F10 (Coagulation factor X) variants and mutations
F10 (also known as Coagulation factor X) is a human protein-coding gene encoding a coagulation factor X protein. After activation to factor Xa, it converts prothrombin to thrombin within the prothrombinase complex and therefore occupies a central position in the coagulation cascade. Biallelic deficiency causes a rare bleeding disorder, while factor Xa is a major target of direct oral anticoagulants. This analysis covers 766 F10 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes factor X deficiency, congenital factor X deficiency, and venous thromboembolism. Example F10 variants include G2E, G2V, and G2W.
Variant analysis overview
- Gene: F10
- Protein: Coagulation factor X
- UniProt accession: P00742
- Organism: Homo sapiens
- Variants analyzed: 766
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 579 unspecified-consequence records; 95 missense variants; 59 synonymous variants; 14 frameshift variants; 5 stop-gained variants; 4 splice-region variants; 3 in-frame deletions; 2 in-frame insertions; 5 substitution
- Prediction scores: 598 variants have prediction scores (78% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: factor X deficiency, congenital factor X deficiency, venous thromboembolism, pulmonary embolism, atrial fibrillation, deep vein thrombosis, Stroke, hemophilia A, stroke disorder, thrombotic disease, ischemic stroke, acute coronary syndrome.
Protein structure and variant hotspots
- Protein features: 4 domains; 16 post-translational modification sites.
- Structural context: 541 variants have structural context.
- PTM context: 37 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 F10 variants
Examples include G2E, G2V, G2W, G2R, G2G, R3C, R3H, R3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- G2E (p.Gly2Glu), ExAC rs772338742, TOPMed rs772338742, gnomAD rs772338742
- G2V (p.Gly2Val), ExAC rs772338742, TOPMed rs772338742, gnomAD rs772338742, REVEL 0.14, CADD 10.20
- G2W (p.Gly2Trp), gnomAD 13-113122859-G-T, REVEL 0.32, CADD 22.70
- G2R (p.Gly2Arg), gnomAD 13-113122859-G-A, REVEL 0.24, CADD 18.10
- G2G (p.Gly2Gly), gnomAD 13-113122861-G-A, CADD 2.33
- R3C (p.Arg3Cys), rs149972574, ClinGen CA7060306, ClinVar RCV000351469, 1000Genomes rs149972574, REVEL 0.12, CADD 11.40, Uncertain significance, Hereditary factor X deficiency disease
- R3H (p.Arg3His), rs1026200798, NCI-TCGA Cosmic COSV6064, cosmic curated COSV60647, 1000Genomes rs1026200798, REVEL 0.17, CADD 8.71, Variant assessed as somatic; moderate impact.
- R3L (p.Arg3Leu), 1000Genomes rs1026200798, TOPMed rs1026200798, gnomAD rs1026200798, REVEL 0.19, CADD 7.95
- R3G (p.Arg3Gly), gnomAD 13-113122862-C-G, REVEL 0.15, CADD 6.98
- R3R (p.Arg3Arg), rs375367218, gnomAD 13-113122864-C-T, CADD 4.83
- P4H (p.Pro4His), rs758550534, gnomAD 13-113122863-GC-G, CADD 14.20
- P4L (p.Pro4Leu), gnomAD 13-113122866-C-T, REVEL 0.21, CADD 0.00
- P4P (p.Pro4Pro), rs769138821, gnomAD 13-113122867-A-G, CADD 1.80
- L5L (p.Leu5Leu), gnomAD 13-113122868-C-T, CADD 6.06
- H6R (p.His6Arg), gnomAD rs1328835476, REVEL 0.18, CADD 0.13
- H6Y (p.His6Tyr), gnomAD 13-113122871-C-T, REVEL 0.19, CADD 0.01
- H6N (p.His6Asn), gnomAD 13-113122871-C-A, REVEL 0.17, CADD 0.06
- H6H (p.His6His), gnomAD 13-113122873-C-T, CADD 3.38
- L7I (p.Leu7Ile), rs5963, UniProt VAR 014162, ESP rs5963, ExAC rs5963, REVEL 0.57, CADD 19.00
- L7L (p.Leu7Leu), rs765863253, gnomAD 13-113122876-C-T, CADD 1.64
- V8I (p.Val8Ile), ESP rs372884946, ExAC rs372884946, TOPMed rs372884946, gnomAD rs372884946, REVEL 0.16, CADD 0.13
- V8L (p.Val8Leu), ESP rs372884946, ExAC rs372884946, TOPMed rs372884946, gnomAD rs372884946, REVEL 0.17, CADD 0.75
- V8F (p.Val8Phe), gnomAD 13-113122877-G-T, REVEL 0.62, CADD 1.12
- L9L (p.Leu9Leu), rs2036332744, gnomAD 13-113122882-G-A, CADD 6.09
- L10F (p.Leu10Phe), rs2142244681, ClinGen CA388787303, ClinVar RCV001420383, Ensembl rs2142244681, AlphaMissense 0.09, MetaLR 0.84, Uncertain significance, Factor X deficiency
- L10S (p.Leu10Ser), gnomAD 13-113122881-TG-T, CADD 22.70
- L10L (p.Leu10Leu), gnomAD 13-113122885-C-T, CADD 7.26
- S11G (p.Ser11Gly), Ensembl rs1566913591, REVEL 0.19, CADD 0.10
- S11I (p.Ser11Ile), rs375632041, ClinGen CA7060315, ClinVar RCV004385768, ESP rs375632041, REVEL 0.23, CADD 8.28, Uncertain significance, Inborn genetic diseases
- S11N (p.Ser11Asn), ESP rs375632041, ExAC rs375632041, TOPMed rs375632041, gnomAD rs375632041, REVEL 0.23, CADD 7.07, Uncertain significance
- S11R (p.Ser11Arg), Ensembl rs1566913591
- S11C (p.Ser11Cys), gnomAD 13-113122886-A-T, REVEL 0.25, CADD 0.27
- S11S (p.Ser11Ser), rs1270373847, gnomAD 13-113122888-T-C, CADD 1.41
- A12S (p.Ala12Ser), gnomAD 13-113122889-G-T, REVEL 0.26, CADD 4.67
- A12T (p.Ala12Thr), gnomAD 13-113122889-G-A, REVEL 0.21, CADD 3.98
- A12V (p.Ala12Val), gnomAD 13-113122890-C-T, REVEL 0.10, CADD 1.88
- A12D (p.Ala12Asp), gnomAD 13-113122890-C-A, REVEL 0.39, CADD 12.70
- A12A (p.Ala12Ala), rs1254124442, gnomAD 13-113122891-C-A, CADD 5.32
- S13F (p.Ser13Phe), NCI-TCGA Cosmic COSV6064, cosmic curated COSV60645, Variant assessed as somatic; moderate impact.
- S13C (p.Ser13Cys), gnomAD 13-113122893-C-G, REVEL 0.37, CADD 6.89
- L14W (p.Leu14Trp), gnomAD 13-113122892-TC-T, CADD 15.40
- L14T (p.Leu14Thr), rs1439801244, gnomAD 13-113122894-C-CA, CADD 21.90
- L14L (p.Leu14Leu), rs1015960957, gnomAD 13-113122897-G-T, CADD 7.79
- A15D (p.Ala15Asp), ExAC rs767484560, gnomAD rs767484560, REVEL 0.61, CADD 16.40
- A15T (p.Ala15Thr), Ensembl rs2142244710, REVEL 0.29, CADD 17.10
- A15C (p.Ala15Cys), gnomAD 13-113122897-G-GT, CADD 25.00
- A15S (p.Ala15Ser), gnomAD 13-113122898-G-T, REVEL 0.24, CADD 16.90
- A15G (p.Ala15Gly), gnomAD 13-113122899-C-G, REVEL 0.27, CADD 16.90
- A15A (p.Ala15Ala), gnomAD 13-113122900-T-A, CADD 1.89
- G16C (p.Gly16Cys), gnomAD 13-113122901-G-T, REVEL 0.34, CADD 10.20
- G16S (p.Gly16Ser), gnomAD 13-113122901-G-A, REVEL 0.29, CADD 6.48
- G16V (p.Gly16Val), gnomAD 13-113122902-G-T, REVEL 0.30, CADD 16.40
- G16D (p.Gly16Asp), gnomAD 13-113122902-G-A, REVEL 0.37, CADD 17.00
- G16G (p.Gly16Gly), gnomAD 13-113122903-C-A, CADD 7.82
- L17F (p.Leu17Phe), NCI-TCGA TCGA novel, REVEL 0.38, CADD 16.70, Variant assessed as somatic; moderate impact.
- L17L (p.Leu17Leu), gnomAD 13-113122906-C-G, CADD 2.98
- L18L (p.Leu18Leu), gnomAD 13-113122909-G-T, CADD 5.65
- L19M (p.Leu19Met), Ensembl rs2036333052, REVEL 0.46, CADD 12.10
- L19L (p.Leu19Leu), gnomAD 13-113122910-C-T, CADD 6.17
- L19Q (p.Leu19Gln), gnomAD 13-113122911-T-A, REVEL 0.51, CADD 9.26
- L20F (p.Leu20Phe), gnomAD rs1178574775, REVEL 0.20, CADD 9.77
- L20P (p.Leu20Pro), ExAC rs756166351, gnomAD rs756166351, REVEL 0.23, CADD 9.98
- L20L (p.Leu20Leu), gnomAD 13-113122915-C-G, CADD 0.22
- G21A (p.Gly21Ala), ExAC rs757309231, TOPMed rs757309231, gnomAD rs757309231, REVEL 0.20, CADD 10.50
- G21E (p.Gly21Glu), cosmic curated COSV10591, ExAC rs757309231, TOPMed rs757309231, gnomAD rs757309231
- G21R (p.Gly21Arg), rs753790195, ClinGen CA7060320, ClinVar RCV000012838, ClinVar RCV002284169, REVEL 0.52, CADD 22.40, Pathogenic, not provided
- G21W (p.Gly21Trp), gnomAD 13-113122916-G-T, REVEL 0.43, CADD 24.30
- G21V (p.Gly21Val), gnomAD 13-113122917-G-T, REVEL 0.30, CADD 14.00
- G21G (p.Gly21Gly), rs2142244751, gnomAD 13-113122918-G-T, CADD 6.88
- E22G (p.Glu22Gly), ExAC rs778995263, TOPMed rs778995263, gnomAD rs778995263, REVEL 0.19, CADD 7.83
- E22K (p.Glu22Lys), cosmic curated COSV60645, TOPMed rs2036333364
- E22* (p.Glu22Ter), gnomAD 13-113122919-G-T, CADD 37.00
- S23N (p.Ser23Asn), gnomAD 13-113122923-G-A, REVEL 0.27, CADD 13.80
- S23I (p.Ser23Ile), gnomAD 13-113122923-G-T, REVEL 0.43, CADD 23.10
- L24P (p.Leu24Pro), Ensembl rs372382600, REVEL 0.64, CADD 23.20
- L24L (p.Leu24Leu), rs1307021985, gnomAD 13-113122925-C-T, CADD 8.65
- F25L (p.Phe25Leu), gnomAD 13-113129456-C-A, REVEL 0.62, MetaLR 0.94
- I26S (p.Ile26Ser), TOPMed rs2036405117, gnomAD rs2036405117, REVEL 0.29, CADD 17.30, Uncertain significance
- I26T (p.Ile26Thr), rs2036405117, ClinGen CA388787409, ClinVar RCV003272200, TOPMed rs2036405117, REVEL 0.27, CADD 11.70, Uncertain significance, Inborn genetic diseases
- R27C (p.Arg27Cys), cosmic curated COSV65021, TOPMed rs1041970620, gnomAD rs1041970620, REVEL 0.32, CADD 16.60
- R27H (p.Arg27His), rs1263735827, ClinGen CA388787413, NCI-TCGA Cosmic COSV6502, REVEL 0.34, CADD 0.50, Uncertain significance, Factor X deficiency
- R28S (p.Arg28Ser), rs1212018525, ClinGen CA388787422, ClinVar RCV001420412, TOPMed rs1212018525, REVEL 0.33, CADD 5.87, Uncertain significance, Factor X deficiency
- R28T (p.Arg28Thr), gnomAD rs2036405261, REVEL 0.41, CADD 4.80, Uncertain significance, Inborn genetic diseases
- R28K (p.Arg28Lys), gnomAD 13-113129464-G-A, REVEL 0.14, MetaLR 0.67
- E29K (p.Glu29Lys), cosmic curated COSV65021, TOPMed rs1488263286, REVEL 0.28, CADD 15.90
- E29Q (p.Glu29Gln), TOPMed rs1488263286, REVEL 0.32, CADD 15.20
- E29E (p.Glu29Glu), rs1449584147, gnomAD 13-113129468-G-A, CADD 0.15
- Q30E (p.Gln30Glu), gnomAD rs1187424434, REVEL 0.22, CADD 2.75
- Q30H (p.Gln30His), rs5961, ClinGen CA7060350, ClinVar RCV000368932, ClinVar RCV000881749, REVEL 0.30, CADD 0.00, Benign, not provided; Hereditary factor X deficiency disease
- Q30R (p.Gln30Arg), rs2142252077, ClinGen CA388787436, ClinVar RCV001420413, Ensembl rs2142252077, AlphaMissense 0.07, MetaLR 0.54, Uncertain significance, Factor X deficiency
- A31D (p.Ala31Asp), TOPMed rs2036405539
- A31A (p.Ala31Ala), rs1446095911, gnomAD 13-113129474-C-T, CADD 5.46
- N32S (p.Asn32Ser), gnomAD 13-113129476-A-G, REVEL 0.27, MetaLR 0.68
- N32N (p.Asn32Asn), rs147925826, gnomAD 13-113129477-C-T, CADD 4.82
- N33S (p.Asn33Ser), gnomAD rs1293344292, REVEL 0.12, CADD 0.00
- N33del (p.Asn33del), rs2036405601, gnomAD 13-113129473-CCAA, CADD 6.17
- L35P (p.Leu35Pro), Ensembl rs920680221, Uncertain significance, Inborn genetic diseases
- L35R (p.Leu35Arg), gnomAD 13-113129485-T-G, REVEL 0.80, MetaLR 0.96
- L35L (p.Leu35Leu), rs1369479200, gnomAD 13-113129486-G-C, CADD 4.31
- A36E (p.Ala36Glu), rs2036405879, ClinGen CA388787473, ClinVar RCV001420414, Ensembl rs2036405879, REVEL 0.22, CADD 0.00, Uncertain significance, Factor X deficiency
- A36P (p.Ala36Pro), ESP rs368535920, ExAC rs368535920, TOPMed rs368535920, gnomAD rs368535920, REVEL 0.40, CADD 0.42
- A36T (p.Ala36Thr), ESP rs368535920, ExAC rs368535920, TOPMed rs368535920, gnomAD rs368535920, REVEL 0.18, CADD 0.07
- A36V (p.Ala36Val), NCI-TCGA Cosmic COSV6502, cosmic curated COSV65023, Ensembl rs2036405879, REVEL 0.15, CADD 0.05, Uncertain significance
- A36A (p.Ala36Ala), gnomAD 13-113129489-G-A, CADD 3.88
- R37G (p.Arg37Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R37R (p.Arg37Arg), rs115112448, gnomAD 13-113129492-G-A, CADD 1.45
- V38L (p.Val38Leu), gnomAD rs1387742699, REVEL 0.20, CADD 0.20
- V38V (p.Val38Val), gnomAD 13-113129495-C-T, CADD 1.82
- T39K (p.Thr39Lys), ExAC rs775307863, TOPMed rs775307863, gnomAD rs775307863, REVEL 0.24, CADD 2.71
- T39M (p.Thr39Met), ExAC rs775307863, TOPMed rs775307863, gnomAD rs775307863, REVEL 0.50, CADD 11.00
- T39P (p.Thr39Pro), 1000Genomes rs188917950, ExAC rs188917950, TOPMed rs188917950, gnomAD rs188917950, REVEL 0.27, CADD 14.30
- T39T (p.Thr39Thr), rs371972257, gnomAD 13-113129498-G-A, CADD 1.72
- R40T (p.Arg40Thr), rs2503081410, ClinGen CA388787496, ClinVar RCV003313859, Likely pathogenic, Hereditary factor X deficiency disease
- R40S (p.Arg40Ser), gnomAD 13-113129501-G-C, REVEL 0.66, MetaLR 0.99
- A41T (p.Ala41Thr), NCI-TCGA Cosmic COSV6502, cosmic curated COSV65023, REVEL 0.66, CADD 23.30, Variant assessed as somatic; moderate impact.
- A41V (p.Ala41Val), Ensembl rs2036406187, REVEL 0.59, CADD 22.30
- N42S (p.Asn42Ser), ESP rs143816428, ExAC rs143816428
- N42N (p.Asn42Asn), rs2036406262, gnomAD 13-113129507-T-C, CADD 3.31
- S43F (p.Ser43Phe), gnomAD 13-113129509-C-T, REVEL 0.63, MetaLR 0.99
- F44L (p.Phe44Leu), ExAC rs768578499, gnomAD rs768578499, REVEL 0.32, CADD 1.25
- F44F (p.Phe44Phe), gnomAD 13-113129513-T-C, CADD 1.76
- L45I (p.Leu45Ile), NCI-TCGA Cosmic COSV6502, cosmic curated COSV65021, Variant assessed as somatic; moderate impact.
- L45P (p.Leu45Pro), ExAC rs776481640, TOPMed rs776481640, gnomAD rs776481640, REVEL 0.56, CADD 20.20
- E46K (p.Glu46Lys), gnomAD 13-113129516-TG-T, CADD 27.80
- E47G (p.Glu47Gly), rs121964943, ClinGen CA7060359, ClinVar RCV000012843, UniProt VAR 065428, REVEL 0.94, CADD 26.50, Pathogenic, Factor X deficiency
- M48L (p.Met48Leu), rs201731360, ClinGen CA7060360, ClinVar RCV001111335, ClinVar RCV004032163, REVEL 0.29, CADD 0.00, Conflicting interpretations, Hereditary factor X deficiency disease; Inborn genetic diseases
- M48T (p.Met48Thr), ExAC rs750510185, REVEL 0.40, CADD 13.40
- M48V (p.Met48Val), NCI-TCGA Cosmic COSV6502, cosmic curated COSV65021, Variant assessed as somatic; moderate impact.
- M48R (p.Met48Arg), gnomAD 13-113129524-T-G, REVEL 0.44, MetaLR 0.94
- K49K (p.Lys49Lys), rs763041305, gnomAD 13-113129528-G-A, CADD 6.77
- K50E (p.Lys50Glu), ExAC rs766388026, gnomAD rs766388026, REVEL 0.60, CADD 19.00
- K50del (p.Lys50del), rs1362205928, gnomAD 13-113129524-TGAA, CADD 16.00
- K50T (p.Lys50Thr), gnomAD 13-113129530-A-C, REVEL 0.64, MetaLR 0.97
- G51E (p.Gly51Glu), rs751782758, ClinGen CA388787571, ClinVar RCV001420415, ExAC rs751782758, AlphaMissense 0.42, MetaLR 1.00, Uncertain significance, Factor X deficiency
- G51R (p.Gly51Arg), NCI-TCGA Cosmic COSV6502, cosmic curated COSV65023, Variant assessed as somatic; moderate impact., in FA10D
- G51V (p.Gly51Val), rs751782758, UniProt VAR 065429, ExAC rs751782758, gnomAD rs751782758, REVEL 0.96, AlphaMissense 0.42, Pathogenic, in FA10D
- G51G (p.Gly51Gly), gnomAD 13-113129534-A-G, CADD 0.88
- H52N (p.His52Asn), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- H52Y (p.His52Tyr), ExAC rs755187056, TOPMed rs755187056, gnomAD rs755187056, REVEL 0.34, CADD 15.00
- H52R (p.His52Arg), gnomAD 13-113129536-A-G, REVEL 0.46, MetaLR 0.89
- H52H (p.His52His), rs1462266879, gnomAD 13-113129537-C-T, CADD 5.50
- L53F (p.Leu53Phe), Ensembl rs2142252384
- L53V (p.Leu53Val), gnomAD 13-113129538-C-G, REVEL 0.68, MetaLR 0.99
- L53P (p.Leu53Pro), gnomAD 13-113129539-T-C, REVEL 0.85, MetaLR 1.00
- L53L (p.Leu53Leu), gnomAD 13-113129540-C-A, CADD 0.34
- E54* (p.Glu54Ter), TOPMed rs121964939, CADD 36.00, Likely pathogenic, in FA10D
- E54G (p.Glu54Gly), rs121964944, ClinGen CA7060367, ClinVar RCV000852044, ClinVar RCV001824369, REVEL 0.94, CADD 25.20, Likely pathogenic, Hereditary factor X deficiency disease
- E54K (p.Glu54Lys), rs121964939, ClinGen CA256471553, NCI-TCGA Cosmic COSV6502, cosmic curated COSV65021, REVEL 0.76, CADD 24.20, Conflicting interpretations, Factor X deficiency; Hereditary factor X deficiency disease
- E54Q (p.Glu54Gln), TOPMed rs121964939, Likely pathogenic, in FA10D
- R55K (p.Arg55Lys), ExAC rs753080446, TOPMed rs753080446, gnomAD rs753080446, REVEL 0.81, CADD 24.40
- R55R (p.Arg55Arg), rs2142252417, gnomAD 13-113129544-A-C, CADD 5.72
- R55T (p.Arg55Thr), gnomAD 13-113129545-G-C, REVEL 0.87, MetaLR 0.99
- E56G (p.Glu56Gly), rs2503081595, ClinGen CA388787602, ClinVar RCV003445228, Likely pathogenic, Hereditary factor X deficiency disease
- E56K (p.Glu56Lys), ExAC rs756615469, gnomAD rs756615469, REVEL 0.90, CADD 25.90
- E56V (p.Glu56Val), rs749213415, gnomAD 13-113129541-GAA-, CADD 24.60
- E56Q (p.Glu56Gln), gnomAD 13-113129547-G-C, REVEL 0.83, MetaLR 1.00
- E56E (p.Glu56Glu), gnomAD 13-113129549-G-A, CADD 5.35
- C57F (p.Cys57Phe), TOPMed rs1338921795
- C57Y (p.Cys57Tyr), TOPMed rs1338921795, REVEL 0.88, CADD 25.30
- M58I (p.Met58Ile), rs1414570095, ClinGen CA388787619, ClinVar RCV002742126, gnomAD rs1414570095, REVEL 0.33, CADD 7.94, Uncertain significance, Inborn genetic diseases
- M58K (p.Met58Lys), TOPMed rs1435923649, gnomAD rs1435923649, REVEL 0.37, CADD 7.00
- M58T (p.Met58Thr), TOPMed rs1435923649, gnomAD rs1435923649, REVEL 0.34, CADD 5.43
- M58V (p.Met58Val), gnomAD 13-113129553-A-G, REVEL 0.29, MetaLR 0.79
- E59A (p.Glu59Ala), ExAC rs778379668, gnomAD rs778379668, REVEL 0.94, CADD 25.50
- E59K (p.Glu59Lys), gnomAD 13-113129556-G-A, REVEL 0.90, MetaLR 0.99
- E60K (p.Glu60Lys), ExAC rs749713392, gnomAD rs749713392, REVEL 0.87, CADD 26.30
- E60E (p.Glu60Glu), rs367582815, gnomAD 13-113129561-G-A, CADD 6.43
- E60D (p.Glu60Asp), gnomAD 13-113129561-G-C, REVEL 0.74, MetaLR 1.00
- T61P (p.Thr61Pro), Ensembl rs2036407182, REVEL 0.41, CADD 15.40
- T61A (p.Thr61Ala), gnomAD 13-113129562-A-G, REVEL 0.22, MetaLR 0.88
- T61S (p.Thr61Ser), gnomAD 13-113129562-A-T, REVEL 0.32, MetaLR 0.85
- T61T (p.Thr61Thr), rs779647178, gnomAD 13-113129564-C-G, CADD 0.36
- C62S (p.Cys62Ser), ExAC rs746726549, gnomAD rs746726549, REVEL 0.88, CADD 24.60
- C62Y (p.Cys62Tyr), NCI-TCGA Cosmic COSV6502, cosmic curated COSV65023, Variant assessed as somatic; moderate impact.
- C62R (p.Cys62Arg), gnomAD 13-113129565-T-C, REVEL 0.87, MetaLR 1.00
- S63* (p.Ser63Ter), TOPMed rs1378757283, gnomAD rs1378757283, CADD 33.00
- S63L (p.Ser63Leu), TOPMed rs1378757283, gnomAD rs1378757283, REVEL 0.49, CADD 21.30
- S63S (p.Ser63Ser), gnomAD 13-113129570-A-T, CADD 0.41
- Y64* (p.Tyr64Ter), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, CADD 27.40, Variant assessed as somatic; high impact.
- Y64H (p.Tyr64His), gnomAD rs1394460845, REVEL 0.39, CADD 13.80
Public F10 analysis runs
- F10 analysis run — F10 (766 variants) — completed 2026-08-19