PLAU (P00749) variants and mutations
PLAU (also known as P00749) is a human protein-coding gene encoding an urokinase-type plasminogen activator protein. It activates plasminogen at cell surfaces and thereby promotes fibrinolysis, extracellular-matrix remodeling, and cell migration. Excess activity can support invasion in cancer and tissue remodeling, while its receptor-localized system also participates in wound healing and inflammation. This analysis covers 642 PLAU variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes Quebec platelet disorder, abdominal aortic aneurysm, and myocardial infarction. Example PLAU variants include R2K, R2T, and R2R.
Variant analysis overview
- Gene: PLAU
- Protein: P00749
- UniProt accession: P00749
- Organism: Homo sapiens
- Variants analyzed: 642
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 501 unspecified-consequence records; 58 synonymous variants; 57 missense variants; 11 frameshift variants; 1 in-frame deletions; 5 stop-gained variants; 4 splice-region variants; 1 in-frame insertions; 4 substitution
- Prediction scores: 592 variants have prediction scores (92% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Quebec platelet disorder, abdominal aortic aneurysm, myocardial infarction, inflammatory bowel disease, Recurrent thrombophlebitis, ischemic stroke, atherosclerosis, actinic keratosis, psoriasis vulgaris, diabetic foot, empyema, stroke disorder.
Protein structure and variant hotspots
- Protein features: 3 domains; 4 post-translational modification sites.
- Structural context: 526 variants have structural context.
- PTM context: 8 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 PLAU variants
Examples include R2K, R2T, R2R, A3P, A3T, A3D, A3V, A3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- R2K (p.Arg2Lys), gnomAD rs1231073436, REVEL 0.16, MetaLR 0.44
- R2T (p.Arg2Thr), gnomAD rs1231073436, REVEL 0.29, MetaLR 0.55
- R2R (p.Arg2Arg), rs752095700, gnomAD 10-73911559-A-C, CADD 11.80
- A3P (p.Ala3Pro), gnomAD rs2096124087, REVEL 0.32, MetaLR 0.43
- A3T (p.Ala3Thr), NCI-TCGA TCGA novel, MetaLR 0.39, MetaSVM -0.70, Variant assessed as somatic; moderate impact.
- A3D (p.Ala3Asp), gnomAD 10-73911563-C-A, REVEL 0.24, CADD 14.20
- A3V (p.Ala3Val), gnomAD 10-73911563-C-T, REVEL 0.20, CADD 2.12
- A3A (p.Ala3Ala), rs1255365194, gnomAD 10-73911564-C-G, CADD 8.56
- L4R (p.Leu4Arg), Ensembl rs2136185031, MetaLR 0.46, MetaSVM -0.48
- L5Q (p.Leu5Gln), Ensembl rs2136185044, MetaLR 0.62, MetaSVM -0.34
- L5V (p.Leu5Val), Ensembl rs2136185037, REVEL 0.06, CADD 3.03
- L5W (p.Leu5Trp), gnomAD 10-73911567-GC-G, CADD 16.40
- L5R (p.Leu5Arg), gnomAD 10-73911569-T-G, REVEL 0.30, CADD 12.90
- L5M (p.Leu5Met), gnomAD 10-73911904-T-A, REVEL 0.06, CADD 2.80
- L5F (p.Leu5Phe), rs2096125170, gnomAD 10-73911906-G-C, REVEL 0.06, CADD 13.00
- A6E (p.Ala6Glu), rs371106595, ClinGen CA5562226, ClinVar RCV000340376, ClinVar RCV004021481, REVEL 0.24, MetaLR 0.60, Conflicting interpretations, not specified; Quebec platelet disorder; Alzheimer disease type 1
- A6S (p.Ala6Ser), ExAC rs759037884, gnomAD rs759037884, REVEL 0.26, MetaLR 0.39
- A6T (p.Ala6Thr), ExAC rs759037884, gnomAD rs759037884, MetaLR 0.48, MetaSVM -0.60
- A6A (p.Ala6Ala), gnomAD 10-73911573-G-A, CADD 1.08
- R7C (p.Arg7Cys), TOPMed rs2096124149, gnomAD rs2096124149, REVEL 0.14, MetaLR 0.27
- R7H (p.Arg7His), ExAC rs752151133, TOPMed rs752151133, gnomAD rs752151133, REVEL 0.24, MetaLR 0.33
- R7R (p.Arg7Arg), rs2096124163, gnomAD 10-73911576-C-T, CADD 9.02
- R7I (p.Arg7Ile), rs758106450, gnomAD 10-73911908-G-T, REVEL 0.06, CADD 17.60
- R7T (p.Arg7Thr), rs758106450, gnomAD 10-73911908-G-C, REVEL 0.07, CADD 22.00
- L8L (p.Leu8Leu), gnomAD 10-73911579-G-C, CADD 7.88
- L9R (p.Leu9Arg), TOPMed rs1458009938, gnomAD rs1458009938, REVEL 0.50, MetaLR 0.68
- L9H (p.Leu9His), gnomAD 10-73911581-T-A, REVEL 0.44, CADD 23.30
- L9L (p.Leu9Leu), rs755791500, gnomAD 10-73911582-T-C, CADD 4.71
- C11C (p.Cys11Cys), gnomAD 10-73911588-C-T, CADD 6.42
- V12A (p.Val12Ala), gnomAD rs1456313273, REVEL 0.14, MetaLR 0.41
- V12L (p.Val12Leu), ExAC rs777370331, gnomAD rs777370331, REVEL 0.11, MetaLR 0.48
- V12I (p.Val12Ile), gnomAD 10-73911589-G-A, REVEL 0.11, CADD 6.16
- L13P (p.Leu13Pro), TOPMed rs2096124200, MetaLR 0.78, MetaSVM 0.60
- L13L (p.Leu13Leu), gnomAD 10-73911592-C-T, CADD 7.71
- V14V (p.Val14Val), gnomAD 10-73911597-C-G, CADD 6.32
- V15L (p.Val15Leu), rs2227580, 1000Genomes rs2227580, ESP rs2227580, ExAC rs2227580, REVEL 0.10, MetaLR 0.23, Benign, not provided; Quebec platelet disorder; not specified
- V15M (p.Val15Met), 1000Genomes rs2227580, ESP rs2227580, ExAC rs2227580, TOPMed rs2227580, REVEL 0.25, MetaLR 0.61, Benign
- D17G (p.Asp17Gly), TOPMed rs2096124253
- D17H (p.Asp17His), ExAC rs745821284, TOPMed rs745821284, gnomAD rs745821284, MetaLR 0.43, MetaSVM -0.68
- D17N (p.Asp17Asn), ExAC rs745821284, TOPMed rs745821284, gnomAD rs745821284, REVEL 0.14, MetaLR 0.39
- D17Y (p.Asp17Tyr), gnomAD 10-73911604-G-T, REVEL 0.23, CADD 22.20
- D17V (p.Asp17Val), gnomAD 10-73911605-A-T, REVEL 0.21, CADD 24.20
- D17D (p.Asp17Asp), rs771848360, gnomAD 10-73911606-C-T, CADD 10.90
- S18C (p.Ser18Cys), Ensembl rs2096124265
- S18Y (p.Ser18Tyr), gnomAD 10-73911608-C-A, REVEL 0.30, CADD 21.50
- K19I (p.Lys19Ile), gnomAD 10-73911611-A-T, REVEL 0.22, CADD 25.20
- G20V (p.Gly20Val), gnomAD 10-73912042-G-T, REVEL 0.24, CADD 33.00
- G20G (p.Gly20Gly), gnomAD 10-73912043-C-T, REVEL 0.14, CADD 11.70
- S21I (p.Ser21Ile), gnomAD rs1321041282, REVEL 0.15, MetaLR 0.44
- S21S (p.Ser21Ser), rs1205672968, gnomAD 10-73912046-C-T, REVEL 0.04, CADD 8.71
- N22S (p.Asn22Ser), TOPMed rs934075837, gnomAD rs934075837, REVEL 0.17, MetaLR 0.33
- N22D (p.Asn22Asp), gnomAD 10-73912047-A-G, REVEL 0.16, CADD 5.71
- N22N (p.Asn22Asn), gnomAD 10-73912049-T-C, REVEL 0.11, CADD 13.00
- E23Q (p.Glu23Gln), rs1439187534, gnomAD 10-73911919-G-C, REVEL 0.22, CADD 19.20
- E23* (p.Glu23Ter), rs1439187534, gnomAD 10-73911919-G-T, REVEL 0.18, CADD 19.30
- E23K (p.Glu23Lys), rs1439187534, gnomAD 10-73911919-G-A, CADD 8.81
- E23A (p.Glu23Ala), gnomAD 10-73911920-A-C, REVEL 0.09, CADD 21.90
- H25Y (p.His25Tyr), ExAC rs753994566, gnomAD rs753994566, REVEL 0.27, MetaLR 0.30
- H25I (p.His25Ile), rs1417576768, gnomAD 10-73911899-TC-T, CADD 17.10
- H4del (p.His4del), gnomAD 10-73911901-CATT-, CADD 13.60
- H25L (p.His25Leu), gnomAD 10-73911902-A-T, REVEL 0.07, CADD 8.57
- H25H (p.His25His), gnomAD 10-73911903-T-C, REVEL 0.10, CADD 13.70
- Q26H (p.Gln26His), rs1317597304, gnomAD 10-73911924-G-C, REVEL 0.05, CADD 13.10
- Q26Q (p.Gln26Gln), rs933026298, gnomAD 10-73912061-A-G, REVEL 0.05, CADD 16.40
- V27F (p.Val27Phe), TOPMed rs2096125577, gnomAD rs2096125577, REVEL 0.21, MetaLR 0.31
- P28T (p.Pro28Thr), TOPMed rs2096125587, REVEL 0.22, MetaLR 0.37
- P28P (p.Pro28Pro), rs757266930, gnomAD 10-73912067-A-G, REVEL 0.07, CADD 15.50
- S29* (p.Ser29Ter), ESP rs370557565, ExAC rs370557565, TOPMed rs370557565, gnomAD rs370557565, CADD 35.00, SIFT 0.38
- S29=, rs774129403, NCI-TCGA Cosmic COSV6564, AlphaMissense 0.08, MetaLR 0.08, Variant assessed as somatic; low impact.
- S29L (p.Ser29Leu), rs370557565, cosmic curated COSV10103, ESP rs370557565, ExAC rs370557565, REVEL 0.15, MetaLR 0.39, Variant assessed as somatic; moderate impact.
- S29P (p.Ser29Pro), ExAC rs779261663, gnomAD rs779261663, REVEL 0.37, MetaLR 0.09
- S29S (p.Ser29Ser), rs774129403, gnomAD 10-73912216-G-A, REVEL 0.10, AlphaMissense 0.08
- N30K (p.Asn30Lys), gnomAD 10-73912219-C-A, REVEL 0.24, CADD 21.30
- C31Y (p.Cys31Tyr), TOPMed rs1448686624, gnomAD rs1448686624, REVEL 0.67, MetaLR 0.65
- D32D (p.Asp32Asp), rs1464828809, gnomAD 10-73912225-C-T, REVEL 0.14, CADD 22.70
- C33S (p.Cys33Ser), TOPMed rs1200077098, gnomAD rs1200077098, REVEL 0.77, MetaLR 0.14, Uncertain significance, PLAU-related disorder
- C33* (p.Cys33Ter), rs1246794053, gnomAD 10-73912224-ACTGT, CADD 32.00
- L34I (p.Leu34Ile), gnomAD 10-73912229-C-A, REVEL 0.46, CADD 25.60
- G36A (p.Gly36Ala), gnomAD rs2096125996, REVEL 0.65, MetaLR 0.74
- G37R (p.Gly37Arg), NCI-TCGA TCGA novel, REVEL 0.78, MetaLR 0.14, Variant assessed as somatic; moderate impact.
- G37A (p.Gly37Ala), gnomAD 10-73912239-G-C, REVEL 0.67, CADD 27.30
- G37G (p.Gly37Gly), rs200927138, gnomAD 10-73912240-A-G, REVEL 0.22, CADD 19.30
- T38R (p.Thr38Arg), TOPMed rs1478820563, gnomAD rs1478820563, REVEL 0.31, MetaLR 0.39
- T38S (p.Thr38Ser), rs1414291341, gnomAD 10-73911911-C-G, REVEL 0.04, CADD 9.51
- T38K (p.Thr38Lys), gnomAD 10-73912242-C-A, REVEL 0.22, MetaLR 0.37
- T38T (p.Thr38Thr), gnomAD 10-73912243-A-C, REVEL 0.05, CADD 14.60
- C39R (p.Cys39Arg), gnomAD 10-73912244-T-C, REVEL 0.86, MetaLR 0.16
- V40A (p.Val40Ala), TOPMed rs1025371355, gnomAD rs1025371355, REVEL 0.37, MetaLR 0.57
- V40V (p.Val40Val), gnomAD 10-73912249-G-A, CADD 9.16
- S41F (p.Ser41Phe), ExAC rs775296618, TOPMed rs775296618, gnomAD rs775296618, REVEL 0.65, MetaLR 0.69
- S41Q (p.Ser41Gln), gnomAD 10-73912242-CAT-C, CADD 27.70
- S41S (p.Ser41Ser), gnomAD 10-73912252-C-T, CADD 12.10
- N42S (p.Asn42Ser), gnomAD rs1457375765, REVEL 0.29, MetaLR 0.33
- N42D (p.Asn42Asp), gnomAD 10-73912253-A-G, REVEL 0.29, MetaLR 0.36
- K43Q (p.Lys43Gln), TOPMed rs1418012214, MetaLR 0.49, MetaSVM -0.21
- Y44* (p.Tyr44Ter), Ensembl rs2136186449
- Y44C (p.Tyr44Cys), cosmic curated COSV65640, ESP rs374232402, ExAC rs374232402, TOPMed rs374232402, REVEL 0.61, MetaLR 0.73, Uncertain significance, not specified
- Y44F (p.Tyr44Phe), rs751542437, gnomAD 10-73911917-A-T, REVEL 0.07, CADD 21.00
- Y44Y (p.Tyr44Tyr), rs371542108, gnomAD 10-73911918-C-T, REVEL 0.12, CADD 5.81
- F45L (p.Phe45Leu), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10103, MetaLR 0.67, MetaSVM 0.18, Variant assessed as somatic; moderate impact.
- F45F (p.Phe45Phe), gnomAD 10-73911900-C-T, REVEL 0.08, CADD 14.00
- S46C (p.Ser46Cys), NCI-TCGA Cosmic COSV1010, REVEL 0.62, MetaLR 0.86, Variant assessed as somatic; moderate impact.
- N47D (p.Asn47Asp), gnomAD 10-73912268-A-G, REVEL 0.17, MetaLR 0.39
- N47N (p.Asn47Asn), rs1381547705, gnomAD 10-73912270-C-T, CADD 7.71
- I48N (p.Ile48Asn), rs764051398, ClinGen CA377249007, ClinVar RCV001108612, ExAC rs764051398, REVEL 0.28, MetaLR 0.18, Uncertain significance, Quebec platelet disorder
- I48T (p.Ile48Thr), ExAC rs764051398, gnomAD rs764051398, REVEL 0.10, MetaLR 0.13, Uncertain significance, not specified
- I48I (p.Ile48Ile), rs1487852735, gnomAD 10-73912273-T-C, CADD 7.54
- H49P (p.His49Pro), gnomAD 10-73912275-A-C, REVEL 0.25, MetaLR 0.24
- C51Y (p.Cys51Tyr), TOPMed rs2096126069, MetaLR 0.59, MetaSVM 0.42
- C51R (p.Cys51Arg), gnomAD 10-73912280-T-C, REVEL 0.49, MetaLR 0.57
- N52H (p.Asn52His), Ensembl rs2136186512, MetaLR 0.13, MetaSVM -0.95
- N52T (p.Asn52Thr), TOPMed rs1332555318, gnomAD rs1332555318, REVEL 0.02, MetaLR 0.06, Uncertain significance, not specified
- C53S (p.Cys53Ser), gnomAD rs1434596738, REVEL 0.55, MetaLR 0.59
- C53C (p.Cys53Cys), rs1274415048, gnomAD 10-73912288-C-T, CADD 10.60
- P54L (p.Pro54Leu), Ensembl rs2096126099, MetaLR 0.40, MetaSVM -0.37
- P54R (p.Pro54Arg), gnomAD 10-73912290-C-G, REVEL 0.42, MetaLR 0.43
- P54P (p.Pro54Pro), rs142059320, gnomAD 10-73912291-A-G, CADD 14.70
- K55E (p.Lys55Glu), rs147372618, ClinGen CA5562335, ClinVar RCV000306361, ClinVar RCV004755859, REVEL 0.11, MetaLR 0.08, Benign/Likely benign, Quebec platelet disorder; not provided
- K55R (p.Lys55Arg), NCI-TCGA TCGA novel, MetaLR 0.14, MetaSVM -0.92, Variant assessed as somatic; moderate impact.
- K56I (p.Lys56Ile), Ensembl rs2096126116, REVEL 0.30, MetaLR 0.26
- F57F (p.Phe57Phe), rs375409521, gnomAD 10-73912300-C-T, CADD 12.60
- G58R (p.Gly58Arg), rs55744193, ClinGen CA277643, cosmic curated COSV65640, ClinVar RCV000201293, REVEL 0.05, MetaLR 0.10, Benign/Likely benign, not specified; not provided; Quebec platelet disorder
- G58V (p.Gly58Val), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10103, MetaLR 0.12, MetaSVM -1.00, Variant assessed as somatic; moderate impact.
- G58G (p.Gly58Gly), gnomAD 10-73912303-A-C, CADD 8.94
- G59E (p.Gly59Glu), gnomAD 10-73912305-G-A, REVEL 0.62, MetaLR 0.55
- G59A (p.Gly59Ala), gnomAD 10-73912305-G-C, REVEL 0.54, MetaLR 0.58
- G59G (p.Gly59Gly), gnomAD 10-73912306-G-T, CADD 14.20
- Q60* (p.Gln60Ter), gnomAD rs1174816874, CADD 37.00
- Q60K (p.Gln60Lys), gnomAD rs1174816874, REVEL 0.06, MetaLR 0.07
- Q60Q (p.Gln60Gln), rs2096126149, gnomAD 10-73912309-G-A, CADD 4.48
- H61Y (p.His61Tyr), NCI-TCGA Cosmic COSV6564, cosmic curated COSV65642, MetaLR 0.15, MetaSVM -0.97, Variant assessed as somatic; moderate impact.
- H61R (p.His61Arg), gnomAD 10-73912311-A-G, REVEL 0.22, MetaLR 0.16
- H61L (p.His61Leu), gnomAD 10-73912311-A-T, REVEL 0.30, MetaLR 0.15
- H61H (p.His61His), rs1210913472, gnomAD 10-73912312-C-T, CADD 11.30
- C62L (p.Cys62Leu), gnomAD 10-73912313-TG-T, CADD 32.00
- C62* (p.Cys62Ter), gnomAD 10-73912315-T-A, CADD 36.00
- E63K (p.Glu63Lys), gnomAD 10-73912316-G-A, REVEL 0.44, MetaLR 0.54
- I64L (p.Ile64Leu), rs1450169805, ClinGen CA377249355, ClinVar RCV004257142, TOPMed rs1450169805, REVEL 0.16, MetaLR 0.16, Uncertain significance, not specified
- D65E (p.Asp65Glu), TOPMed rs1172750674, gnomAD rs1172750674, REVEL 0.13, MetaLR 0.13
- D65G (p.Asp65Gly), rs183208966, ClinGen CA5562360, ClinVar RCV001103432, 1000Genomes rs183208966, REVEL 0.22, MetaLR 0.22, Uncertain significance, Quebec platelet disorder
- D65Y (p.Asp65Tyr), gnomAD 10-73912322-G-T, REVEL 0.46, MetaLR 0.45
- D65D (p.Asp65Asp), gnomAD 10-73912925-T-C, CADD 6.36
- K66N (p.Lys66Asn), TOPMed rs1162735777, gnomAD rs1162735777, REVEL 0.03, MetaLR 0.08
- K66R (p.Lys66Arg), TOPMed rs1355304641, gnomAD rs1355304641
- K66T (p.Lys66Thr), TOPMed rs1355304641, gnomAD rs1355304641, MetaLR 0.07, MetaSVM -1.01
- K66K (p.Lys66Lys), rs1162735777, gnomAD 10-73912928-G-A, CADD 1.51
- S67* (p.Ser67Ter), Ensembl rs2096127663, CADD 34.00
- S67T (p.Ser67Thr), NCI-TCGA Cosmic COSV6564, cosmic curated COSV65641, Variant assessed as somatic; moderate impact.
- S67S (p.Ser67Ser), rs2096127672, gnomAD 10-73912931-A-C, CADD 5.54
- K68E (p.Lys68Glu), ExAC rs753049435, gnomAD rs753049435, REVEL 0.03, MetaLR 0.07
- T69P (p.Thr69Pro), gnomAD 10-73912935-A-C, REVEL 0.34, MetaLR 0.32
- T69T (p.Thr69Thr), rs968181898, gnomAD 10-73912937-C-T, CADD 11.80
- C70* (p.Cys70Ter), gnomAD 10-73912940-C-A, CADD 37.00
- C70C (p.Cys70Cys), gnomAD 10-73912940-C-T, CADD 14.60
- Y71* (p.Tyr71Ter), Ensembl rs2096127713, CADD 34.00
- Y71C (p.Tyr71Cys), ExAC rs756485791, TOPMed rs756485791, gnomAD rs756485791, REVEL 0.42, MetaLR 0.53
- Y71F (p.Tyr71Phe), NCI-TCGA Cosmic COSV6564, cosmic curated COSV65641, Variant assessed as somatic; moderate impact.
- Y71H (p.Tyr71His), Ensembl rs2096127703, REVEL 0.56, MetaLR 0.53
- Y71S (p.Tyr71Ser), gnomAD 10-73912942-A-C, REVEL 0.40, MetaLR 0.42
- E72K (p.Glu72Lys), cosmic curated COSV10653, Ensembl rs2096127724, MetaLR 0.15, MetaSVM -0.97
- E72D (p.Glu72Asp), gnomAD 10-73912946-G-C, REVEL 0.09, MetaLR 0.15
- G73A (p.Gly73Ala), Ensembl rs979910679
- G73R (p.Gly73Arg), gnomAD rs1396039304, REVEL 0.52, MetaLR 0.57
- G73W (p.Gly73Trp), NCI-TCGA TCGA novel, MetaLR 0.64, MetaSVM 0.57, Variant assessed as somatic; moderate impact.
- G73G (p.Gly73Gly), rs369779851, gnomAD 10-73912949-G-T, CADD 10.80
- G75D (p.Gly75Asp), NCI-TCGA Cosmic COSV6564, cosmic curated COSV65641, REVEL 0.87, MetaLR 0.83, Variant assessed as somatic; moderate impact.
- G75V (p.Gly75Val), gnomAD 10-73912954-G-T, REVEL 0.91, MetaLR 0.86
- G75G (p.Gly75Gly), gnomAD 10-73912955-T-A, CADD 12.90
- H76H (p.His76His), rs754397889, gnomAD 10-73912958-C-T, CADD 10.40
- Y78* (p.Tyr78Ter), Ensembl rs2096127798, CADD 36.00
- Y78T (p.Tyr78Thr), rs1291846035, gnomAD 10-73912957-AC-A, CADD 23.70
- Y78H (p.Tyr78His), gnomAD 10-73912962-T-C, REVEL 0.85, MetaLR 0.86
- Y78Y (p.Tyr78Tyr), gnomAD 10-73912964-C-T, CADD 10.40
- R79* (p.Arg79Ter), cosmic curated COSV65641, ExAC rs757780690, gnomAD rs757780690, CADD 36.00
- R79L (p.Arg79Leu), 1000Genomes rs201299522, ESP rs201299522, ExAC rs201299522, TOPMed rs201299522, REVEL 0.65, MetaLR 0.56, Benign
- R79P (p.Arg79Pro), rs201299522, ClinGen CA5562367, ClinVar RCV001103433, 1000Genomes rs201299522, REVEL 0.73, MetaLR 0.66, Likely benign, Quebec platelet disorder
- R79Q (p.Arg79Gln), rs201299522, ClinGen CA5562366, cosmic curated COSV65642, ClinVar RCV000271088, REVEL 0.59, MetaLR 0.51, Conflicting interpretations, not specified; not provided; Quebec platelet disorder
- R79R (p.Arg79Arg), rs1298827490, gnomAD 10-73912967-A-G, CADD 12.90
- G80G (p.Gly80Gly), rs2096127834, gnomAD 10-73912970-A-G, CADD 14.60
- K81N (p.Lys81Asn), rs1208425827, NCI-TCGA Cosmic COSV1010, cosmic curated COSV10103, TOPMed rs1208425827, REVEL 0.05, MetaLR 0.19, Variant assessed as somatic; moderate impact.
Public PLAU analysis runs
- PLAU analysis run — PLAU (642 variants) — completed 2026-08-19