STK11 (Q15831) variants and mutations
STK11 (also known as Q15831) is a human protein-coding gene encoding a serine/threonine-protein kinase protein. It activates AMPK-family kinases to coordinate cellular energy sensing, polarity, and growth restraint. Germline loss-of-function variants cause Peutz-Jeghers syndrome and its associated cancer predisposition, while somatic loss is common in lung and other cancers. This analysis covers 2,273 STK11 variants and mutations. Of these, 47% have computational variant effect predictions. Disease context includes Peutz-Jeghers syndrome, familial pancreatic carcinoma, and lung adenocarcinoma. Example STK11 variants include M1?, M1L, and E2*.
Variant analysis overview
- Gene: STK11
- Protein: Q15831
- UniProt accession: Q15831
- Organism: Homo sapiens
- Variants analyzed: 2273
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 2,161 unspecified-consequence records; 88 synonymous variants; 15 missense variants; 2 in-frame deletions; 1 in-frame insertions; 1 splice-region variants; 4 substitution
- Prediction scores: 1,062 variants have prediction scores (47% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Peutz-Jeghers syndrome, familial pancreatic carcinoma, lung adenocarcinoma, melanoma, cutaneous malignant, susceptibility to, 1, testicular germ cell tumor, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, non-small cell lung carcinoma, familial ovarian cancer, cervical squamous cell carcinoma, melanoma, pancreatic neoplasm.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 binding sites; 18 post-translational modification sites.
- Structural context: 1,351 variants have structural context.
- PTM context: 89 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 STK11 variants
Examples include M1?, M1L, E2*, E2A, E2G, E2K, E2Q, E2E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10047, Variant assessed as somatic; high impact.
- M1L (p.Met1Leu), rs2080669644, ClinGen CA402942875, ClinVar RCV001187941, MetaLR 0.17, MetaSVM -0.89, Uncertain significance, Hereditary cancer-predisposing syndrome
- E2* (p.Glu2Ter), cosmic curated COSV10962, Ensembl rs1599914695, AlphaMissense 0.17, MetaLR 0.13, Uncertain significance
- E2A (p.Glu2Ala), rs1159551738, ClinGen CA402942916, ClinVar RCV000581495, ClinVar RCV000811637, REVEL 0.14, AlphaMissense 0.10, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malig
- E2G (p.Glu2Gly), rs1159551738, ClinGen CA402942917, ClinVar RCV003507200, AlphaMissense 0.10, MetaLR 0.12, Uncertain significance, Peutz-Jeghers syndrome
- E2K (p.Glu2Lys), Ensembl rs1599914695, Uncertain significance
- E2Q (p.Glu2Gln), rs1599914695, ClinGen CA402942914, cosmic curated COSV58829, ClinVar RCV000804942, AlphaMissense 0.17, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- E2E (p.Glu2Glu), rs1271482574, gnomAD 19-1206919-G-A, AlphaMissense 0.09, MetaLR 0.13
- E2D (p.Glu2Asp), gnomAD 19-1206919-G-T, REVEL 0.08, AlphaMissense 0.09
- V3G (p.Val3Gly), rs886054216, ClinGen CA10652247, ClinVar RCV000347967, ClinVar RCV000569286, REVEL 0.05, MetaLR 0.15, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- V3L (p.Val3Leu), rs906049559, ClinGen CA304016681, ClinVar RCV001179969, ClinVar RCV001875963, AlphaMissense 0.09, MetaLR 0.14, Uncertain significance, Hereditary cancer-predisposing syndrome
- V3M (p.Val3Met), rs906049559, ClinGen CA16620743, ClinVar RCV000483652, ClinVar RCV000632816, REVEL 0.05, AlphaMissense 0.09, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malig
- V3A (p.Val3Ala), gnomAD 19-1206921-T-C, REVEL 0.06, MetaLR 0.15
- V4A (p.Val4Ala), rs1599914720, ClinGen CA402942988, ClinVar RCV001346665, ClinVar RCV002350638, REVEL 0.08, AlphaMissense 0.05, Conflicting interpretations, Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- V4G (p.Val4Gly), rs1599914720, ClinGen CA402942973, ClinVar RCV002347181, Ensembl rs1599914720, AlphaMissense 0.05, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome
- V4L (p.Val4Leu), rs767300470, ClinGen CA402942957, ClinVar RCV000701189, ClinVar RCV004569364, REVEL 0.15, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- V4M (p.Val4Met), rs767300470, ClinGen CA402942954, cosmic curated COSV58822, ClinVar RCV000563171, REVEL 0.16, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- V4V (p.Val4Val), gnomAD 19-1206925-G-C, AlphaMissense 0.15, MetaLR 0.22
- D5A (p.Asp5Ala), gnomAD rs1178249537, REVEL 0.15, MetaLR 0.15, Uncertain significance
- D5G (p.Asp5Gly), rs1178249537, ClinGen CA402943017, ClinVar RCV001041297, ClinVar RCV002391119, REVEL 0.12, MetaLR 0.14, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome; Melanoma, cutan
- D5H (p.Asp5His), cosmic curated COSV58828, gnomAD rs1399081375, Uncertain significance
- D5N (p.Asp5Asn), rs1399081375, ClinGen CA402943001, ClinVar RCV002389244, ClinVar RCV003095092, REVEL 0.16, MetaLR 0.18, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- D5V (p.Asp5Val), gnomAD rs1178249537, Uncertain significance
- D5Y (p.Asp5Tyr), gnomAD 19-1206926-G-T, REVEL 0.26, MetaLR 0.22
- D5D (p.Asp5Asp), rs786201498, gnomAD 19-1206928-C-T, AlphaMissense 0.07, MetaLR 0.09
- P6A (p.Pro6Ala), gnomAD rs1360284524, Uncertain significance
- P6L (p.Pro6Leu), rs775346785, ClinGen CA402943039, ClinVar RCV001213601, ClinVar RCV001525629, AlphaMissense 0.09, MetaLR 0.13, Uncertain significance, Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- P6R (p.Pro6Arg), rs775346785, ClinGen CA046464, ClinVar RCV000802367, ClinVar RCV001013222, REVEL 0.09, AlphaMissense 0.09, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- P6S (p.Pro6Ser), rs1360284524, ClinGen CA402943037, ClinVar RCV001898858, ClinVar RCV002407038, REVEL 0.03, AlphaMissense 0.07, Conflicting interpretations, not specified; Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- P6T (p.Pro6Thr), rs1360284524, ClinGen CA402943031, ClinVar RCV000807083, gnomAD rs1360284524, AlphaMissense 0.07, MetaLR 0.09, Uncertain significance, Peutz-Jeghers syndrome
- P6Q (p.Pro6Gln), gnomAD 19-1206930-C-A, REVEL 0.06, MetaLR 0.16
- P6P (p.Pro6Pro), rs1555734869, gnomAD 19-1206931-G-A, CADD 13.50
- Q7* (p.Gln7Ter), rs2080669968, ClinGen CA402943051, ClinVar RCV001890059, Ensembl rs2080669968, AlphaMissense 0.09, MetaLR 0.19, Pathogenic
- Q7E (p.Gln7Glu), Ensembl rs2080669968, Pathogenic
- Q7H (p.Gln7His), Ensembl rs2145404466
- Q7K (p.Gln7Lys), Ensembl rs2080669968, REVEL 0.10, AlphaMissense 0.09, Uncertain significance, Peutz-Jeghers syndrome
- Q7L (p.Gln7Leu), Ensembl rs2145404457, Uncertain significance, Peutz-Jeghers syndrome
- Q7P (p.Gln7Pro), Ensembl rs2145404457, Uncertain significance
- Q7R (p.Gln7Arg), rs2145404457, ClinGen CA402943055, ClinVar RCV002040911, Ensembl rs2145404457, REVEL 0.08, MetaLR 0.18, Uncertain significance, Peutz-Jeghers syndrome
- Q7Q (p.Gln7Gln), rs2145404466, gnomAD 19-1206934-G-A, CADD 12.50
- Q8* (p.Gln8Ter), ExAC rs760588289, gnomAD rs760588289, CADD 36.00, Uncertain significance
- Q8E (p.Gln8Glu), rs760588289, ClinGen CA046619, ClinVar RCV000632809, ClinVar RCV001015109, REVEL 0.03, MetaLR 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Q8H (p.Gln8His), rs1379630288, ClinGen CA402943086, ClinVar RCV000554676, ClinVar RCV004023776, REVEL 0.03, MetaLR 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q8K (p.Gln8Lys), rs760588289, ClinGen CA402943072, ClinVar RCV002833003, ExAC rs760588289, REVEL 0.03, MetaLR 0.14, Uncertain significance, Peutz-Jeghers syndrome
- Q8L (p.Gln8Leu), Ensembl rs2145404475
- Q8P (p.Gln8Pro), Ensembl rs2145404475
- Q8R (p.Gln8Arg), gnomAD 19-1206936-A-G, REVEL 0.02, MetaLR 0.15
- L9M (p.Leu9Met), gnomAD rs876661079, REVEL 0.08, MetaLR 0.17, Likely benign
- L9P (p.Leu9Pro), rs764154797, ClinGen CA046750, ClinVar RCV003337821, ClinVar RCV003368073, REVEL 0.23, AlphaMissense 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- L9Q (p.Leu9Gln), rs764154797, ClinGen CA402943096, ClinVar RCV001190513, ClinVar RCV001247437, AlphaMissense 0.09, MetaLR 0.23, Uncertain significance, Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- L9V (p.Leu9Val), rs876661079, ClinGen CA10577590, ClinVar RCV000221102, ClinVar RCV001016064, REVEL 0.07, MetaLR 0.15, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Carcinoma of pancreas; Peutz-Jeghers sy
- L9L (p.Leu9Leu), rs876661079, gnomAD 19-1206938-C-T, CADD 11.20
- G10A (p.Gly10Ala), Ensembl rs2080670108, Uncertain significance
- G10C (p.Gly10Cys), Ensembl rs2145404498, AlphaMissense 0.19, CADD 12.60, Uncertain significance
- G10D (p.Gly10Asp), Ensembl rs2080670108, REVEL 0.09, MetaLR 0.15, Uncertain significance
- G10R (p.Gly10Arg), rs2145404498, ClinGen CA402943107, ClinVar RCV004518459, Ensembl rs2145404498, AlphaMissense 0.12, MetaLR 0.31, Uncertain significance, Hereditary cancer-predisposing syndrome
- G10S (p.Gly10Ser), rs2145404498, ClinGen CA402943106, ClinVar RCV002438054, Ensembl rs2145404498, AlphaMissense 0.06, CADD 13.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- G10V (p.Gly10Val), rs2080670108, ClinGen CA402943109, ClinVar RCV001337492, Ensembl rs2080670108, CADD 3.87, SIFT 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- G10G (p.Gly10Gly), rs876660012, gnomAD 19-1206943-C-A, CADD 10.30
- M11I (p.Met11Ile), rs757411357, ClinGen CA047149, ClinVar RCV000217440, ClinVar RCV001808579, REVEL 0.04, MetaLR 0.16, Uncertain significance, Hereditary cancer-predisposing syndrome
- M11K (p.Met11Lys), Ensembl rs2145404514
- M11L (p.Met11Leu), rs753834428, ClinGen CA402943119, ClinVar RCV000695432, ClinVar RCV001019148, REVEL 0.07, MetaLR 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome; See cases; not specified
- M11R (p.Met11Arg), Ensembl rs2145404514
- M11T (p.Met11Thr), rs2145404514, ClinGen CA402943126, ClinVar RCV002326216, AlphaMissense 0.12, MetaLR 0.16, Uncertain significance, Hereditary cancer-predisposing syndrome
- M11V (p.Met11Val), rs753834428, ClinGen CA047107, ClinVar RCV000222194, ClinVar RCV000232648, REVEL 0.08, MetaLR 0.12, Uncertain significance, not provided; Melanoma, cutaneous malignant, susceptibility to, 1; Hereditary ca
- F12C (p.Phe12Cys), Ensembl rs2145404531
- F12I (p.Phe12Ile), Ensembl rs2145404527
- F12L (p.Phe12Leu), Ensembl rs2145404533, REVEL 0.15, MetaLR 0.10, Likely benign
- F12Y (p.Phe12Tyr), gnomAD 19-1206948-T-A, REVEL 0.19, MetaLR 0.20
- F12F (p.Phe12Phe), rs2145404533, gnomAD 19-1206949-C-T, CADD 10.10
- T13A (p.Thr13Ala), rs2145404536, ClinGen CA402943161, ClinVar RCV002034956, Ensembl rs2145404536, AlphaMissense 0.06, MetaLR 0.09, Uncertain significance, Peutz-Jeghers syndrome
- T13M (p.Thr13Met), rs1599914790, ClinGen CA402943176, ClinVar RCV000820072, ClinVar RCV001181154, REVEL 0.09, AlphaMissense 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- T13R (p.Thr13Arg), rs1599914790, ClinGen CA402943169, ClinVar RCV001897931, Ensembl rs1599914790, AlphaMissense 0.09, MetaLR 0.16, Uncertain significance, Peutz-Jeghers syndrome
- T13S (p.Thr13Ser), Ensembl rs2145404536, Uncertain significance
- T13T (p.Thr13Thr), rs765330434, gnomAD 19-1206952-G-A, AlphaMissense 0.21, MetaLR 0.17
- E14* (p.Glu14Ter), Ensembl rs2145404557, AlphaMissense 0.14, MetaLR 0.18
- E14D (p.Glu14Asp), rs758769888, ClinGen CA402943205, ClinVar RCV003187693, ClinVar RCV006612905, REVEL 0.06, AlphaMissense 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- E14G (p.Glu14Gly), rs750708224, ClinGen CA022924, ClinVar RCV000165124, ClinVar RCV000632805, REVEL 0.34, MetaLR 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; not provided
- E14K (p.Glu14Lys), rs2145404557, cosmic curated COSV58828, UniProt VAR 065627, Ensembl rs2145404557, AlphaMissense 0.14, MetaLR 0.18, Uncertain significance, in cervical cancer
- E14Q (p.Glu14Gln), cosmic curated COSV58830, Ensembl rs2145404557
- E14V (p.Glu14Val), ExAC rs750708224, gnomAD rs750708224, Uncertain significance, in cervical cancer
- E14E (p.Glu14Glu), rs758769888, gnomAD 19-1206955-G-A, AlphaMissense 0.07, MetaLR 0.10
- G15A (p.Gly15Ala), gnomAD rs1458974438, Uncertain significance
- G15C (p.Gly15Cys), Ensembl rs1060499970, Uncertain significance
- G15D (p.Gly15Asp), rs1458974438, ClinGen CA402943230, ClinVar RCV000533697, ClinVar RCV002330840, REVEL 0.06, MetaLR 0.14, Uncertain significance, Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- G15R (p.Gly15Arg), Ensembl rs1060499970, Uncertain significance
- G15S (p.Gly15Ser), rs1060499970, ClinGen CA16616212, cosmic curated COSV58827, ClinVar RCV000471272, REVEL 0.07, AlphaMissense 0.12, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- G15V (p.Gly15Val), gnomAD rs1458974438, Uncertain significance
- G15G (p.Gly15Gly), rs786201234, gnomAD 19-1206958-C-T, CADD 10.60
- E16* (p.Glu16Ter), gnomAD rs1179004732, Uncertain significance, in PJS
- E16D (p.Glu16Asp), TOPMed rs969419908, gnomAD rs969419908, REVEL 0.05, MetaLR 0.13, Uncertain significance, not provided
- E16G (p.Glu16Gly), rs2145404592, UniProt VAR 065628, Ensembl rs2145404592, AlphaMissense 0.38, MetaLR 0.19, Pathogenic, in PJS
- E16K (p.Glu16Lys), rs1179004732, ClinGen CA402943242, ClinVar RCV001238406, gnomAD rs1179004732, REVEL 0.28, MetaLR 0.19, Uncertain significance, Peutz-Jeghers syndrome
- E16Q (p.Glu16Gln), gnomAD rs1179004732, Uncertain significance, in PJS
- E16V (p.Glu16Val), Ensembl rs2145404592
- E16E (p.Glu16Glu), rs969419908, gnomAD 19-1206961-G-A, CADD 13.60
- L17M (p.Leu17Met), ExAC rs780581573, gnomAD rs780581573, Likely benign
- L17P (p.Leu17Pro), rs2080670397, ClinGen CA402943310, ClinVar RCV001068126, Ensembl rs2080670397, AlphaMissense 0.21, MetaLR 0.36, Uncertain significance, Peutz-Jeghers syndrome
- L17Q (p.Leu17Gln), Ensembl rs2080670397, Uncertain significance
- L17R (p.Leu17Arg), cosmic curated COSV10464, Ensembl rs2080670397, Uncertain significance
- L17V (p.Leu17Val), rs780581573, ClinGen CA047985, ClinVar RCV000526066, ClinVar RCV000774552, REVEL 0.15, MetaLR 0.21, Uncertain significance, Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome; Melanoma, cutan
- L17L (p.Leu17Leu), rs780581573, gnomAD 19-1206962-C-T, CADD 13.60
- M18I (p.Met18Ile), rs755436889, NCI-TCGA TCGA novel, ClinGen CA048056, ClinVar RCV001024190, REVEL 0.17, MetaLR 0.18, Uncertain significance, Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- M18K (p.Met18Lys), Ensembl rs1555734894, Uncertain significance
- M18L (p.Met18Leu), rs587782318, Ensembl rs587782318, ClinGen CA023063, ClinVar RCV000131221, REVEL 0.22, MetaLR 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- M18R (p.Met18Arg), Ensembl rs1555734894, Uncertain significance
- M18T (p.Met18Thr), rs1555734894, ClinGen CA089423, ClinVar RCV000575786, ClinVar RCV000798678, REVEL 0.28, MetaLR 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- M18V (p.Met18Val), Ensembl rs587782318, Uncertain significance
- S19* (p.Ser19Ter), cosmic curated COSV58823, gnomAD rs1426026332, Uncertain significance
- S19A (p.Ser19Ala), Ensembl rs2145404634
- S19L (p.Ser19Leu), rs1426026332, ClinGen CA402943356, ClinVar RCV000663263, ClinVar RCV000777388, REVEL 0.39, MetaLR 0.48, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; Peutz-Jeghers syndrome
- S19P (p.Ser19Pro), NCI-TCGA TCGA novel, Ensembl rs2145404634, Variant assessed as somatic; moderate impact.
- S19T (p.Ser19Thr), Ensembl rs2145404634
- S19W (p.Ser19Trp), gnomAD rs1426026332, Uncertain significance
- S19S (p.Ser19Ser), rs748698151, gnomAD 19-1206970-G-A, AlphaMissense 0.12, MetaLR 0.54
- V20E (p.Val20Glu), Ensembl rs2145404656
- V20L (p.Val20Leu), rs1555734898, ClinGen CA402943365, ClinVar RCV000542775, ClinVar RCV003278882, AlphaMissense 0.16, MetaLR 0.45, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- V20M (p.Val20Met), rs1555734898, ClinGen CA402943363, ClinVar RCV000707650, ClinVar RCV002352225, REVEL 0.43, AlphaMissense 0.16, Uncertain significance, Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- G21A (p.Gly21Ala), rs2145404676, ClinGen CA402943392, ClinVar RCV003187697, Ensembl rs2145404676, AlphaMissense 0.47, MetaLR 0.52, Uncertain significance, Hereditary cancer-predisposing syndrome
- G21C (p.Gly21Cys), rs1064793751, ClinGen CA402943379, ClinVar RCV001039056, ClinVar RCV005286275, AlphaMissense 0.19, MetaLR 0.52, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- G21D (p.Gly21Asp), Ensembl rs2145404676, Uncertain significance
- G21R (p.Gly21Arg), TOPMed rs1064793751, gnomAD rs1064793751, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- G21S (p.Gly21Ser), rs1064793751, ClinGen CA089436, ClinVar RCV000485517, ClinVar RCV000776368, REVEL 0.41, AlphaMissense 0.47, Uncertain significance, Hereditary cancer-predisposing syndrome; Germ cell tumor of testis; Peutz-Jegher
- G21V (p.Gly21Val), rs2145404676, ClinGen CA402943402, ClinVar RCV002368786, Ensembl rs2145404676, AlphaMissense 0.47, MetaLR 0.52, Uncertain significance, Hereditary cancer-predisposing syndrome
- M22I (p.Met22Ile), rs1599914859, Ensembl rs1599914859, ClinGen CA402943433, ClinVar RCV000801710, AlphaMissense 0.47, MetaLR 0.53, Uncertain significance, Peutz-Jeghers syndrome
- M22L (p.Met22Leu), gnomAD rs1174992777, Uncertain significance
- M22R (p.Met22Arg), rs1599914854, ClinGen CA402943423, ClinVar RCV001025447, ClinVar RCV005093262, AlphaMissense 0.41, MetaLR 0.46, Uncertain significance, Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- M22V (p.Met22Val), rs1174992777, ClinGen CA402943405, ClinVar RCV001025339, ClinVar RCV001044306, REVEL 0.40, MetaLR 0.49, Uncertain significance, Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- D23E (p.Asp23Glu), rs1599914867, ClinGen CA402943473, ClinVar RCV001025894, ClinVar RCV001284358, AlphaMissense 0.41, MetaLR 0.52, Uncertain significance, Peutz-Jeghers syndrome
- D23G (p.Asp23Gly), Ensembl rs2145404710
- D23H (p.Asp23His), rs2080670686, ClinGen CA402943450, ClinVar RCV001218270, Ensembl rs2080670686, AlphaMissense 0.82, MetaLR 0.73, Uncertain significance, Peutz-Jeghers syndrome
- D23N (p.Asp23Asn), rs2080670686, ClinGen CA402943442, ClinVar RCV001991318, Ensembl rs2080670686, AlphaMissense 0.82, MetaLR 0.73, Uncertain significance, Peutz-Jeghers syndrome
- D23D (p.Asp23Asp), rs1599914867, gnomAD 19-1206982-C-T, AlphaMissense 0.41, MetaLR 0.52
- T24A (p.Thr24Ala), rs2145404724, ClinGen CA402943482, ClinVar RCV001371939, Ensembl rs2145404724, AlphaMissense 0.13, MetaLR 0.58, Uncertain significance, Peutz-Jeghers syndrome
- T24K (p.Thr24Lys), ExAC rs770503805, TOPMed rs770503805, gnomAD rs770503805, Uncertain significance
- T24M (p.Thr24Met), rs770503805, ClinGen CA048511, ClinVar RCV000472539, ClinVar RCV000568581, REVEL 0.47, AlphaMissense 0.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Melanoma, cutaneous malig
- T24P (p.Thr24Pro), Ensembl rs2145404724, Uncertain significance
- T24R (p.Thr24Arg), rs770503805, ClinGen CA402943491, ClinVar RCV000772378, ClinVar RCV001295486, AlphaMissense 0.20, MetaLR 0.49, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- T24S (p.Thr24Ser), Ensembl rs2145404724, Uncertain significance
- F25C (p.Phe25Cys), Ensembl rs2145404757
- F25I (p.Phe25Ile), Ensembl rs2145404749, Uncertain significance
- F25L (p.Phe25Leu), rs2145404749, ClinGen CA402943494, ClinVar RCV002384882, Ensembl rs2145404749, REVEL 0.53, AlphaMissense 0.94, Uncertain significance, Hereditary cancer-predisposing syndrome
- F25S (p.Phe25Ser), Ensembl rs2145404757
- F25V (p.Phe25Val), Ensembl rs2145404749, Uncertain significance
- F25Y (p.Phe25Tyr), Ensembl rs2145404757
- F25F (p.Phe25Phe), rs1466484547, gnomAD 19-1206988-C-T, CADD 14.20
- I26M (p.Ile26Met), Ensembl rs2145404772, Likely benign
- I26V (p.Ile26Val), rs1555734913, ClinGen CA402943520, ClinVar RCV000527741, ClinVar RCV002404387, AlphaMissense 0.79, MetaLR 0.61, Uncertain significance, Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- I26I (p.Ile26Ile), rs2145404772, gnomAD 19-1206991-C-T, AlphaMissense 0.50, MetaLR 0.65
- H27L (p.His27Leu), Ensembl rs2145404786
- H27N (p.His27Asn), Ensembl rs2145404781
- H27P (p.His27Pro), Ensembl rs2145404786
- H27Q (p.His27Gln), Ensembl rs2080670824, REVEL 0.54, AlphaMissense 0.98, Uncertain significance, Peutz-Jeghers syndrome
- R28C (p.Arg28Cys), Ensembl rs2145404808
- R28G (p.Arg28Gly), Ensembl rs2145404808
- R28H (p.Arg28His), rs1331020864, ClinGen CA089442, ClinVar RCV000792451, TOPMed rs1331020864, REVEL 0.65, MetaLR 0.56, Uncertain significance, Peutz-Jeghers syndrome
- R28L (p.Arg28Leu), TOPMed rs1331020864, gnomAD rs1331020864, Uncertain significance, Hereditary cancer-predisposing syndrome
- R28P (p.Arg28Pro), TOPMed rs1331020864, gnomAD rs1331020864, Uncertain significance, Peutz-Jeghers syndrome
- R28S (p.Arg28Ser), Ensembl rs2145404808
- R28R (p.Arg28Arg), rs778468876, gnomAD 19-1206997-C-T, CADD 14.00
- I29F (p.Ile29Phe), rs864622719, ClinGen CA348921, ClinVar RCV000204714, ClinVar RCV002267943, REVEL 0.42, MetaLR 0.57, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; Peutz-Jeghers syndrome
- I29L (p.Ile29Leu), Ensembl rs864622719, Uncertain significance
- I29M (p.Ile29Met), ExAC rs745530022, gnomAD rs745530022, Uncertain significance, Peutz-Jeghers syndrome
- I29N (p.Ile29Asn), Ensembl rs2145404824
- I29V (p.Ile29Val), Ensembl rs864622719, Uncertain significance
- I29I (p.Ile29Ile), rs745530022, gnomAD 19-1207000-C-A, CADD 11.70
- D30A (p.Asp30Ala), cosmic curated COSV10522, Ensembl rs2145404836
- D30E (p.Asp30Glu), rs771765869, ClinGen CA049487, ClinVar RCV000572006, ClinVar RCV001809609, AlphaMissense 0.83, MetaLR 0.53, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- D30G (p.Asp30Gly), Ensembl rs2145404836
- D30H (p.Asp30His), Ensembl rs2145404834, REVEL 0.78, MetaLR 0.68
- D30N (p.Asp30Asn), Ensembl rs2145404834
- D30V (p.Asp30Val), Ensembl rs2145404836
- D30D (p.Asp30Asp), rs771765869, gnomAD 19-1207003-C-T, AlphaMissense 0.83, MetaLR 0.53
- S31A (p.Ser31Ala), rs2512920882, ClinGen CA402943676, ClinVar RCV002913951, Uncertain significance, Peutz-Jeghers syndrome
- S31C (p.Ser31Cys), Ensembl rs2145404849, Uncertain significance
- S31F (p.Ser31Phe), rs2145404849, ClinVar RCV004573677, ClinVar RCV006292541, Ensembl rs2145404849, AlphaMissense 0.95, MetaLR 0.76, Uncertain significance, Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- S31Y (p.Ser31Tyr), rs2145404849, ClinGen CA402943688, ClinVar RCV004013331, Ensembl rs2145404849, AlphaMissense 0.95, MetaLR 0.76, Uncertain significance, Peutz-Jeghers syndrome
- S31S (p.Ser31Ser), rs775258601, gnomAD 19-1207006-C-A, CADD 14.20
- T32A (p.Thr32Ala), rs755210880, ClinGen CA049791, ClinVar RCV000229700, ClinVar RCV000479327, REVEL 0.25, MetaLR 0.45, Conflicting interpretations, Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Ger
- T32I (p.Thr32Ile), rs2145404870, ClinGen CA402943719, ClinVar RCV003618452, ClinVar RCV004574250, REVEL 0.30, MetaLR 0.55, Uncertain significance, Melanoma, cutaneous malignant, susceptibility to, 1; Peutz-Jeghers syndrome; Her
Public STK11 analysis runs
- STK11 analysis run — STK11 (2,273 variants) — completed 2026-08-10