PROC (Vitamin K-dependent protein C) variants and mutations
PROC (also known as Vitamin K-dependent protein C) is a human protein-coding gene encoding a vitamin K-dependent protein C protein. After activation, protein C limits coagulation by proteolytically inactivating factors Va and VIIIa with protein S as a cofactor. Heterozygous deficiency increases venous-thrombosis risk, while severe biallelic deficiency can cause neonatal purpura fulminans. This analysis covers 880 PROC variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes hereditary thrombophilia due to congenital protein C deficiency, venous thromboembolism, and deep vein thrombosis. Example PROC variants include M1?, W2*, and Q3P.
Variant analysis overview
- Gene: PROC
- Protein: Vitamin K-dependent protein C
- UniProt accession: P04070
- Organism: Homo sapiens
- Variants analyzed: 880
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 603 unspecified-consequence records; 6 stop-gained variants; 83 synonymous variants; 30 frameshift variants; 134 missense variants; 7 splice-region variants; 4 in-frame deletions; 1 protein altering variant; 2 in-frame insertions; 10 substitution
- Prediction scores: 699 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hereditary thrombophilia due to congenital protein C deficiency, venous thromboembolism, deep vein thrombosis, thrombophilia due to protein C deficiency, autosomal dominant, protein c deficiency, thrombophilia due to protein C deficiency, autosomal recessive, phlebitis, Thrombophlebitis, Abnormal thrombosis, thrombophilia, blood coagulation disease, Portal vein thrombosis.
Protein structure and variant hotspots
- Protein features: 4 domains; 16 post-translational modification sites.
- Structural context: 689 variants have structural context.
- PTM context: 36 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 PROC variants
Examples include M1?, W2*, Q3P, Q3*, Q3Q, L4L, T5R, S6I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV9930, cosmic curated COSV99300, Variant assessed as somatic; high impact.
- W2* (p.Trp2Ter), rs2468318751, ClinGen CA348397267, ClinVar RCV003496095, Pathogenic
- Q3P (p.Gln3Pro), NCI-TCGA Cosmic COSV5216, cosmic curated COSV52167, Variant assessed as somatic; moderate impact.
- Q3* (p.Gln3Ter), gnomAD 2-127419949-C-T, CADD 37.00
- Q3Q (p.Gln3Gln), gnomAD 2-127419951-G-A, CADD 3.00
- L4L (p.Leu4Leu), rs750696079, gnomAD 2-127419954-C-T, CADD 3.47
- T5R (p.Thr5Arg), Ensembl rs759805372, REVEL 0.42, CADD 6.84
- S6I (p.Ser6Ile), Ensembl rs950467099
- S6N (p.Ser6Asn), Ensembl rs950467099
- S6S (p.Ser6Ser), gnomAD 2-127419960-C-T, CADD 7.70
- L7F (p.Leu7Phe), ExAC rs758494619, gnomAD rs758494619
- L7P (p.Leu7Pro), rs2468318825, ClinGen CA348397343, ClinVar RCV003496651, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- L7L (p.Leu7Leu), gnomAD 2-127419963-C-T, CADD 5.54
- L8A (p.Leu8Ala), rs1375703057, gnomAD 2-127419963-CCT-C, CADD 23.10
- L8L (p.Leu8Leu), gnomAD 2-127419966-G-C, CADD 3.21
- L9L (p.Leu9Leu), gnomAD 2-127419967-C-T, CADD 10.10
- F10F (p.Phe10Phe), rs148490199, gnomAD 2-127419972-C-T, CADD 7.74
- V11M (p.Val11Met), ESP rs368493458, ExAC rs368493458, TOPMed rs368493458, gnomAD rs368493458, REVEL 0.27, CADD 0.11, Uncertain significance, not specified
- V11E (p.Val11Glu), gnomAD 2-127419974-T-A, REVEL 0.53, CADD 18.10
- A12A (p.Ala12Ala), gnomAD 2-127419978-C-A, CADD 9.19
- T13P (p.Thr13Pro), ExAC rs781386476, gnomAD rs781386476, REVEL 0.52, CADD 15.80
- T13T (p.Thr13Thr), rs748548752, gnomAD 2-127419981-C-T, CADD 9.16
- W14* (p.Trp14Ter), rs758576042, ClinGen CA55341142, ClinVar RCV001248247, ClinVar RCV002245902, CADD 36.00, Pathogenic, in patients with PROC deficiency
- W14G (p.Trp14Gly), UniProt VAR 006634, Uncertain significance, in patients with PROC deficiency
- G15R (p.Gly15Arg), NCI-TCGA Cosmic COSV5216, cosmic curated COSV52166, Variant assessed as somatic; moderate impact.
- G15E (p.Gly15Glu), gnomAD 2-127419986-G-A, REVEL 0.36, CADD 17.70
- G15G (p.Gly15Gly), gnomAD 2-127419987-A-C, CADD 6.70
- S17S (p.Ser17Ser), rs770171684, gnomAD 2-127419993-C-T, CADD 9.24
- G18C (p.Gly18Cys), 1000Genomes rs146793243, ESP rs146793243, ExAC rs146793243, TOPMed rs146793243, REVEL 0.43, CADD 4.55, Uncertain significance
- G18S (p.Gly18Ser), cosmic curated COSV10509, 1000Genomes rs146793243, ESP rs146793243, ExAC rs146793243, REVEL 0.54, CADD 0.00, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- T19I (p.Thr19Ile), TOPMed rs1687991185
- T19T (p.Thr19Thr), gnomAD 2-127419999-A-G, CADD 6.07
- T19S (p.Thr19Ser), rs890083229, []
- P20S (p.Pro20Ser), gnomAD 2-127420000-C-T, REVEL 0.20, CADD 10.30
- P20P (p.Pro20Pro), rs1282935697, gnomAD 2-127420002-A-G, CADD 2.60
- P22A (p.Pro22Ala), ExAC rs771569764, TOPMed rs771569764, gnomAD rs771569764, REVEL 0.27, CADD 0.73
- P22L (p.Pro22Leu), ExAC rs775126434, gnomAD rs775126434, REVEL 0.29, CADD 5.66
- P22P (p.Pro22Pro), rs144300387, gnomAD 2-127420008-T-C, CADD 6.99
- L23P (p.Leu23Pro), Ensembl rs1573433883
- L23L (p.Leu23Leu), gnomAD 2-127420011-T-C, CADD 0.01
- D24G (p.Asp24Gly), gnomAD rs1455533451, REVEL 0.31, CADD 19.00
- D24V (p.Asp24Val), gnomAD 2-127421283-A-T, REVEL 0.57, CADD 22.90
- D24D (p.Asp24Asp), rs764423112, gnomAD 2-127421284-C-T, CADD 13.80
- S25S (p.Ser25Ser), rs1214393595, gnomAD 2-127421287-A-G, CADD 10.10
- V26M (p.Val26Met), rs754243426, ClinGen CA1859234, ClinVar RCV000851876, ExAC rs754243426, REVEL 0.87, CADD 33.00, Likely pathogenic, Reduced protein C activity
- F27L (p.Phe27Leu), gnomAD 2-127421286-CAG-C, CADD 33.00
- S28S (p.Ser28Ser), rs889074002, gnomAD 2-127421296-C-G, CADD 10.60
- S29G (p.Ser29Gly), gnomAD rs1433394075, REVEL 0.46, CADD 23.20
- S30R (p.Ser30Arg), 1000Genomes rs552714462, ExAC rs552714462, TOPMed rs552714462, gnomAD rs552714462, REVEL 0.32, CADD 6.08, Likely benign
- S30N (p.Ser30Asn), gnomAD 2-127421301-G-A, REVEL 0.36, CADD 22.20
- S30S (p.Ser30Ser), rs552714462, gnomAD 2-127421302-C-T, CADD 6.26
- E31K (p.Glu31Lys), rs779710709, ClinGen CA1859236, ClinVar RCV000226874, ExAC rs779710709, REVEL 0.29, CADD 8.62, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- E31V (p.Glu31Val), rs2468324840, ClinGen CA348397686, ClinVar RCV002776555, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- E31P (p.Glu31Pro), gnomAD 2-127421300-AGCGA, CADD 25.00
- E31* (p.Glu31Ter), gnomAD 2-127421303-G-T, CADD 35.00
- R32C (p.Arg32Cys), rs2468324848, ClinGen CA348397690, ClinVar RCV002776556, UniProt VAR 006635, REVEL 0.60, CADD 23.20, Pathogenic, Thrombophilia due to protein C deficiency, autosomal dominant
- R32H (p.Arg32His), ExAC rs746654539, TOPMed rs746654539, gnomAD rs746654539, REVEL 0.28, CADD 6.64, Uncertain significance, not provided
- R32P (p.Arg32Pro), ExAC rs746654539, TOPMed rs746654539, gnomAD rs746654539, REVEL 0.61, CADD 8.50, Uncertain significance, in THPH3
- R32S (p.Arg32Ser), gnomAD 2-127421306-C-A, REVEL 0.27, CADD 13.30
- R32L (p.Arg32Leu), gnomAD 2-127421307-G-T, REVEL 0.42, CADD 8.78
- R32R (p.Arg32Arg), gnomAD 2-127421308-T-C, CADD 5.02
- R32D (p.Arg32Asp), rs886054845, Uncertain significance
- H34P (p.His34Pro), Ensembl rs1573436883
- Q35H (p.Gln35His), ExAC rs754445822, gnomAD rs754445822, REVEL 0.26, CADD 18.40
- Q35R (p.Gln35Arg), gnomAD rs1688076659, REVEL 0.30, CADD 22.70
- V36L (p.Val36Leu), TOPMed rs1318261693, gnomAD rs1318261693, REVEL 0.44, CADD 21.50
- V36M (p.Val36Met), gnomAD 2-127421318-G-A, REVEL 0.55, CADD 23.10
- V36V (p.Val36Val), gnomAD 2-127421320-G-A, CADD 5.75
- L37M (p.Leu37Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L37P (p.Leu37Pro), ExAC rs748083494, gnomAD rs748083494, REVEL 0.91, CADD 25.80
- L37V (p.Leu37Val), ExAC rs780914969, gnomAD rs780914969, REVEL 0.68, CADD 23.30
- L37L (p.Leu37Leu), gnomAD 2-127421323-G-A, CADD 1.27
- R38P (p.Arg38Pro), ExAC rs773107370, TOPMed rs773107370, gnomAD rs773107370, Uncertain significance, in patients with PROC deficiency
- R38Q (p.Arg38Gln), rs773107370, ClinGen CA1859242, cosmic curated COSV52165, ClinVar RCV000984471, REVEL 0.53, CADD 25.70, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- R38W (p.Arg38Trp), rs769900251, ClinGen CA1859241, ClinVar RCV001727153, ClinVar RCV002543888, REVEL 0.78, CADD 24.70, Uncertain significance, not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- I39I (p.Ile39Ile), rs1163991795, gnomAD 2-127421329-C-A, CADD 5.30
- R40C (p.Arg40Cys), rs199514227, ClinGen CA1859243, cosmic curated COSV52165, ClinVar RCV001347080, REVEL 0.63, CADD 23.30, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due
- R40H (p.Arg40His), ExAC rs770650361, TOPMed rs770650361, gnomAD rs770650361, REVEL 0.32, CADD 4.24, Likely pathogenic, Deep venous thrombosis; Thromboembolism; Thrombophilia due to protein C deficien
- R40L (p.Arg40Leu), gnomAD 2-127421331-G-T, REVEL 0.49, CADD 11.30
- R42C (p.Arg42Cys), rs774572099, ClinGen CA1859245, ClinVar RCV001200134, ClinVar RCV001379312, REVEL 0.85, CADD 24.80, Pathogenic/Likely pathogenic, Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due
- R42H (p.Arg42His), rs369504169, ClinGen CA211707, ClinVar RCV000148739, ClinVar RCV000851677, REVEL 0.93, CADD 26.10, Likely pathogenic, Deep venous thrombosis; Thromboembolism; Thrombophilia due to protein C deficien
- R42L (p.Arg42Leu), ESP rs369504169, ExAC rs369504169, TOPMed rs369504169, gnomAD rs369504169, REVEL 0.94, CADD 25.90, Likely pathogenic, not provided
- R42S (p.Arg42Ser), rs774572099, UniProt VAR 055074, ExAC rs774572099, TOPMed rs774572099, REVEL 0.84, CADD 23.80, Pathogenic, in THPH3
- R42R (p.Arg42Arg), rs1459858777, gnomAD 2-127421338-T-A, CADD 0.28
- A43P (p.Ala43Pro), ExAC rs767626189, TOPMed rs767626189, gnomAD rs767626189, REVEL 0.81, CADD 23.70, Uncertain significance
- A43T (p.Ala43Thr), rs767626189, ClinGen CA1859246, ClinVar RCV001801321, ClinVar RCV003416461, REVEL 0.81, CADD 23.70, Conflicting interpretations, not specified; not provided; PROC-related disorder
- A43D (p.Ala43Asp), gnomAD 2-127421340-C-A, REVEL 0.72, CADD 23.80
- N44H (p.Asn44His), TOPMed rs1467015445
- N44K (p.Asn44Lys), ExAC rs775598456, TOPMed rs775598456, gnomAD rs775598456, REVEL 0.51, CADD 21.90, Likely benign
- N44S (p.Asn44Ser), TOPMed rs1416873800, gnomAD rs1416873800, REVEL 0.50, CADD 19.70
- N44N (p.Asn44Asn), rs775598456, gnomAD 2-127421344-C-T, CADD 5.71
- S45P (p.Ser45Pro), gnomAD 2-127421345-T-C, REVEL 0.52, CADD 13.70
- S45F (p.Ser45Phe), gnomAD 2-127421346-C-T, REVEL 0.45, CADD 18.20
- F46L (p.Phe46Leu), ESP rs141040323, ExAC rs141040323, TOPMed rs141040323, gnomAD rs141040323, REVEL 0.69, CADD 22.40, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant; not specified
- F46del (p.Phe46del), gnomAD 2-127421346-CCTT-, CADD 15.50
- F46F (p.Phe46Phe), rs141040323, gnomAD 2-127421350-C-T, CADD 6.66
- L47V (p.Leu47Val), gnomAD 2-127421351-C-G, REVEL 0.59, CADD 21.80
- E48Q (p.Glu48Gln), NCI-TCGA Cosmic COSV5216, cosmic curated COSV52168, Uncertain significance, Inborn genetic diseases
- E48K (p.Glu48Lys), gnomAD 2-127421354-G-A, REVEL 0.91, CADD 26.80
- E49D (p.Glu49Asp), UniProt VAR 006640, Uncertain significance, in patients with PROC deficiency
- L50del (p.Leu50del), gnomAD 2-127421359-GCTC-, CADD 15.80
- L50L (p.Leu50Leu), rs1455925750, gnomAD 2-127421362-C-T, CADD 1.00
- R51C (p.Arg51Cys), rs764546127, ClinGen CA1859249, NCI-TCGA Cosmic COSV5216, cosmic curated COSV52169, REVEL 0.68, CADD 22.70, Pathogenic, not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- R51H (p.Arg51His), Ensembl rs1688080491, REVEL 0.64, CADD 22.90
- R51S (p.Arg51Ser), ExAC rs764546127, TOPMed rs764546127, gnomAD rs764546127, REVEL 0.46, CADD 20.90, Pathogenic, in patients with PROC deficiency
- R51R (p.Arg51Arg), gnomAD 2-127421365-T-A, CADD 4.94
- H52Q (p.His52Gln), rs1558712064, ClinGen CA348397883, ClinVar RCV000686566, Ensembl rs1558712064, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- H52T (p.His52Thr), rs1196026290, gnomAD 2-127421364-GT-G, CADD 15.80
- H52A (p.His52Ala), gnomAD 2-127421365-T-TG, CADD 18.70
- H52H (p.His52His), gnomAD 2-127421368-C-T, CADD 0.48
- S53G (p.Ser53Gly), gnomAD 2-127421369-A-G, REVEL 0.38, CADD 1.86
- S53R (p.Ser53Arg), gnomAD 2-127421370-GC-G, CADD 23.00
- S54C (p.Ser54Cys), rs376049280, ClinGen CA211721, ClinVar RCV000148744, ClinVar RCV002505135, REVEL 0.76, CADD 23.40, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- S54R (p.Ser54Arg), gnomAD 2-127421372-A-AGA, CADD 23.30
- S54N (p.Ser54Asn), gnomAD 2-127421373-G-A, REVEL 0.29, CADD 0.40
- S54S (p.Ser54Ser), rs1273141289, gnomAD 2-127421374-C-T, CADD 7.77
- L55P (p.Leu55Pro), rs2468325276, ClinGen CA348397935, ClinVar RCV002663929, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- L55M (p.Leu55Met), gnomAD 2-127421375-C-A, REVEL 0.63, CADD 17.30
- L55L (p.Leu55Leu), gnomAD 2-127421377-G-A, CADD 6.61
- E56K (p.Glu56Lys), TOPMed rs1199608895
- E56A (p.Glu56Ala), gnomAD 2-127421376-TGG-T, CADD 27.50
- E56Q (p.Glu56Gln), gnomAD 2-127421378-G-C, REVEL 0.89, CADD 24.60
- E56E (p.Glu56Glu), rs1558712080, gnomAD 2-127421380-G-A, CADD 5.02
- R57G (p.Arg57Gly), UniProt VAR 006643, Uncertain significance, in Yonago
- R57L (p.Arg57Leu), 1000Genomes rs574949343, ExAC rs574949343, TOPMed rs574949343, gnomAD rs574949343, REVEL 0.96, CADD 26.10
- R57Q (p.Arg57Gln), rs574949343, UniProt VAR 006644, 1000Genomes rs574949343, ExAC rs574949343, REVEL 0.92, CADD 26.40, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- R57W (p.Arg57Trp), rs757583846, ClinGen CA334388, ClinVar RCV000168170, ClinVar RCV000490205, REVEL 0.90, CADD 23.40, Pathogenic/Likely pathogenic, Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- R57R (p.Arg57Arg), gnomAD 2-127421381-C-A, CADD 5.87
- R57P (p.Arg57Pro), gnomAD 2-127421382-G-C, REVEL 0.96, CADD 26.60
- C59Y (p.Cys59Tyr), gnomAD 2-127421388-G-A, REVEL 0.95, CADD 25.40
- I60T (p.Ile60Thr), ExAC rs751218842, TOPMed rs751218842, gnomAD rs751218842, REVEL 0.40, CADD 0.15
- I60V (p.Ile60Val), gnomAD rs1301563390
- E61K (p.Glu61Lys), gnomAD 2-127421393-G-A, REVEL 0.90, CADD 27.30
- E62A (p.Glu62Ala), rs121918148, ClinGen CA114402, ClinVar RCV000000699, ClinVar RCV003398403, Pathogenic/Likely pathogenic, not provided; PROC-related disorder
- E62del (p.Glu62del), rs1223883395, gnomAD 2-127421392-AGAG-, CADD 20.80
- E62E (p.Glu62Glu), rs1276731365, gnomAD 2-127421398-G-A, CADD 10.70
- I63F (p.Ile63Phe), TOPMed rs1438849881, REVEL 0.53, CADD 19.10
- I63N (p.Ile63Asn), TOPMed rs1370099703, REVEL 0.42, CADD 14.70
- I63T (p.Ile63Thr), TOPMed rs1370099703, REVEL 0.33, CADD 12.60
- D65N (p.Asp65Asn), gnomAD rs1287265930, REVEL 0.35, CADD 20.70
- D65D (p.Asp65Asp), rs1034359374, gnomAD 2-127421407-C-T, CADD 8.75
- F66L (p.Phe66Leu), 1000Genomes rs201463891, ExAC rs201463891, TOPMed rs201463891, gnomAD rs201463891, REVEL 0.36, CADD 2.30, Likely benign
- F66F (p.Phe66Phe), rs201463891, gnomAD 2-127421410-C-T, CADD 4.64
- E67* (p.Glu67Ter), TOPMed rs1448630830, Likely pathogenic
- E67K (p.Glu67Lys), rs1448630830, ClinGen CA348398122, cosmic curated COSV99300, ClinVar RCV000761310, REVEL 0.89, CADD 31.00, Likely pathogenic, Thrombophilia due to protein C deficiency, autosomal dominant
- E68A (p.Glu68Ala), NCI-TCGA TCGA novel, REVEL 0.88, CADD 28.50, Variant assessed as somatic; moderate impact.
- E68K (p.Glu68Lys), NCI-TCGA Cosmic COSV5216, cosmic curated COSV52166, TOPMed rs1352609136, REVEL 0.92, CADD 31.00, Variant assessed as somatic; moderate impact.
- E68Q (p.Glu68Gln), TOPMed rs1352609136
- E68E (p.Glu68Glu), rs752294542, gnomAD 2-127421416-G-A, CADD 7.76
- A69T (p.Ala69Thr), rs2104944789, ClinGen CA348398136, ClinVar RCV001366397, Ensembl rs2104944789, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- A69V (p.Ala69Val), rs984698204, ClinGen CA55343052, ClinVar RCV001238309, TOPMed rs984698204, REVEL 0.66, CADD 23.50, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- A69A (p.Ala69Ala), rs1688084116, gnomAD 2-127421419-C-A, CADD 11.40
- K70E (p.Lys70Glu), rs199469481, ClinGen CA55343075, ClinVar RCV003494637, UniProt VAR 074296, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- K70M (p.Lys70Met), cosmic curated COSV52168, ExAC rs568473236, TOPMed rs568473236, gnomAD rs568473236
- K70R (p.Lys70Arg), ExAC rs568473236, TOPMed rs568473236, gnomAD rs568473236, REVEL 0.35, CADD 13.80
- K70K (p.Lys70Lys), rs1573437416, gnomAD 2-127421422-G-A, CADD 8.79
- E71D (p.Glu71Asp), gnomAD rs1207902871, REVEL 0.89, CADD 23.40
- E71K (p.Glu71Lys), NCI-TCGA Cosmic COSV5216, cosmic curated COSV52167, Variant assessed as somatic; moderate impact.
- I72M (p.Ile72Met), Ensembl rs1688084869
- I72T (p.Ile72Thr), gnomAD 2-127421427-T-C, REVEL 0.95, CADD 27.60
- F73F (p.Phe73Phe), gnomAD 2-127421431-C-T, CADD 13.20
- Q74* (p.Gln74Ter), NCI-TCGA Cosmic COSV5216, cosmic curated COSV52164, NCI-TCGA Cosmic COSV9930, Variant assessed as somatic; high impact.
- V76L (p.Val76Leu), ExAC rs121918149, TOPMed rs121918149, gnomAD rs121918149, Pathogenic, in THPH3
- V76M (p.Val76Met), rs121918149, ClinGen CA114404, ClinVar RCV000000700, ClinVar RCV000852081, REVEL 0.65, CADD 22.60, Pathogenic/Likely pathogenic, Abnormal thrombosis; Cerebral palsy
- V76G (p.Val76Gly), gnomAD 2-127421439-T-G, REVEL 0.50, CADD 20.40
- D77G (p.Asp77Gly), rs1688085227, UniProt VAR 073145, Ensembl rs1688085227, REVEL 0.82, CADD 33.00, Conflicting interpretations, not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- D77N (p.Asp77Asn), Ensembl rs2104944875
- D78G (p.Asp78Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D78N (p.Asp78Asn), ExAC rs749192814, TOPMed rs749192814, gnomAD rs749192814, REVEL 0.22, CADD 18.10
- T79R (p.Thr79Arg), rs2468325686, ClinGen CA348398210, ClinVar RCV003495031, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- T79T (p.Thr79Thr), gnomAD 2-127421449-A-C, CADD 13.50
- L80L (p.Leu80Leu), rs1433950308, gnomAD 2-127422917-C-T, CADD 19.40
- A81G (p.Ala81Gly), gnomAD 2-127422921-C-G, REVEL 0.46, CADD 22.60
- F82S (p.Phe82Ser), rs1573442078, ClinGen CA348398620, ClinVar RCV001027424, Ensembl rs1573442078, not provided, Hereditary angioedema with normal C1Inh
- F82L (p.Phe82Leu), gnomAD 2-127422925-C-A, REVEL 0.89, CADD 31.00
- W83* (p.Trp83Ter), ExAC rs747236088, TOPMed rs747236088, gnomAD rs747236088, CADD 49.00
- W83L (p.Trp83Leu), gnomAD 2-127422927-G-T, REVEL 0.80, CADD 33.00
- S84C (p.Ser84Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S84P (p.Ser84Pro), rs1688199561, ClinGen CA348398653, ClinVar RCV003598528, Uncertain significance, Thrombophilia due to protein C deficiency, autosomal dominant
- S84T (p.Ser84Thr), TOPMed rs1688199561
Public PROC analysis runs
- PROC analysis run — PROC (880 variants) — completed 2026-08-19