FGA (Fibrinogen alpha chain) variants and mutations
FGA (also known as Fibrinogen alpha chain) is a human protein-coding gene encoding a fibrinogen alpha chain protein. It contributes the alpha chains of fibrinogen, which thrombin converts into fibrin to form the structural mesh of blood clots. Pathogenic variants can cause afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, thrombosis, or certain hereditary amyloidoses. This analysis covers 1,569 FGA variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes familial dysfibrinogenemia, Familial renal amyloidosis, and familial visceral amyloidosis. Example FGA variants include M1?, F2L, and F2S.
Variant analysis overview
- Gene: FGA
- Protein: Fibrinogen alpha chain
- UniProt accession: P02671
- Organism: Homo sapiens
- Variants analyzed: 1569
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,266 unspecified-consequence records; 4 stop lost; 107 synonymous variants; 144 missense variants; 22 frameshift variants; 9 in-frame deletions; 8 stop-gained variants; 3 in-frame insertions; 1 stop retained variant; 4 substitution
- Prediction scores: 1,133 variants have prediction scores (72% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial dysfibrinogenemia, Familial renal amyloidosis, familial visceral amyloidosis, congenital afibrinogenemia, familial hypodysfibrinogenemia, congenital fibrinogen deficiency, Familial afibrinogenemia, cancer, Hypofibrinogenemia, Noonan syndrome, hypertrophic cardiomyopathy, Costello syndrome.
Protein structure and variant hotspots
- Protein features: 1 domains; 4 binding sites; 20 post-translational modification sites.
- Structural context: 656 variants have structural context.
- PTM context: 26 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable FGA variants
Examples include M1?, F2L, F2S, S3F, S3Y, M4L, M4V, R5K. 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.
- F2L (p.Phe2Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F2S (p.Phe2Ser), TOPMed rs1227975411, gnomAD rs1227975411, REVEL 0.05, CADD 18.70, Uncertain significance, not provided
- S3F (p.Ser3Phe), rs771156473, ClinGen CA3115422, cosmic curated COSV57393, ClinVar RCV001338449, REVEL 0.15, CADD 23.50, Uncertain significance, Familial visceral amyloidosis, Ostertag type; Familial dysfibrinogenemia; Congen
- S3Y (p.Ser3Tyr), cosmic curated COSV10012, ExAC rs771156473, TOPMed rs771156473, gnomAD rs771156473, REVEL 0.14, CADD 23.40, Uncertain significance
- M4L (p.Met4Leu), ExAC rs778145089, TOPMed rs778145089, gnomAD rs778145089, REVEL 0.09, CADD 0.00
- M4V (p.Met4Val), ExAC rs778145089, TOPMed rs778145089, gnomAD rs778145089, REVEL 0.07, CADD 0.00
- R5K (p.Arg5Lys), ESP rs370674653, ExAC rs370674653, TOPMed rs370674653, gnomAD rs370674653, REVEL 0.04, CADD 11.30, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- I6M (p.Ile6Met), ExAC rs781476643, TOPMed rs781476643, gnomAD rs781476643, REVEL 0.07, CADD 22.90
- I6V (p.Ile6Val), rs2070025, ClinGen CA3115418, cosmic curated COSV10738, ClinVar RCV000309151, REVEL 0.04, CADD 8.04, Benign, Congenital afibrinogenemia; not provided; Familial visceral amyloidosis, Osterta
- V7F (p.Val7Phe), 1000Genomes rs184672247, ExAC rs184672247, TOPMed rs184672247, gnomAD rs184672247, REVEL 0.05, CADD 0.00, Uncertain significance, not specified
- V7I (p.Val7Ile), cosmic curated COSV57392, 1000Genomes rs184672247, ExAC rs184672247, TOPMed rs184672247, REVEL 0.04, CADD 0.00, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- V7L (p.Val7Leu), rs184672247, 1000Genomes rs184672247, ExAC rs184672247, TOPMed rs184672247, REVEL 0.03, CADD 0.00, Uncertain significance
- C8* (p.Cys8Ter), 1000Genomes rs1250962091, gnomAD rs1250962091, CADD 36.00
- C8R (p.Cys8Arg), gnomAD rs1730845993, REVEL 0.28, CADD 24.40
- V10D (p.Val10Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V10I (p.Val10Ile), rs1235187701, ClinGen CA358534515, ClinVar RCV003151525, gnomAD rs1235187701, REVEL 0.09, CADD 14.40, Uncertain significance, not specified
- V14L (p.Val14Leu), TOPMed rs1301255964, gnomAD rs1301255964, REVEL 0.10, CADD 14.20, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- V14M (p.Val14Met), cosmic curated COSV57401, TOPMed rs1301255964, gnomAD rs1301255964, REVEL 0.11, CADD 17.10, Uncertain significance, not specified; Familial visceral amyloidosis, Ostertag type; Familial dysfibrino
- G15S (p.Gly15Ser), cosmic curated COSV57399, TOPMed rs1344747671, gnomAD rs1344747671, REVEL 0.14, CADD 22.80
- A17G (p.Ala17Gly), Ensembl rs750788794, REVEL 0.12, CADD 15.80
- W18C (p.Trp18Cys), gnomAD rs1309670229, REVEL 0.20, CADD 35.00
- W18G (p.Trp18Gly), ExAC rs752060003, gnomAD rs752060003, REVEL 0.12, CADD 23.30, Uncertain significance
- W18R (p.Trp18Arg), ExAC rs752060003, gnomAD rs752060003, REVEL 0.15, CADD 24.20, Uncertain significance, Inborn genetic diseases
- T19A (p.Thr19Ala), TOPMed rs1192445605, gnomAD rs1192445605, REVEL 0.11, CADD 11.60
- T19I (p.Thr19Ile), ExAC rs768929189, gnomAD rs768929189
- T19N (p.Thr19Asn), ExAC rs768929189, gnomAD rs768929189, REVEL 0.07, CADD 17.90
- A20T (p.Ala20Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D21G (p.Asp21Gly), gnomAD rs1418346384, REVEL 0.05, CADD 19.70
- D21Y (p.Asp21Tyr), NCI-TCGA Cosmic COSV5739, cosmic curated COSV57393, Variant assessed as somatic; moderate impact.
- S22N (p.Ser22Asn), ExAC rs746520934, gnomAD rs746520934, REVEL 0.05, CADD 0.26
- S22T (p.Ser22Thr), ExAC rs746520934, gnomAD rs746520934, REVEL 0.04, CADD 0.04
- G23C (p.Gly23Cys), Ensembl rs1730821582
- G25V (p.Gly25Val), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57400, Variant assessed as somatic; moderate impact.
- D26N (p.Asp26Asn), rs121909604, ClinGen CA126455, cosmic curated COSV57401, ClinVar RCV000017823, AlphaMissense 0.22, MetaLR 0.16, other, FIBRINOGEN LILLE 1
- D26Y (p.Asp26Tyr), gnomAD rs121909604, REVEL 0.07, AlphaMissense 0.22
- F27Y (p.Phe27Tyr), NCI-TCGA Cosmic COSV5739, cosmic curated COSV57397, Variant assessed as somatic; moderate impact.
- A29P (p.Ala29Pro), Ensembl rs553680591, REVEL 0.14, CADD 10.40
- E30Q (p.Glu30Gln), Ensembl rs1051175472
- G31* (p.Gly31Ter), gnomAD rs1255633370, CADD 36.00
- G31V (p.Gly31Val), rs121909605, ClinGen CA126460, ClinVar RCV000017824, ClinVar RCV002284175, REVEL 0.49, CADD 26.90, Conflicting interpretations, not specified; Familial visceral amyloidosis, Ostertag type; Familial dysfibrino
- G32* (p.Gly32Ter), gnomAD rs1187015208, CADD 37.00
- G32R (p.Gly32Arg), gnomAD rs1187015208
- G33A (p.Gly33Ala), gnomAD rs1286361834, REVEL 0.05, CADD 10.20
- G33S (p.Gly33Ser), 1000Genomes rs541699852, ExAC rs541699852, TOPMed rs541699852, gnomAD rs541699852, REVEL 0.06, CADD 17.40, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- V34L (p.Val34Leu), ExAC rs746367635, TOPMed rs746367635, gnomAD rs746367635, Uncertain significance
- V34M (p.Val34Met), cosmic curated COSV57396, ExAC rs746367635, TOPMed rs746367635, gnomAD rs746367635, REVEL 0.10, CADD 23.20, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- R35C (p.Arg35Cys), rs121909606, ClinGen CA126465, NCI-TCGA Cosmic COSV5739, cosmic curated COSV57393, REVEL 0.44, AlphaMissense 0.79, Pathogenic/Likely pathogenic, Familial dysfibrinogenemia; not provided; Congenital afibrinogenemia
- R35G (p.Arg35Gly), rs121909606, ClinGen CA358533906, ClinVar RCV002245494, ClinVar RCV003313800, AlphaMissense 0.79, MetaLR 0.60, Uncertain significance, Familial dysfibrinogenemia
- R35H (p.Arg35His), rs121909607, ClinGen CA130224, cosmic curated COSV57397, ClinVar RCV000030941, REVEL 0.36, AlphaMissense 0.87, Pathogenic, Hypofibrinogenemia; Abnormal bleeding; not provided
- R35N (p.Arg35Asn), rs2530830204, ClinGen CA2580616796, ClinVar RCV000017841, other, FIBRINOGEN MUNICH 1
- R35P (p.Arg35Pro), rs121909607, ClinGen CA358533905, ClinVar RCV000851972, ExAC rs121909607, AlphaMissense 0.87, MetaLR 0.60, Pathogenic, Hypofibrinogenemia
- R35S (p.Arg35Ser), rs121909606, ClinGen CA358533907, ClinVar RCV000851968, gnomAD rs121909606, REVEL 0.49, AlphaMissense 0.79, Pathogenic, Hypofibrinogenemia
- G36D (p.Gly36Asp), rs2530830192, ClinGen CA358533899, ClinVar RCV004534409, REVEL 0.69, CADD 26.10, Likely pathogenic, FGA-related disorder
- P37L (p.Pro37Leu), rs121909609, ClinGen CA126474, ClinVar RCV000017844, UniProt VAR 002394, AlphaMissense 0.39, MetaLR 0.45, other, FIBRINOGEN KYOTO 2
- P37S (p.Pro37Ser), TOPMed rs1269279781, gnomAD rs1269279781, REVEL 0.30, CADD 23.40
- R38G (p.Arg38Gly), rs121909608, ClinGen CA126469, ClinVar RCV000017843, ClinVar RCV000851993, REVEL 0.59, CADD 27.30, Likely pathogenic, not provided; Hypofibrinogenemia
- R38M (p.Arg38Met), NCI-TCGA Cosmic COSV5740, Variant assessed as somatic; moderate impact., in Detroit-1
- R38N (p.Arg38Asn), UniProt VAR 002395, Uncertain significance, in Munich-1
- R38S (p.Arg38Ser), rs1403508334, ClinGen CA358533872, ClinVar RCV000017842, ClinVar RCV006277649, AlphaMissense 0.93, MetaLR 0.51, Likely pathogenic, not provided
- V39A (p.Val39Ala), TOPMed rs121909614, gnomAD rs121909614, REVEL 0.15, CADD 22.40
- V39D (p.Val39Asp), rs121909614, ClinGen CA126502, ClinVar RCV000017874, ClinVar RCV006277650, REVEL 0.27, CADD 24.00, Pathogenic, not provided
- V39I (p.Val39Ile), TOPMed rs927176700
- V40M (p.Val40Met), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10012, Variant assessed as somatic; moderate impact.
- E41D (p.Glu41Asp), Ensembl rs1578799505
- R42S (p.Arg42Ser), ExAC rs772612419, gnomAD rs772612419, REVEL 0.07, CADD 10.40
- H43R (p.His43Arg), ESP rs374076087, ExAC rs374076087, gnomAD rs374076087, REVEL 0.09, CADD 3.10
- S45P (p.Ser45Pro), gnomAD rs1395097897, REVEL 0.25, CADD 24.40
- S45T (p.Ser45Thr), gnomAD rs1395097897, REVEL 0.17, CADD 23.60
- A46S (p.Ala46Ser), TOPMed rs1166880343, gnomAD rs1166880343
- A46T (p.Ala46Thr), cosmic curated COSV10812, TOPMed rs1166880343, gnomAD rs1166880343, REVEL 0.24, CADD 0.09
- C47R (p.Cys47Arg), Ensembl rs918801719, REVEL 0.75, CADD 28.70
- D49G (p.Asp49Gly), gnomAD rs1416033313, REVEL 0.40, CADD 26.80
- D49H (p.Asp49His), ExAC rs755864144, TOPMed rs755864144, gnomAD rs755864144, REVEL 0.47, CADD 27.30
- D49N (p.Asp49Asn), NCI-TCGA Cosmic COSV5739, cosmic curated COSV57393, Variant assessed as somatic; moderate impact.
- D49Y (p.Asp49Tyr), rs755864144, NCI-TCGA Cosmic COSV5739, cosmic curated COSV57394, REVEL 0.52, CADD 28.20, Variant assessed as somatic; moderate impact.
- D51G (p.Asp51Gly), gnomAD rs1321788355, REVEL 0.19, CADD 21.10
- D51N (p.Asp51Asn), Ensembl rs1730818603
- D51Y (p.Asp51Tyr), NCI-TCGA Cosmic COSV5739, cosmic curated COSV57393, Variant assessed as somatic; moderate impact.
- W52* (p.Trp52Ter), gnomAD rs1191056412
- W52C (p.Trp52Cys), Ensembl rs2110819982
- W52R (p.Trp52Arg), rs949715586, ClinGen CA108763375, ClinVar RCV002224683, ClinVar RCV004047218, REVEL 0.85, CADD 32.00, Uncertain significance, not provided; Inborn genetic diseases
- P53S (p.Pro53Ser), ExAC rs759615959, TOPMed rs759615959, gnomAD rs759615959
- F54L (p.Phe54Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C55F (p.Cys55Phe), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10012, Variant assessed as somatic; moderate impact., in CAFBN
- C55R (p.Cys55Arg), rs2530829969, ClinGen CA358533669, ClinVar RCV003480132, UniProt VAR 072721, Pathogenic, not provided
- C55S (p.Cys55Ser), TOPMed rs1730817981, NCI-TCGA Cosmic COSV5740, cosmic curated COSV57401, REVEL 0.79, CADD 27.70, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- C55Y (p.Cys55Tyr), TOPMed rs1730817981, Uncertain significance, in CAFBN
- S56P (p.Ser56Pro), TOPMed rs1226993918, REVEL 0.53, CADD 22.70
- D57G (p.Asp57Gly), ExAC rs765285466, TOPMed rs765285466, gnomAD rs765285466, REVEL 0.89, CADD 32.00
- D57N (p.Asp57Asn), Ensembl rs1730817751
- E58D (p.Glu58Asp), cosmic curated COSV10587, TOPMed rs1289522133, gnomAD rs1289522133
- E58K (p.Glu58Lys), gnomAD rs1730817582, REVEL 0.59, CADD 30.00
- E58V (p.Glu58Val), Ensembl rs1730817511
- D59G (p.Asp59Gly), gnomAD rs1214827293, REVEL 0.91, CADD 32.00
- D59N (p.Asp59Asn), TOPMed rs1730817322
- W60C (p.Trp60Cys), 1000Genomes rs2110819865, REVEL 0.78, CADD 34.00
- N61K (p.Asn61Lys), rs759852500, ClinGen CA3115358, ClinVar RCV004393922, ExAC rs759852500, REVEL 0.30, CADD 16.40, Uncertain significance, Inborn genetic diseases
- Y62C (p.Tyr62Cys), ExAC rs771411206, gnomAD rs771411206, REVEL 0.30, CADD 13.00
- Y62H (p.Tyr62His), ExAC rs774723861, gnomAD rs774723861
- Y62N (p.Tyr62Asn), ExAC rs774723861, gnomAD rs774723861, REVEL 0.28, CADD 0.02
- K63* (p.Lys63Ter), rs1184440187, ClinVar RCV005418812, TOPMed rs1184440187, gnomAD rs1184440187, CADD 38.00, Pathogenic
- P65H (p.Pro65His), cosmic curated COSV10609, TOPMed rs1427604497, gnomAD rs1427604497, REVEL 0.95, CADD 27.50
- P65S (p.Pro65Ser), Ensembl rs1560827531, Uncertain significance
- P65T (p.Pro65Thr), rs1560827531, ClinGen CA358533472, ClinVar RCV000722253, Ensembl rs1560827531, AlphaMissense 0.87, MetaLR 0.96, Uncertain significance, not provided
- S66T (p.Ser66Thr), UniProt VAR 002398
- R69K (p.Arg69Lys), rs1366944551, ClinGen CA358533420, cosmic curated COSV10964, ClinVar RCV004393923, REVEL 0.61, CADD 26.10, Uncertain significance, Inborn genetic diseases
- G72E (p.Gly72Glu), rs1730803914, ClinGen CA358533376, ClinVar RCV001251021, Ensembl rs1730803914, AlphaMissense 0.90, MetaLR 0.74, Uncertain significance, Familial visceral amyloidosis, Ostertag type
- G72R (p.Gly72Arg), ExAC rs749744029, TOPMed rs749744029, gnomAD rs749744029, REVEL 0.85, CADD 26.80, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- G72W (p.Gly72Trp), NCI-TCGA Cosmic COSV5740, cosmic curated COSV57400, Variant assessed as somatic; moderate impact.
- I74T (p.Ile74Thr), TOPMed rs1730803730, gnomAD rs1730803730, REVEL 0.70, CADD 24.90
- D75E (p.Asp75Glu), TOPMed rs1578798992, REVEL 0.67, CADD 22.70
- D75V (p.Asp75Val), Ensembl rs915183884, REVEL 0.83, CADD 28.50
- V77A (p.Val77Ala), Ensembl rs1578798984
- N78D (p.Asn78Asp), gnomAD rs1485772303, REVEL 0.24, CADD 18.40
- D80G (p.Asp80Gly), cosmic curated COSV57402, ExAC rs747854049, gnomAD rs747854049, REVEL 0.69, CADD 27.50
- D80Y (p.Asp80Tyr), rs1208077350, NCI-TCGA Cosmic COSV5739, cosmic curated COSV57392, gnomAD rs1208077350, REVEL 0.71, CADD 27.30, Variant assessed as somatic; moderate impact.
- T82A (p.Thr82Ala), ESP rs199554805, ExAC rs199554805, TOPMed rs199554805, gnomAD rs199554805, REVEL 0.32, CADD 22.30, Benign
- T82I (p.Thr82Ile), gnomAD rs1370908282, REVEL 0.55, CADD 24.30
- T82P (p.Thr82Pro), rs199554805, ClinGen CA3115349, ClinVar RCV000344051, ClinVar RCV000404726, REVEL 0.59, CADD 26.20, Conflicting interpretations, not specified; Congenital afibrinogenemia; not provided
- N83I (p.Asn83Ile), 1000Genomes rs186283932, ExAC rs186283932, TOPMed rs186283932, gnomAD rs186283932, REVEL 0.36, CADD 21.90, Uncertain significance
- N83K (p.Asn83Lys), rs2530828516, ClinGen CA358533280, ClinVar RCV003198228, Uncertain significance, Inborn genetic diseases
- N83S (p.Asn83Ser), 1000Genomes rs186283932, ExAC rs186283932, TOPMed rs186283932, gnomAD rs186283932, REVEL 0.20, CADD 10.40, Uncertain significance, Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- R84I (p.Arg84Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R84K (p.Arg84Lys), ExAC rs758424291, gnomAD rs758424291, REVEL 0.44, CADD 23.80
- I85M (p.Ile85Met), ExAC rs750292318, gnomAD rs750292318, REVEL 0.41, CADD 22.10
- I85T (p.Ile85Thr), Ensembl rs1730802248
- K87Q (p.Lys87Gln), ExAC rs764281241, gnomAD rs764281241, REVEL 0.52, CADD 25.30
- L88H (p.Leu88His), rs77531839, ClinGen CA3115344, ClinVar RCV004527254, ClinVar RCV004588559, REVEL 0.82, CADD 25.10, Conflicting interpretations, not specified; not provided
- S91* (p.Ser91Ter), ExAC rs767657961, gnomAD rs767657961, CADD 33.00
- F93S (p.Phe93Ser), gnomAD rs1402885271, REVEL 0.17, CADD 13.20
- E94D (p.Glu94Asp), TOPMed rs986930834, gnomAD rs986930834, REVEL 0.18, CADD 1.25
- Y95H (p.Tyr95His), TOPMed rs1460369943, gnomAD rs1460369943
- Y95N (p.Tyr95Asn), TOPMed rs1460369943, gnomAD rs1460369943, REVEL 0.34, CADD 16.60
- Q96H (p.Gln96His), ExAC rs774835956, gnomAD rs774835956, REVEL 0.25, CADD 23.10
- Q96K (p.Gln96Lys), ExAC rs759907581, gnomAD rs759907581, REVEL 0.32, CADD 22.70
- Q96R (p.Gln96Arg), gnomAD rs1181855809
- N99K (p.Asn99Lys), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10012, Variant assessed as somatic; moderate impact.
- N99S (p.Asn99Ser), TOPMed rs1361627400
- K100R (p.Lys100Arg), gnomAD rs1185251751, REVEL 0.57, CADD 23.40
- D101N (p.Asp101Asn), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10012, Variant assessed as somatic; moderate impact.
- S102F (p.Ser102Phe), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10012, NCI-TCGA Cosmic COSV5739, Variant assessed as somatic; moderate impact.
- S102Y (p.Ser102Tyr), NCI-TCGA Cosmic COSV1001, NCI-TCGA Cosmic COSV5739, cosmic curated COSV57395, Variant assessed as somatic; moderate impact.
- H103Y (p.His103Tyr), Ensembl rs1015772020, REVEL 0.18, CADD 8.85
- S104A (p.Ser104Ala), gnomAD rs1274117556, REVEL 0.14, CADD 6.79
- S104L (p.Ser104Leu), rs763555716, NCI-TCGA Cosmic COSV5739, cosmic curated COSV57393, ExAC rs763555716, REVEL 0.28, CADD 13.60, Uncertain significance, Inborn genetic diseases
- T106A (p.Thr106Ala), ExAC rs780998810, gnomAD rs780998810, REVEL 0.28, CADD 17.80
- T106N (p.Thr106Asn), Ensembl rs1730799549
- I109T (p.Ile109Thr), gnomAD rs1362818862, REVEL 0.26, CADD 18.60
- M110I (p.Met110Ile), cosmic curated COSV57401, gnomAD rs1730799135, REVEL 0.06, CADD 15.30
- M110T (p.Met110Thr), Ensembl rs1045071000
- E111G (p.Glu111Gly), rs1335815165, NCI-TCGA Cosmic COSV5739, cosmic curated COSV57396, gnomAD rs1335815165, REVEL 0.53, CADD 26.70, Variant assessed as somatic; moderate impact.
- E111K (p.Glu111Lys), NCI-TCGA Cosmic COSV5739, cosmic curated COSV57393, Variant assessed as somatic; moderate impact.
- I112N (p.Ile112Asn), ExAC rs774951769, TOPMed rs774951769, gnomAD rs774951769, REVEL 0.13, CADD 11.10, Uncertain significance, Inborn genetic diseases
- I112T (p.Ile112Thr), ExAC rs774951769, TOPMed rs774951769, gnomAD rs774951769, REVEL 0.13, CADD 7.55
- L113V (p.Leu113Val), gnomAD rs1289483935, REVEL 0.23, CADD 5.04
- R114K (p.Arg114Lys), rs750694816, ClinGen CA108762932, ClinVar RCV002470121, TOPMed rs750694816, REVEL 0.15, CADD 14.80, Uncertain significance, not specified
- D116A (p.Asp116Ala), ExAC rs779935778, TOPMed rs779935778, gnomAD rs779935778, REVEL 0.36, CADD 22.50
- D116N (p.Asp116Asn), rs886059153, ClinGen CA10620260, cosmic curated COSV57400, ClinVar RCV000305519, REVEL 0.17, CADD 11.10, Uncertain significance, Congenital afibrinogenemia; Familial visceral amyloidosis, Ostertag type; Inborn
- F117L (p.Phe117Leu), Ensembl rs1730798221
- S118* (p.Ser118Ter), gnomAD rs1419656315
- S119* (p.Ser119Ter), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10012, Variant assessed as somatic; high impact.
- S119T (p.Ser119Thr), cosmic curated COSV10587, 1000Genomes rs550983532, ExAC rs550983532, TOPMed rs550983532, REVEL 0.09, CADD 0.03
- A120V (p.Ala120Val), rs1463254197, ClinGen CA358533029, ClinVar RCV003994543, ClinVar RCV004529737, REVEL 0.20, CADD 15.10, Uncertain significance, not specified; FGA-related disorder
- N121S (p.Asn121Ser), ExAC rs750394034, TOPMed rs750394034, gnomAD rs750394034, REVEL 0.14, CADD 8.49
- N122D (p.Asn122Asp), gnomAD rs1730797437, REVEL 0.17, CADD 19.10
- R123C (p.Arg123Cys), cosmic curated COSV57395, gnomAD rs1388949358, REVEL 0.52, CADD 9.49
- R123H (p.Arg123His), cosmic curated COSV57398, ExAC rs745581691, TOPMed rs745581691, gnomAD rs745581691, REVEL 0.19, CADD 7.40, Uncertain significance, not specified; not provided
- R123L (p.Arg123Leu), ExAC rs745581691, TOPMed rs745581691, gnomAD rs745581691, REVEL 0.24, CADD 6.55, Uncertain significance
- N125D (p.Asn125Asp), Ensembl rs2110815167
- N125S (p.Asn125Ser), TOPMed rs1400807724
- T126A (p.Thr126Ala), ExAC rs778832765, gnomAD rs778832765, REVEL 0.06, CADD 7.39
- T126I (p.Thr126Ile), Ensembl rs1730761166, REVEL 0.06, CADD 10.80
- T126S (p.Thr126Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N128L (p.Asn128Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N128Y (p.Asn128Tyr), ExAC rs757242809, TOPMed rs757242809, gnomAD rs757242809, REVEL 0.14, CADD 9.44
- R129* (p.Arg129Ter), cosmic curated COSV57393, ExAC rs781289913, TOPMed rs781289913, gnomAD rs781289913, CADD 36.00
- R129G (p.Arg129Gly), ExAC rs781289913, TOPMed rs781289913, gnomAD rs781289913, REVEL 0.40, CADD 23.20
- R129P (p.Arg129Pro), UniProt VAR 072722, Pathogenic, in CAFBN
- R129Q (p.Arg129Gln), TOPMed rs1404099927, REVEL 0.17, CADD 8.20
Public FGA analysis runs
- FGA analysis run — FGA (1,569 variants) — completed 2026-08-19