1335412831, REVEL 0.25, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- V129F (p.Val129Phe), ESP rs150323681, TOPMed rs150323681, gnomAD rs150323681, REVEL 0.23, ESM-1b 0.00
- A130V (p.Ala130Val), TOPMed rs1292403408, REVEL 0.17, ESM-1b 0.00
- Q134* (p.Gln134Ter), rs756908183, ClinGen CA199092, ClinVar RCV000169273, ClinVar RCV000726287, CADD 34.00, Pathogenic
- E135* (p.Glu135Ter), rs121965063, ClinGen CA121745, ClinVar RCV000012666, ClinVar RCV000311271, CADD 36.00, Pathogenic
- C136* (p.Cys136Ter), rs143648758, ClinGen CA199095, ClinVar RCV000169275, ClinVar RCV000851782, CADD 35.00, Pathogenic
- C136Y (p.Cys136Tyr), gnomAD rs1222942987, REVEL 0.91, ESM-1b 1.00
- E138Q (p.Glu138Gln), rs1219071481, ClinGen CA358958589, ClinVar RCV004385776, gnomAD rs1219071481, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R139* (p.Arg139Ter), rs2477246721, ClinGen CA358958597, ClinVar RCV002309575, Likely pathogenic
- R139I (p.Arg139Ile), ExAC rs779556113, gnomAD rs779556113, REVEL 0.64, ESM-1b 0.00
- R139K (p.Arg139Lys), NCI-TCGA Cosmic COSV9925, cosmic curated COSV99251, ExAC rs779556113, gnomAD rs779556113, REVEL 0.52, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- C140Y (p.Cys140Tyr), rs281875256, ClinGen CA219140, ClinVar RCV000059025, UniProt VAR 067935, REVEL 0.97, ESM-1b 1.00, Pathogenic, not provided
- T141K (p.Thr141Lys), 1000Genomes rs200593979, ESP rs200593979, ExAC rs200593979, TOPMed rs200593979, REVEL 0.72, ESM-1b 1.00, Likely pathogenic
- T141M (p.Thr141Met), rs200593979, ClinGen CA3163650, cosmic curated COSV53009, ClinVar RCV000670640, REVEL 0.76, ESM-1b 1.00, Conflicting interpretations, Plasma factor XI deficiency; Hereditary factor XI deficiency disease; not provid
- D142G (p.Asp142Gly), ExAC rs774387687, TOPMed rs774387687, gnomAD rs774387687, REVEL 0.43, ESM-1b 0.00
- D142N (p.Asp142Asn), cosmic curated COSV53009, TOPMed rs1328491769, gnomAD rs1328491769, REVEL 0.24, ESM-1b 0.00
- D143A (p.Asp143Ala), Ensembl rs1580075811, REVEL 0.62, ESM-1b 0.00
- V144A (p.Val144Ala), Ensembl rs201775627, REVEL 0.17, ESM-1b 0.00
- V144I (p.Val144Ile), cosmic curated COSV10959, gnomAD rs991720364, REVEL 0.26, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- H145P (p.His145Pro), rs199657604, ClinGen CA358958635, ClinVar RCV003990659, REVEL 0.69, ESM-1b 1.00, Likely pathogenic, Hereditary factor XI deficiency disease
- H145R (p.His145Arg), rs199657604, ClinVar RCV004791156, ClinVar RCV004796893, 1000Genomes rs199657604, REVEL 0.41, ESM-1b 0.00, Conflicting interpretations, not provided; Hereditary factor XI deficiency disease
- C146* (p.Cys146Ter), rs121965066, ClinGen CA121752, ClinVar RCV000012671, ClinVar RCV001228574, CADD 33.00, Pathogenic
- C146R (p.Cys146Arg), ExAC rs761248034, gnomAD rs761248034, REVEL 0.97, ESM-1b 1.00
- H147R (p.His147Arg), Ensembl rs2126731280, REVEL 0.62, ESM-1b 0.00
- F148V (p.Phe148Val), Ensembl rs1580075901, REVEL 0.86, ESM-1b 1.00
- T150A (p.Thr150Ala), rs1740201176, ClinGen CA358958670, ClinVar RCV001810671, Ensembl rs1740201176, REVEL 0.77, ESM-1b 1.00, Uncertain significance, not provided
- T150K (p.Thr150Lys), rs1340928778, TOPMed rs1340928778, gnomAD rs1340928778, REVEL 0.81, ESM-1b 1.00, Likely pathogenic, not provided
- T150M (p.Thr150Met), rs1340928778, ClinGen CA358958674, ClinVar RCV000671578, ClinVar RCV006642432, REVEL 0.82, ESM-1b 1.00, Likely pathogenic, Hereditary factor XI deficiency disease; Plasma factor XI deficiency
- Y151C (p.Tyr151Cys), rs281875273, ClinGen CA219142, ClinVar RCV000059026, ClinVar RCV003323384, REVEL 0.68, ESM-1b 1.00, Uncertain significance, not specified
- A152P (p.Ala152Pro), 1000Genomes rs199541645, ESP rs199541645, ExAC rs199541645, TOPMed rs199541645, REVEL 0.71, ESM-1b 1.00
- A152T (p.Ala152Thr), 1000Genomes rs199541645, ESP rs199541645, ExAC rs199541645, TOPMed rs199541645, REVEL 0.56, ESM-1b 0.18
- R154G (p.Arg154Gly), TOPMed rs1286976077, gnomAD rs1286976077, REVEL 0.16, ESM-1b 0.00
- R154K (p.Arg154Lys), ESP rs369850780, ExAC rs369850780, TOPMed rs369850780, gnomAD rs369850780, REVEL 0.12, ESM-1b 0.00
- R154M (p.Arg154Met), cosmic curated COSV11290, ESP rs369850780, ExAC rs369850780, TOPMed rs369850780, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- Q155K (p.Gln155Lys), TOPMed rs888091460, gnomAD rs888091460, REVEL 0.16, ESM-1b 0.00
- F156L (p.Phe156Leu), 1000Genomes rs142929551, ExAC rs142929551, TOPMed rs142929551, gnomAD rs142929551, REVEL 0.59, ESM-1b 1.00
- F156S (p.Phe156Ser), rs144674776, ClinGen CA358958708, ClinVar RCV003212721, ESP rs144674776, REVEL 0.77, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- F156Y (p.Phe156Tyr), ESP rs144674776, ExAC rs144674776, TOPMed rs144674776, gnomAD rs144674776, REVEL 0.41, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- P157S (p.Pro157Ser), TOPMed rs987237958, gnomAD rs987237958, REVEL 0.33, ESM-1b 0.83, Uncertain significance, Plasma factor XI deficiency
Public F11 analysis runs
- F11 analysis run — F11 (1,187 variants) — completed 2026-10-25
- F11 analysis run — F11 (1,261 variants) — completed 2026-08-19