F13A1 (Coagulation factor XIII A chain) variants and mutations
F13A1 (also known as Coagulation factor XIII A chain) is a human protein-coding gene encoding a coagulation factor XIII A chain protein. After thrombin activation, it crosslinks fibrin strands and other proteins to stabilize the newly formed blood clot. Biallelic deficiency causes severe bleeding with poor wound healing and a characteristic risk of delayed bleeding and intracranial hemorrhage. This analysis covers 1,133 F13A1 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes Factor XIII subunit A deficiency, factor XIII, A subunit, deficiency of, and congenital factor XIII deficiency. Example F13A1 variants include S2A, S2L, and S2P.
Variant analysis overview
- Gene: F13A1
- Protein: Coagulation factor XIII A chain
- UniProt accession: P00488
- Organism: Homo sapiens
- Variants analyzed: 1133
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 893 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 105 missense variants; 108 synonymous variants; 4 stop-gained variants; 11 frameshift variants; 4 splice-region variants; 5 in-frame deletions; 1 in-frame insertions
- Prediction scores: 1,058 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Factor XIII subunit A deficiency, factor XIII, A subunit, deficiency of, congenital factor XIII deficiency, thrombophilia due to thrombin defect, hemorrhage, neurodegenerative disease, Rare genetic coagulation disorder, DNA methylation, placental retention, hyperpituitarism, arthropathy, adolescent idiopathic scoliosis.
Protein structure and variant hotspots
- Protein features: 4 binding sites; 2 post-translational modification sites.
- PTM context: 5 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 F13A1 variants
Examples include S2A, S2L, S2P, E3G, R6K, R6M, R6S, T7I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2A (p.Ser2Ala), 1000Genomes rs557825091, ExAC rs557825091, gnomAD rs557825091, REVEL 0.23, MetaLR 0.14
- S2L (p.Ser2Leu), ExAC rs757892043, gnomAD rs757892043, REVEL 0.38, MetaLR 0.24
- S2P (p.Ser2Pro), 1000Genomes rs557825091, ExAC rs557825091, gnomAD rs557825091, REVEL 0.35, MetaLR 0.23
- E3G (p.Glu3Gly), gnomAD rs1758723950, REVEL 0.07, MetaLR 0.02
- R6K (p.Arg6Lys), NCI-TCGA Cosmic COSV5355, Variant assessed as somatic; moderate impact.
- R6M (p.Arg6Met), NCI-TCGA Cosmic COSV5355, Ensembl rs2113207301, Variant assessed as somatic; moderate impact.
- R6S (p.Arg6Ser), TOPMed rs1758723752
- T7I (p.Thr7Ile), rs749947217, NCI-TCGA Cosmic COSV5355, ExAC rs749947217, TOPMed rs749947217, REVEL 0.23, MetaLR 0.14, Variant assessed as somatic; moderate impact.
- A8T (p.Ala8Thr), rs138865075, ClinGen CA3624799, ClinVar RCV001413147, ClinVar RCV002554040, REVEL 0.35, MetaLR 0.10, Likely benign, not provided; Inborn genetic diseases
- A8V (p.Ala8Val), TOPMed rs931241469, gnomAD rs931241469, REVEL 0.25, MetaLR 0.03
- F9S (p.Phe9Ser), TOPMed rs919588838, gnomAD rs919588838, REVEL 0.37, MetaLR 0.36
- G10E (p.Gly10Glu), NCI-TCGA Cosmic COSV5355, Variant assessed as somatic; moderate impact.
- G10R (p.Gly10Arg), Ensembl rs1758723264
- G11D (p.Gly11Asp), Ensembl rs1460578991, MetaLR 0.58, MetaSVM 0.21
- R12G (p.Arg12Gly), ExAC rs763927187, TOPMed rs763927187, gnomAD rs763927187, REVEL 0.57, MetaLR 0.51
- A14T (p.Ala14Thr), NCI-TCGA Cosmic COSV9934, TOPMed rs1758723116, Variant assessed as somatic; moderate impact.
- A14V (p.Ala14Val), rs760607637, ExAC rs760607637, gnomAD rs760607637, REVEL 0.32, MetaLR 0.11, Variant assessed as somatic; moderate impact.
- V15F (p.Val15Phe), ESP rs367893759, ExAC rs367893759, TOPMed rs367893759, gnomAD rs367893759, REVEL 0.26, MetaLR 0.16
- V15I (p.Val15Ile), ESP rs367893759, ExAC rs367893759, TOPMed rs367893759, gnomAD rs367893759, REVEL 0.19, MetaLR 0.14
- P16L (p.Pro16Leu), Ensembl rs2113207207, CADD 2.51, SIFT 1.00
- P16S (p.Pro16Ser), NCI-TCGA Cosmic COSV5355, NCI-TCGA Cosmic COSV5356, Ensembl rs2113207212, REVEL 0.31, MetaLR 0.53, Variant assessed as somatic; moderate impact.
- P17S (p.Pro17Ser), TOPMed rs1758722885, MetaLR 0.15, MetaSVM -0.99
- N18S (p.Asn18Ser), TOPMed rs1423535868, gnomAD rs1423535868, REVEL 0.27, MetaLR 0.48
- S20C (p.Ser20Cys), ExAC rs774246884, TOPMed rs774246884, gnomAD rs774246884, REVEL 0.48, MetaLR 0.54, Uncertain significance, Inborn genetic diseases
- A23E (p.Ala23Glu), ExAC rs763103004, TOPMed rs763103004, gnomAD rs763103004, REVEL 0.26, MetaLR 0.11, Uncertain significance
- A23S (p.Ala23Ser), Ensembl rs868835709, MetaLR 0.02, MetaSVM -0.97
- A23V (p.Ala23Val), rs763103004, NCI-TCGA Cosmic COSV5356, ExAC rs763103004, TOPMed rs763103004, REVEL 0.15, MetaLR 0.02, Uncertain significance, F13A1-related disorder
- D25G (p.Asp25Gly), TOPMed rs1359737567, gnomAD rs1359737567, REVEL 0.25, MetaLR 0.01
- D26G (p.Asp26Gly), NCI-TCGA Cosmic COSV5356, MetaLR 0.04, MetaSVM -1.05, Variant assessed as somatic; moderate impact.
- L27P (p.Leu27Pro), ExAC rs781705895, TOPMed rs781705895, gnomAD rs781705895, REVEL 0.39, MetaLR 0.17
- P28L (p.Pro28Leu), rs1290002388, TOPMed rs1290002388, gnomAD rs1290002388, REVEL 0.40, MetaLR 0.46, Variant assessed as somatic; moderate impact.
- P28S (p.Pro28Ser), Ensembl rs1758722055, MetaLR 0.55, MetaSVM -0.16
- V30M (p.Val30Met), rs1447842650, ClinGen CA362740574, ClinVar RCV000816897, TOPMed rs1447842650, REVEL 0.23, MetaLR 0.16, Uncertain significance, not provided
- E31* (p.Glu31Ter), NCI-TCGA Cosmic COSV5356, Variant assessed as somatic; high impact.
- L32F (p.Leu32Phe), TOPMed rs1407961299, gnomAD rs1407961299, REVEL 0.20, MetaLR 0.20
- Q33H (p.Gln33His), TOPMed rs1426746412, gnomAD rs1426746412, REVEL 0.26, MetaLR 0.02
- Q33K (p.Gln33Lys), ExAC rs747587256, gnomAD rs747587256, REVEL 0.16, MetaLR 0.21
- G34D (p.Gly34Asp), ExAC rs778222128, TOPMed rs778222128, gnomAD rs778222128, MetaLR 0.33, MetaSVM -0.61
- G34V (p.Gly34Val), ExAC rs778222128, TOPMed rs778222128, gnomAD rs778222128, REVEL 0.35, MetaLR 0.29
- V35A (p.Val35Ala), 1000Genomes rs540456397, ExAC rs540456397, gnomAD rs540456397, REVEL 0.25, MetaLR 0.01
- V35L (p.Val35Leu), rs5985, ClinGen CA126636, ClinVar RCV000017996, ClinVar RCV000017997, REVEL 0.22, MetaLR 0.09, Conflicting interpretations, not specified; not provided; Myocardial infarction, protection against
- V35M (p.Val35Met), 1000Genomes rs5985, ESP rs5985, ExAC rs5985, TOPMed rs5985, REVEL 0.16, MetaLR 0.14, Benign
- V36A (p.Val36Ala), rs752589234, ClinGen CA362740535, ClinVar RCV003256599, ExAC rs752589234, REVEL 0.24, MetaLR 0.21, Uncertain significance, Inborn genetic diseases
- V36G (p.Val36Gly), ExAC rs752589234, REVEL 0.29, MetaLR 0.25, Uncertain significance
- V36L (p.Val36Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P37S (p.Pro37Ser), gnomAD rs1457742972, REVEL 0.56, MetaLR 0.56
- P37T (p.Pro37Thr), gnomAD rs1457742972, CADD 13.00, SIFT 0.06
- R38Q (p.Arg38Gln), rs759324596, UniProt VAR 077619, ExAC rs759324596, TOPMed rs759324596, REVEL 0.51, MetaLR 0.46, Pathogenic, in FA13AD
- R38W (p.Arg38Trp), TOPMed rs1328344901, gnomAD rs1328344901, REVEL 0.63, MetaLR 0.53
- G39A (p.Gly39Ala), NCI-TCGA TCGA novel, MetaLR 0.57, MetaSVM 0.15, Variant assessed as somatic; moderate impact.
- G39C (p.Gly39Cys), gnomAD rs1471936838, REVEL 0.62, MetaLR 0.59
- G39D (p.Gly39Asp), TOPMed rs1758721012, REVEL 0.59, MetaLR 0.59
- G39S (p.Gly39Ser), gnomAD rs1471936838, REVEL 0.56, MetaLR 0.59
- V40I (p.Val40Ile), rs3024472, ClinGen CA3624772, ClinVar RCV003931526, ClinVar RCV004696575, REVEL 0.18, MetaLR 0.21, Uncertain significance, not provided; Thrombophilia due to thrombin defect; Factor XIII, A subunit, defi
- N41H (p.Asn41His), Ensembl rs757568910, REVEL 0.09, MetaLR 0.25
- N41K (p.Asn41Lys), gnomAD rs1758720587, REVEL 0.18, MetaLR 0.02
- N41S (p.Asn41Ser), ExAC rs770047613, gnomAD rs770047613, REVEL 0.15, MetaLR 0.03
- L42M (p.Leu42Met), TOPMed rs1265557322, gnomAD rs1265557322
- L42P (p.Leu42Pro), ExAC rs762041584, gnomAD rs762041584, REVEL 0.26, MetaLR 0.13
- Q43* (p.Gln43Ter), ExAC rs776816717, TOPMed rs776816717, gnomAD rs776816717, CADD 33.00
- Q43H (p.Gln43His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E44D (p.Glu44Asp), ESP rs148065753, ExAC rs148065753, TOPMed rs148065753, gnomAD rs148065753, REVEL 0.29, MetaLR 0.01, Likely benign, Inborn genetic diseases
- E44G (p.Glu44Gly), TOPMed rs1388475195, gnomAD rs1388475195, REVEL 0.31, MetaLR 0.06
- F45L (p.Phe45Leu), gnomAD rs1172080141, REVEL 0.18, MetaLR 0.12
- L46I (p.Leu46Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L46P (p.Leu46Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N47H (p.Asn47His), ExAC rs780962981, TOPMed rs780962981, gnomAD rs780962981, REVEL 0.12, MetaLR 0.28
- N47T (p.Asn47Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N47Y (p.Asn47Tyr), ExAC rs780962981, TOPMed rs780962981, gnomAD rs780962981
- V48I (p.Val48Ile), ExAC rs754697772, TOPMed rs754697772, gnomAD rs754697772, REVEL 0.31, MetaLR 0.38
- T49M (p.Thr49Met), 1000Genomes rs143616920, ESP rs143616920, ExAC rs143616920, TOPMed rs143616920, REVEL 0.32, MetaLR 0.34
- S50N (p.Ser50Asn), TOPMed rs1377346666, MetaLR 0.13, MetaSVM -0.98, Likely benign, Inborn genetic diseases
- V51I (p.Val51Ile), rs750361933, ExAC rs750361933, TOPMed rs750361933, gnomAD rs750361933, REVEL 0.12, MetaLR 0.23, Variant assessed as somatic; moderate impact.
- H52Q (p.His52Gln), Ensembl rs2113184266, MetaLR 0.10, MetaSVM -0.98
- F54I (p.Phe54Ile), rs138690353, ClinGen CA3624733, ClinVar RCV000338721, ClinVar RCV000957863, REVEL 0.48, MetaLR 0.31, Conflicting interpretations, Inborn genetic diseases; not provided; Factor XIII, A subunit, deficiency of
- F54L (p.Phe54Leu), 1000Genomes rs138690353, ESP rs138690353, ExAC rs138690353, TOPMed rs138690353, REVEL 0.46, MetaLR 0.19, Benign
- R57G (p.Arg57Gly), TOPMed rs1758500385
- R57K (p.Arg57Lys), TOPMed rs1219765079, MetaLR 0.33, MetaSVM -0.65
- W58L (p.Trp58Leu), NCI-TCGA Cosmic COSV5356, MetaLR 0.30, MetaSVM -0.74, Variant assessed as somatic; moderate impact.
- W58R (p.Trp58Arg), ExAC rs754004931, gnomAD rs754004931, REVEL 0.51, MetaLR 0.32
- D59N (p.Asp59Asn), TOPMed rs914446893, gnomAD rs914446893, REVEL 0.39, MetaLR 0.59, Uncertain significance, Inborn genetic diseases
- N61K (p.Asn61Lys), rs121913067, TOPMed rs121913067, gnomAD rs121913067, ClinGen CA126621, REVEL 0.82, MetaLR 0.27, Pathogenic, Factor XIII, A subunit, deficiency of
- K62N (p.Lys62Asn), rs2113184204, ClinGen CA362742287, ClinVar RCV001420450, Ensembl rs2113184204, AlphaMissense 0.80, MetaLR 0.11, Uncertain significance, Factor XIII, A subunit, deficiency of
- V63A (p.Val63Ala), ExAC rs764420101, gnomAD rs764420101
- V63L (p.Val63Leu), NCI-TCGA Cosmic COSV5355, Variant assessed as somatic; moderate impact.
- D64N (p.Asp64Asn), NCI-TCGA Cosmic COSV9934, MetaLR 0.02, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- T67N (p.Thr67Asn), NCI-TCGA Cosmic COSV5356, MetaLR 0.89, MetaSVM 0.97, Variant assessed as somatic; moderate impact.
- D68N (p.Asp68Asn), NCI-TCGA Cosmic COSV5355, MetaLR 0.12, MetaSVM -0.97, Variant assessed as somatic; moderate impact.
- Y70H (p.Tyr70His), TOPMed rs1758499970, REVEL 0.79, MetaLR 0.76
- E71K (p.Glu71Lys), rs267601095, NCI-TCGA Cosmic COSV5356, Ensembl rs267601095, AlphaMissense 0.11, MetaLR 0.02, Variant assessed as somatic; moderate impact.
- N72K (p.Asn72Lys), gnomAD rs1285216737, REVEL 0.34, MetaLR 0.05
- N73H (p.Asn73His), gnomAD rs1758499802, REVEL 0.12, MetaLR 0.32
- L75R (p.Leu75Arg), gnomAD rs1244093247, REVEL 0.91, MetaLR 0.38
- L75V (p.Leu75Val), TOPMed rs1200131413, gnomAD rs1200131413, REVEL 0.58, MetaLR 0.22
- I76T (p.Ile76Thr), ExAC rs775876960, TOPMed rs775876960, gnomAD rs775876960, REVEL 0.89, MetaLR 0.80
- V77A (p.Val77Ala), NCI-TCGA Cosmic COSV9934, MetaLR 0.83, MetaSVM 0.86, Variant assessed as somatic; moderate impact.
- R78C (p.Arg78Cys), rs760818476, ClinGen CA134400220, NCI-TCGA Cosmic COSV5355, NCI-TCGA Cosmic COSV5356, REVEL 0.93, MetaLR 0.97, Pathogenic, Factor XIII, A subunit, deficiency of
- R78H (p.Arg78His), ExAC rs768024997, TOPMed rs768024997, gnomAD rs768024997, REVEL 0.89, MetaLR 0.97, Likely pathogenic, Factor XIII, A subunit, deficiency of
- R78L (p.Arg78Leu), rs768024997, ClinGen CA362742174, NCI-TCGA Cosmic COSV5355, REVEL 0.89, MetaLR 0.97, Conflicting interpretations, Factor XIII, A subunit, deficiency of
- R78S (p.Arg78Ser), NCI-TCGA Cosmic COSV5355, NCI-TCGA Cosmic COSV5356, Variant assessed as somatic; moderate impact.
- R79* (p.Arg79Ter), rs2480385304, ClinGen CA362742171, ClinVar RCV003313884, Likely pathogenic
- R79K (p.Arg79Lys), rs267601094, NCI-TCGA Cosmic COSV5356, Ensembl rs267601094, AlphaMissense 0.88, MetaLR 0.97, Variant assessed as somatic; moderate impact.
- G80R (p.Gly80Arg), gnomAD rs1166766083, REVEL 0.95, MetaLR 0.95
- F83L (p.Phe83Leu), NCI-TCGA TCGA novel, REVEL 0.81, MetaLR 0.33, Variant assessed as somatic; moderate impact.
- V85A (p.Val85Ala), gnomAD rs1414788255, MetaLR 0.39, MetaSVM -0.40
- V85G (p.Val85Gly), gnomAD rs1414788255, REVEL 0.75, MetaLR 0.47
- Q86E (p.Gln86Glu), gnomAD rs1183395316, REVEL 0.41, MetaLR 0.37
- D88E (p.Asp88Glu), Ensembl rs2113184060
- F89L (p.Phe89Leu), Ensembl rs1050777, MetaLR 0.76, MetaSVM 0.69
- S90G (p.Ser90Gly), TOPMed rs956116816, gnomAD rs956116816, REVEL 0.30, MetaLR 0.35
- S90N (p.Ser90Asn), Ensembl rs2113184026, MetaLR 0.02, MetaSVM -0.99
- S90R (p.Ser90Arg), TOPMed rs956116816, gnomAD rs956116816, REVEL 0.46, MetaLR 0.39
- R91C (p.Arg91Cys), ExAC rs775055566, TOPMed rs775055566, gnomAD rs775055566, REVEL 0.87, MetaLR 0.85
- R91H (p.Arg91His), rs769424362, ExAC rs769424362, TOPMed rs769424362, gnomAD rs769424362, REVEL 0.83, MetaLR 0.45, Variant assessed as somatic; moderate impact.
- R91L (p.Arg91Leu), NCI-TCGA TCGA novel, MetaLR 0.82, MetaSVM 0.81, Variant assessed as somatic; moderate impact.
- D94E (p.Asp94Glu), ExAC rs768303192, TOPMed rs768303192, gnomAD rs768303192, REVEL 0.14, MetaLR 0.03, Uncertain significance, Inborn genetic diseases; not provided
- D94Y (p.Asp94Tyr), rs1203791516, NCI-TCGA Cosmic COSV5356, TOPMed rs1203791516, gnomAD rs1203791516, REVEL 0.47, MetaLR 0.07, Variant assessed as somatic; moderate impact.
- P95L (p.Pro95Leu), ExAC rs746668502, gnomAD rs746668502, REVEL 0.69, MetaLR 0.59
- P95R (p.Pro95Arg), ExAC rs746668502, gnomAD rs746668502, MetaLR 0.60, MetaSVM 0.30
- R97K (p.Arg97Lys), Ensembl rs1758498441, REVEL 0.22, MetaLR 0.08
- D98Y (p.Asp98Tyr), TOPMed rs1399897211, gnomAD rs1399897211, REVEL 0.81, MetaLR 0.83
- L99F (p.Leu99Phe), NCI-TCGA Cosmic COSV5355, NCI-TCGA Cosmic COSV9906, Variant assessed as somatic; moderate impact.
- L99I (p.Leu99Ile), Ensembl rs2113183947, REVEL 0.23, MetaLR 0.22
- F100L (p.Phe100Leu), TOPMed rs1758498212, MetaLR 0.39, MetaSVM -0.40
- R101M (p.Arg101Met), NCI-TCGA TCGA novel, MetaLR 0.31, MetaSVM -0.70, Variant assessed as somatic; moderate impact.
- E103K (p.Glu103Lys), gnomAD rs1758498099, REVEL 0.80, MetaLR 0.38
- Y104* (p.Tyr104Ter), NCI-TCGA Cosmic COSV9934, Variant assessed as somatic; high impact.
- Y104H (p.Tyr104His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V105A (p.Val105Ala), TOPMed rs1326555460, gnomAD rs1326555460, REVEL 0.44, MetaLR 0.43
- V105I (p.Val105Ile), gnomAD rs868565007, REVEL 0.31, MetaLR 0.46, Uncertain significance, Factor XIII, A subunit, deficiency of
- I106T (p.Ile106Thr), rs1306326542, ClinGen CA362741983, ClinVar RCV003361746, gnomAD rs1306326542, REVEL 0.65, MetaLR 0.50, Uncertain significance, Inborn genetic diseases
- R108C (p.Arg108Cys), rs751922706, NCI-TCGA Cosmic COSV5355, ExAC rs751922706, TOPMed rs751922706, REVEL 0.62, MetaLR 0.67, Uncertain significance, Inborn genetic diseases
- R108H (p.Arg108His), rs145761347, ClinGen CA3624687, ClinVar RCV002666344, ESP rs145761347, REVEL 0.38, MetaLR 0.53, Uncertain significance, Inborn genetic diseases
- R108L (p.Arg108Leu), ESP rs145761347, ExAC rs145761347, TOPMed rs145761347, gnomAD rs145761347, REVEL 0.31, MetaLR 0.35, Uncertain significance
- P110T (p.Pro110Thr), rs1173364213, NCI-TCGA Cosmic COSV5355, gnomAD rs1173364213, AlphaMissense 0.81, MetaLR 0.93, Variant assessed as somatic; moderate impact.
- Q111H (p.Gln111His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N113K (p.Asn113Lys), ExAC rs750903866, gnomAD rs750903866, REVEL 0.37, MetaLR 0.28
- K114R (p.Lys114Arg), TOPMed rs1472604597, MetaLR 0.69, MetaSVM 0.42
- G115E (p.Gly115Glu), rs1447248884, NCI-TCGA Cosmic COSV5355, gnomAD rs1447248884, REVEL 0.74, MetaLR 0.79, Variant assessed as somatic; moderate impact.
- G115R (p.Gly115Arg), ExAC rs763649812, TOPMed rs763649812, gnomAD rs763649812, REVEL 0.61, MetaLR 0.72
- G115V (p.Gly115Val), gnomAD rs1447248884, MetaLR 0.83, MetaSVM 0.82
- T116I (p.Thr116Ile), ExAC rs771763854, TOPMed rs771763854, gnomAD rs771763854, REVEL 0.94, MetaLR 0.86, Uncertain significance
- T116N (p.Thr116Asn), rs771763854, ClinGen CA3624681, ClinVar RCV003211761, ExAC rs771763854, REVEL 0.85, MetaLR 0.86, Uncertain significance, Inborn genetic diseases
- I118T (p.Ile118Thr), ExAC rs759210544, gnomAD rs759210544, REVEL 0.80, MetaLR 0.74
- V120A (p.Val120Ala), gnomAD rs1185244838, REVEL 0.65, MetaLR 0.72
- V120L (p.Val120Leu), ExAC rs774094090, gnomAD rs774094090, REVEL 0.38, MetaLR 0.45
- V120M (p.Val120Met), ExAC rs774094090, gnomAD rs774094090, REVEL 0.48, MetaLR 0.68
- I122K (p.Ile122Lys), ExAC rs777638115, TOPMed rs777638115, gnomAD rs777638115
- I122M (p.Ile122Met), Ensembl rs2113124065, MetaLR 0.10, MetaSVM -0.97
- I122T (p.Ile122Thr), ExAC rs777638115, TOPMed rs777638115, gnomAD rs777638115, REVEL 0.44, MetaLR 0.43
- I122V (p.Ile122Val), ESP rs142064728, ExAC rs142064728, gnomAD rs142064728, REVEL 0.18, MetaLR 0.10
- S124* (p.Ser124Ter), NCI-TCGA TCGA novel, CADD 35.00, Variant assessed as somatic; high impact.
- S124P (p.Ser124Pro), Ensembl rs1757851110
- E125D (p.Glu125Asp), ESP rs147577601, ExAC rs147577601, gnomAD rs147577601, MetaLR 0.40, MetaSVM -0.30
- L126F (p.Leu126Phe), ExAC rs748285860, gnomAD rs748285860, REVEL 0.20, MetaLR 0.15
- Q127* (p.Gln127Ter), ESP rs150249786, ExAC rs150249786
- Q127R (p.Gln127Arg), gnomAD rs1050673198, REVEL 0.17, MetaLR 0.25
- S128R (p.Ser128Arg), Ensembl rs376635947
- G129* (p.Gly129Ter), NCI-TCGA Cosmic COSV5356, Variant assessed as somatic; high impact.
- G129A (p.Gly129Ala), TOPMed rs1300973507, gnomAD rs1300973507, REVEL 0.35, MetaLR 0.54
- G129E (p.Gly129Glu), NCI-TCGA Cosmic COSV5356, TOPMed rs1300973507, gnomAD rs1300973507, REVEL 0.39, MetaLR 0.65, Variant assessed as somatic; moderate impact.
- G129R (p.Gly129Arg), rs755208423, ClinGen CA3624672, ClinVar RCV003370355, ExAC rs755208423, REVEL 0.47, MetaLR 0.73, Uncertain significance, Inborn genetic diseases
- K130N (p.Lys130Asn), ExAC rs780404652, gnomAD rs780404652, REVEL 0.38, MetaLR 0.36
- K130T (p.Lys130Thr), Ensembl rs1320974899, MetaLR 0.27, MetaSVM -0.85
- W131* (p.Trp131Ter), rs932213198, NCI-TCGA Cosmic COSV9934, TOPMed rs932213198, gnomAD rs932213198, CADD 38.00, Variant assessed as somatic; high impact.
- W131S (p.Trp131Ser), TOPMed rs932213198, gnomAD rs932213198, REVEL 0.92, MetaLR 0.95
- A133D (p.Ala133Asp), TOPMed rs1236867771, gnomAD rs1236867771
- A133P (p.Ala133Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A133S (p.Ala133Ser), 1000Genomes rs141030077, ExAC rs141030077, TOPMed rs141030077, gnomAD rs141030077, REVEL 0.52, MetaLR 0.68
- A133V (p.Ala133Val), TOPMed rs1236867771, gnomAD rs1236867771, REVEL 0.63, MetaLR 0.70
- I135V (p.Ile135Val), Ensembl rs1243622825, MetaLR 0.42, MetaSVM 0.00
- V136F (p.Val136Phe), TOPMed rs1282004652
- M137T (p.Met137Thr), Ensembl rs1194870595, REVEL 0.23, MetaLR 0.10
- R138G (p.Arg138Gly), gnomAD rs1424720526, REVEL 0.31, MetaLR 0.34
- R138I (p.Arg138Ile), 1000Genomes rs202087752, ExAC rs202087752, TOPMed rs202087752, gnomAD rs202087752, REVEL 0.30, MetaLR 0.17
- R138K (p.Arg138Lys), 1000Genomes rs202087752, ExAC rs202087752, TOPMed rs202087752, gnomAD rs202087752, REVEL 0.26, MetaLR 0.11
- R138T (p.Arg138Thr), 1000Genomes rs202087752, ExAC rs202087752, TOPMed rs202087752, gnomAD rs202087752, MetaLR 0.12, MetaSVM -0.96
- E139K (p.Glu139Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E139Q (p.Glu139Gln), TOPMed rs1439029722, gnomAD rs1439029722, REVEL 0.24, MetaLR 0.35
- D140G (p.Asp140Gly), gnomAD rs1485613814, REVEL 0.11, MetaLR 0.14
Public F13A1 analysis runs
- F13A1 analysis run — F13A1 (1,133 variants) — completed 2026-08-19