APC (Adenomatous polyposis coli protein) variants and mutations
APC (also known as Adenomatous polyposis coli protein) is a human protein-coding gene encoding an adenomatous polyposis coli protein. A tumor-suppressor protein that promotes the removal of beta-catenin and helps keep Wnt signaling under control. It also organizes microtubules and actin in the cell, and inherited APC disruption is strongly associated with familial adenomatous polyposis and colorectal tumor risk. This analysis covers 14,982 APC variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes familial adenomatous polyposis 1, Familial adenomatous polyposis, and Desmoid-type fibromatosis. Example APC variants include M1I, A2D, and A2G.
Variant analysis overview
- Gene: APC
- Protein: Adenomatous polyposis coli protein
- UniProt accession: P25054
- Organism: Homo sapiens
- Variants analyzed: 14982
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 14,748 unspecified-consequence records; 131 missense variants; 84 synonymous variants; 8 frameshift variants; 7 stop-gained variants; 1 splice-region variants; 2 in-frame deletions; 1 protein altering variant
- Prediction scores: 13,935 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial adenomatous polyposis 1, Familial adenomatous polyposis, Desmoid-type fibromatosis, colorectal adenocarcinoma, classic familial adenomatous polyposis, colon carcinoma, gastric adenocarcinoma and proximal polyposis of the stomach, colorectal cancer, colonic neoplasm, hepatocellular carcinoma, gastric cancer, classic or attenuated familial adenomatous polyposis.
Protein structure and variant hotspots
- Protein features: 42 post-translational modification sites.
- PTM context: 220 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, gnomAD constraint, Open Targets, ClinGen, PharmGKB, MaveDB, LitVar.
Notable APC variants
Examples include M1I, A2D, A2G, A2P, A2S, A2T, A2V, A3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2149737180, ClinGen CA16021341, ClinVar RCV004565503, ESM-1b 1.00, AlphaMissense 0.82, Uncertain significance, Familial adenomatous polyposis 1
- A2D (p.Ala2Asp), NCI-TCGA Cosmic COSV5732, cosmic curated COSV57323, Ensembl rs2149737216, ESM-1b 0.00, AlphaMissense 0.73, Uncertain significance
- A2G (p.Ala2Gly), rs2149737216, ClinGen CA16021347, ClinVar RCV001525186, Ensembl rs2149737216, ESM-1b 0.00, AlphaMissense 0.32, Uncertain significance
- A2P (p.Ala2Pro), 1000Genomes rs569523442, ExAC rs569523442, gnomAD rs569523442, ESM-1b 0.00, AlphaMissense 0.61, Uncertain significance
- A2S (p.Ala2Ser), 1000Genomes rs569523442, ExAC rs569523442, gnomAD rs569523442, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance
- A2T (p.Ala2Thr), rs569523442, ClinGen CA040361, ClinVar RCV003770735, 1000Genomes rs569523442, REVEL 0.46, ESM-1b 0.00, Uncertain significance
- A2V (p.Ala2Val), Ensembl rs2149737216, REVEL 0.49, ESM-1b 0.00, Uncertain significance, Familial adenomatous polyposis 1
- A3E (p.Ala3Glu), rs2149737259, ClinGen CA16021352, ClinVar RCV003865487, ESM-1b 0.00, AlphaMissense 0.31, Uncertain significance, Familial adenomatous polyposis 1
- A3G (p.Ala3Gly), Ensembl rs2149737259, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Familial adenomatous polyposis 1
- A3P (p.Ala3Pro), Ensembl rs2149737242, REVEL 0.30, ESM-1b 0.00, Uncertain significance
- A3T (p.Ala3Thr), rs2149737242, ClinGen CA16021349, NCI-TCGA Cosmic COSV5734, cosmic curated COSV57340, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 1
- A3V (p.Ala3Val), rs2149737259, ClinGen CA16021354, ClinVar RCV002376345, ClinVar RCV004005785, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Classic or attenuated familial adenomatous polyposis; Hereditary cancer-predispo
- A3S (p.Ala3Ser), rs1170818329, gnomAD 5-112707724-G-T, REVEL 0.23, ESM-1b 0.00
- A3A (p.Ala3Ala), rs1750602563, gnomAD 5-112707726-C-T, CADD 12.40
- A4G (p.Ala4Gly), Ensembl rs2149737293, REVEL 0.17, ESM-1b 0.00
- A4P (p.Ala4Pro), rs774219012, ClinGen CA026700, ClinVar RCV000677758, ClinVar RCV001017299, REVEL 0.34, ESM-1b 0.00, Uncertain significance
- A4S (p.Ala4Ser), rs774219012, ClinGen CA16021356, cosmic curated COSV57388, ClinVar RCV000562185, REVEL 0.21, ESM-1b 0.00, Uncertain significance
- A4T (p.Ala4Thr), rs774219012, ClinGen CA16021355, NCI-TCGA Cosmic COSV5738, cosmic curated COSV57383, ESM-1b 0.00, AlphaMissense 0.54, Uncertain significance
- A4V (p.Ala4Val), Ensembl rs2149737293, REVEL 0.09, ESM-1b 0.00
- S5* (p.Ser5Ter), rs373718658, ESP rs373718658, ExAC rs373718658, TOPMed rs373718658, CADD 36.00, Pathogenic
- S5L (p.Ser5Leu), rs373718658, ClinGen CA028004, cosmic curated COSV10875, ClinVar RCV000589294, REVEL 0.36, ESM-1b 0.00, Pathogenic
- S5T (p.Ser5Thr), Ensembl rs2149737315, ESM-1b 0.00, AlphaMissense 0.23
- S5C (p.Ser5Cys), gnomAD 5-112707728-C-G, REVEL 0.17, CADD 12.80
- S5Y (p.Ser5Tyr), gnomAD 5-112707728-C-A, REVEL 0.15, CADD 11.50
- S5A (p.Ser5Ala), rs2149630527, gnomAD 5-112707736-T-G, REVEL 0.19, CADD 21.90
- S5S (p.Ser5Ser), rs2149630537, gnomAD 5-112707738-G-T, CADD 11.00
- Y6* (p.Tyr6Ter), rs786202301, ClinGen CA16021372, ClinVar RCV004565047, TOPMed rs786202301, Pathogenic
- Y6C (p.Tyr6Cys), rs1754781754, ClinGen CA16021369, ClinVar RCV004565472, TOPMed rs1754781754, ESM-1b 0.00, AlphaMissense 0.97, Uncertain significance, Familial adenomatous polyposis 1
- Y6F (p.Tyr6Phe), TOPMed rs1754781754, ESM-1b 0.00, AlphaMissense 0.59, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y6H (p.Tyr6His), rs2149737356, ClinGen CA16021366, ClinVar RCV003585134, ClinVar RCV004574142, ESM-1b 0.00, AlphaMissense 0.98, Uncertain significance, Familial adenomatous polyposis 1; Hereditary cancer-predisposing syndrome
- Y6N (p.Tyr6Asn), Ensembl rs2149737356, REVEL 0.53, ESM-1b 0.00
- Y6Y (p.Tyr6Tyr), rs2149630471, gnomAD 5-112707723-C-T, CADD 8.84
- D7E (p.Asp7Glu), Ensembl rs2149737434, ESM-1b 0.00, AlphaMissense 0.75, Benign
- D7G (p.Asp7Gly), rs1060503296, ClinGen CA16021377, ClinVar RCV004022877, ClinVar RCV004564075, ESM-1b 0.00, AlphaMissense 0.88, Uncertain significance
- D7H (p.Asp7His), Ensembl rs2149737402, ESM-1b 0.00, AlphaMissense 0.96
- D7N (p.Asp7Asn), cosmic curated COSV57362, Ensembl rs2149737402, ESM-1b 0.00, AlphaMissense 0.83
- D7V (p.Asp7Val), Ensembl rs1060503296, REVEL 0.49, ESM-1b 0.00, Uncertain significance
- D7Y (p.Asp7Tyr), Ensembl rs2149737402, REVEL 0.45, ESM-1b 0.81
- Q8* (p.Gln8Ter), rs1554067110, ClinGen CA16021383, ClinVar RCV000566225, Ensembl rs1554067110, AlphaMissense 0.13, MetaLR 0.17, Uncertain significance
- Q8E (p.Gln8Glu), Ensembl rs1554067110, REVEL 0.30, ESM-1b 0.00, Uncertain significance
- Q8H (p.Gln8His), Ensembl rs2149737469, ESM-1b 0.00, AlphaMissense 0.56, Likely benign
- Q8K (p.Gln8Lys), Ensembl rs1554067110, ESM-1b 0.00, AlphaMissense 0.46, Uncertain significance
- Q8L (p.Gln8Leu), Ensembl rs1754782964, ESM-1b 0.00, AlphaMissense 0.43, Uncertain significance
- Q8R (p.Gln8Arg), rs1754782964, ClinGen CA16021385, ClinVar RCV002445215, ClinVar RCV004570106, ESM-1b 0.00, AlphaMissense 0.43, Uncertain significance
- L9F (p.Leu9Phe), Ensembl rs2149737508, REVEL 0.45, ESM-1b 1.00
- L9M (p.Leu9Met), Ensembl rs2149737483, ESM-1b 0.84, AlphaMissense 0.90
- L9V (p.Leu9Val), Ensembl rs2149737483, ESM-1b 0.54, AlphaMissense 0.91, Uncertain significance, Familial adenomatous polyposis 1
- L9P (p.Leu9Pro), rs1398906441, gnomAD 5-112707731-T-C, REVEL 0.24, CADD 17.20
- L9L (p.Leu9Leu), gnomAD 5-112707732-G-T, CADD 10.60
- L10* (p.Leu10Ter), Ensembl rs2149737533
- L10F (p.Leu10Phe), Ensembl rs2149737554, ESM-1b 0.72, AlphaMissense 0.94
- L10I (p.Leu10Ile), Ensembl rs2149737524, ESM-1b 0.00, AlphaMissense 0.49
- L10V (p.Leu10Val), Ensembl rs2149737524, ESM-1b 0.00, AlphaMissense 0.40, Uncertain significance, Familial adenomatous polyposis 1; Hereditary cancer-predisposing syndrome
- K11* (p.Lys11Ter), rs2149737581, ClinGen CA16021405, ClinVar RCV004572569, Ensembl rs2149737581, Pathogenic
- K11M (p.Lys11Met), Ensembl rs2149737590, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- K11N (p.Lys11Asn), rs2149737598, Ensembl rs2149737598, ClinGen CA16021410, ClinVar RCV002452062, REVEL 0.17, ESM-1b 0.00, Benign
- Q12* (p.Gln12Ter), rs2149737617, ClinGen CA16021413, ClinVar RCV004574292, Ensembl rs2149737617, AlphaMissense 0.81, MetaLR 0.17, Pathogenic
- Q12E (p.Gln12Glu), Ensembl rs2149737617, ESM-1b 0.00, AlphaMissense 0.34, Pathogenic
- Q12H (p.Gln12His), gnomAD rs864622288, ESM-1b 0.00, AlphaMissense 0.96, Benign
- Q12K (p.Gln12Lys), Ensembl rs2149737617, ESM-1b 0.00, AlphaMissense 0.84, Pathogenic
- Q12L (p.Gln12Leu), Ensembl rs1754783765, ESM-1b 0.00, AlphaMissense 0.91, Uncertain significance
- Q12R (p.Gln12Arg), rs1754783765, ClinGen CA16021415, ClinVar RCV004564692, Ensembl rs1754783765, ESM-1b 0.09, AlphaMissense 0.86, Uncertain significance
- Q12Q (p.Gln12Gln), rs864622288, gnomAD 5-112754926-A-G, CADD 10.70
- V13D (p.Val13Asp), Ensembl rs2149737669, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- V13G (p.Val13Gly), NCI-TCGA TCGA novel, Ensembl rs2149737669, ESM-1b 1.00, AlphaMissense 0.94, Variant assessed as somatic; moderate impact.
- V13I (p.Val13Ile), cosmic curated COSV57386, Ensembl rs2149737659, ESM-1b 0.00, AlphaMissense 0.80
- V13L (p.Val13Leu), Ensembl rs2149737659, REVEL 0.30, ESM-1b 0.00
- V13F (p.Val13Phe), rs1397116635, gnomAD 5-112707745-G-T, REVEL 0.29, CADD 23.40
- V13V (p.Val13Val), rs917976853, gnomAD 5-112707747-C-A, CADD 11.20
- V13A (p.Val13Ala), gnomAD 5-112707767-T-C, REVEL 0.21, CADD 17.10
- E14* (p.Glu14Ter), Ensembl rs2149737690
- E14D (p.Glu14Asp), Ensembl rs1554067113, ESM-1b 0.00, AlphaMissense 0.71, Likely benign
- E14G (p.Glu14Gly), Ensembl rs2149737706, ESM-1b 0.93, AlphaMissense 0.73, Uncertain significance
- E14Q (p.Glu14Gln), cosmic curated COSV10456, Ensembl rs2149737690, ESM-1b 0.00, AlphaMissense 0.49
- E14V (p.Glu14Val), rs2149737706, ClinGen CA16021430, ClinVar RCV003463400, Ensembl rs2149737706, ESM-1b 1.00, AlphaMissense 0.86, Uncertain significance, Familial adenomatous polyposis 1
- A15G (p.Ala15Gly), gnomAD rs1064793466, REVEL 0.26, ESM-1b 0.00, Uncertain significance
- A15S (p.Ala15Ser), Ensembl rs2149737738, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Familial adenomatous polyposis 1
- A15T (p.Ala15Thr), cosmic curated COSV10723, REVEL 0.27, ESM-1b 0.00, Uncertain significance, Familial adenomatous polyposis 1
- A15V (p.Ala15Val), rs1064793466, ClinGen CA16021438, ClinVar RCV000485888, ClinVar RCV003298544, REVEL 0.20, ESM-1b 0.00, Uncertain significance
- A15A (p.Ala15Ala), rs1750604976, gnomAD 5-112707750-C-G, CADD 10.50
- L16P (p.Leu16Pro), rs1581121721, ClinGen CA16021442, ClinVar RCV004562658, ClinVar RCV004659215, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance
- L16Q (p.Leu16Gln), Ensembl rs1581121721, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance
- L16V (p.Leu16Val), rs1057520603, ClinGen CA16021440, ClinVar RCV004564854, gnomAD rs1057520603, ESM-1b 0.98, AlphaMissense 0.96, Benign
- L16L (p.Leu16Leu), rs1057520603, gnomAD 5-112754936-C-T, AlphaMissense 0.96, MetaLR 0.12
- K17* (p.Lys17Ter), Ensembl rs2149737803
- K17M (p.Lys17Met), Ensembl rs2149737817, ESM-1b 1.00, AlphaMissense 0.92, Uncertain significance
- K17N (p.Lys17Asn), Ensembl rs1554067118, ESM-1b 0.29, AlphaMissense 0.98, Likely benign
- K17R (p.Lys17Arg), rs2149737817, ClinGen CA16021448, ClinVar RCV003776660, Ensembl rs2149737817, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance, Familial adenomatous polyposis 1
- M18I (p.Met18Ile), rs772873692, ExAC rs772873692, gnomAD rs772873692, ClinGen CA042134, REVEL 0.28, ESM-1b 0.00, Uncertain significance
- M18K (p.Met18Lys), rs200960071, ClinGen CA010386, ClinVar RCV000034418, ClinVar RCV000130887, REVEL 0.32, ESM-1b 0.00, Uncertain significance
- M18L (p.Met18Leu), rs587782402, ClinGen CA16021453, ClinVar RCV003278284, ESM-1b 0.00, AlphaMissense 0.28, Uncertain significance, Hereditary cancer-predisposing syndrome
- M18T (p.Met18Thr), ESP rs200960071, ExAC rs200960071, gnomAD rs200960071, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Familial adenomatous polyposis 1
- M18V (p.Met18Val), rs587782402, ClinGen CA010033, ClinVar RCV000131435, ClinVar RCV000502641, REVEL 0.26, ESM-1b 0.00, Uncertain significance
- E19* (p.Glu19Ter), rs1754786861, ClinGen CA16021460, ClinVar RCV004562104, TOPMed rs1754786861, AlphaMissense 0.99, MetaLR 0.17, Pathogenic
- E19A (p.Glu19Ala), rs1754787233, ClinGen CA16021461, cosmic curated COSV57359, ClinVar RCV004570243, ESM-1b 1.00, AlphaMissense 0.97, Uncertain significance
- E19D (p.Glu19Asp), rs1754787495, ClinGen CA16021465, cosmic curated COSV57381, ClinVar RCV004562058, ESM-1b 0.65, AlphaMissense 0.97, Benign
- E19G (p.Glu19Gly), rs1754787233, ClinGen CA16021462, ClinVar RCV002347544, ClinVar RCV004005700, ESM-1b 1.00, AlphaMissense 0.97, Uncertain significance
- E19K (p.Glu19Lys), rs1754786861, ClinGen CA16021458, cosmic curated COSV57349, ClinVar RCV001180468, ESM-1b 1.00, AlphaMissense 0.99, Pathogenic
- E19Q (p.Glu19Gln), TOPMed rs1754786861, REVEL 0.35, ESM-1b 0.34, Pathogenic
- N20D (p.Asn20Asp), rs760591046, ClinGen CA043346, ClinVar RCV004522927, ExAC rs760591046, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- N20I (p.Asn20Ile), Ensembl rs2149737923, ESM-1b 1.00, AlphaMissense 0.97, Uncertain significance
- N20K (p.Asn20Lys), TOPMed rs780155240, gnomAD rs780155240, ESM-1b 1.00, AlphaMissense 0.99, Benign
- N20T (p.Asn20Thr), rs2149737923, ClinGen CA16021468, ClinVar RCV004564877, ClinVar RCV004945833, REVEL 0.39, ESM-1b 1.00, Uncertain significance
- N20Y (p.Asn20Tyr), cosmic curated COSV10456, ExAC rs760591046, gnomAD rs760591046, REVEL 0.45, ESM-1b 1.00, Uncertain significance
- N20N (p.Asn20Asn), rs780155240, gnomAD 5-112754950-C-T, CADD 9.76
- S21* (p.Ser21Ter), rs1361289668, ClinGen CA16021476, cosmic curated COSV57381, ClinVar RCV003337651, CADD 36.00, Pathogenic
- S21L (p.Ser21Leu), gnomAD rs1361289668, ESM-1b 0.00, AlphaMissense 0.19, Pathogenic
- S21P (p.Ser21Pro), rs2149737957, ClinGen CA16021474, ClinVar RCV004571323, Ensembl rs2149737957, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Familial adenomatous polyposis 1
- S21T (p.Ser21Thr), Ensembl rs2149737957, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance
- S21C (p.Ser21Cys), rs1750606277, gnomAD 5-112707764-C-G, REVEL 0.20, CADD 17.80
- S21S (p.Ser21Ser), rs980704771, gnomAD 5-112707765-T-G, CADD 5.77
- S21F (p.Ser21Phe), rs770241997, gnomAD 5-112707788-C-T, REVEL 0.15, CADD 17.50
- N22D (p.Asn22Asp), rs1415062077, ClinGen CA16021480, ClinVar RCV000562861, ClinVar RCV000758737, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Familial adenomatous polyposis 1
- N22H (p.Asn22His), rs1415062077, ClinGen CA16021479, ClinVar RCV004563795, ClinVar RCV004649407, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance
- N22K (p.Asn22Lys), Ensembl rs2149738013, ESM-1b 0.00, AlphaMissense 0.71
- N22S (p.Asn22Ser), cosmic curated COSV57374, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- N22T (p.Asn22Thr), rs2532136686, ClinGen CA16021482, ClinVar RCV004571257, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance, Familial adenomatous polyposis 1
- L23F (p.Leu23Phe), ESP rs372367350, ExAC rs372367350, TOPMed rs372367350, gnomAD rs372367350, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance
- L23I (p.Leu23Ile), NCI-TCGA Cosmic COSV5734, cosmic curated COSV57344, ESP rs372367350, ExAC rs372367350, REVEL 0.22, ESM-1b 0.00, Uncertain significance
- L23V (p.Leu23Val), rs372367350, ClinGen CA046202, ClinVar RCV000575621, ClinVar RCV001797110, REVEL 0.23, ESM-1b 0.69, Uncertain significance
- L23P (p.Leu23Pro), rs1750607611, gnomAD 5-112707782-T-C, REVEL 0.19, CADD 15.30
- L23L (p.Leu23Leu), rs1422300065, gnomAD 5-112707783-C-A, CADD 4.71
- R24* (p.Arg24Ter), rs145945630, ClinGen CA012843, NCI-TCGA Cosmic COSV5733, cosmic curated COSV57372, CADD 36.00, Pathogenic
- R24G (p.Arg24Gly), ESP rs145945630, ExAC rs145945630, TOPMed rs145945630, gnomAD rs145945630, ESM-1b 0.64, AlphaMissense 0.98, Pathogenic
- R24L (p.Arg24Leu), rs878853469, ClinGen CA16021494, ClinVar RCV001026152, ClinVar RCV004564455, ESM-1b 0.00, AlphaMissense 0.56, Uncertain significance
- R24P (p.Arg24Pro), gnomAD rs878853469, REVEL 0.49, ESM-1b 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- R24Q (p.Arg24Gln), rs878853469, ClinGen CA10582272, cosmic curated COSV99074, ClinVar RCV003998687, REVEL 0.42, ESM-1b 0.00, Uncertain significance
- R24R (p.Arg24Arg), rs1302045127, gnomAD 5-112707808-A-C, CADD 2.28
- R24S (p.Arg24Ser), rs1242659289, gnomAD 5-112707810-G-T, REVEL 0.11, CADD 17.20
- R24C (p.Arg24Cys), rs755954869, gnomAD 5-112707850-C-T, REVEL 0.17, CADD 21.30
- R24H (p.Arg24His), rs1004213568, gnomAD 5-112707851-G-A, REVEL 0.15, CADD 20.10
- Q25E (p.Gln25Glu), gnomAD rs1231069533, ESM-1b 0.00, AlphaMissense 0.15
- Q25H (p.Gln25His), gnomAD rs876659361, ESM-1b 0.00, AlphaMissense 0.47, Benign
- Q25K (p.Gln25Lys), gnomAD rs1231069533, REVEL 0.25, ESM-1b 0.00
- Q25P (p.Gln25Pro), rs876658408, ClinGen CA16021498, ClinVar RCV002549054, ClinVar RCV005684912, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance
- Q25R (p.Gln25Arg), rs876658408, ClinGen CA10578281, ClinVar RCV000220479, Ensembl rs876658408, ESM-1b 0.00, AlphaMissense 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome; Desmoid disease, hereditary; Familial a
- Q25* (p.Gln25Ter), rs773941688, gnomAD 5-112707823-C-T, CADD 35.00
- Q25L (p.Gln25Leu), gnomAD 5-112707824-A-T, REVEL 0.20, CADD 11.30
- Q25Q (p.Gln25Gln), rs876659361, gnomAD 5-112754965-A-G, CADD 9.32
- E26* (p.Glu26Ter), cosmic curated COSV10443, CADD 23.00
- E26D (p.Glu26Asp), Ensembl rs1561444861, ESM-1b 0.00, AlphaMissense 0.95, Benign
- E26K (p.Glu26Lys), cosmic curated COSV10585, gnomAD rs1554067127, ESM-1b 0.00, AlphaMissense 0.98, Uncertain significance
- E26Q (p.Glu26Gln), rs1554067127, ClinGen CA16021503, ClinVar RCV000566833, ClinVar RCV002526867, REVEL 0.26, ESM-1b 0.00, Uncertain significance
- E26V (p.Glu26Val), Ensembl rs2149738156, REVEL 0.48, ESM-1b 0.23
- L27Q (p.Leu27Gln), Ensembl rs2149738192, REVEL 0.47, ESM-1b 0.75
- L27R (p.Leu27Arg), gnomAD 5-112754970-T-G, REVEL 0.48, ESM-1b 0.05
- L27L (p.Leu27Leu), rs759312196, gnomAD 5-112754971-A-G, CADD 9.37
- E28G (p.Glu28Gly), rs1754793089, ClinGen CA16021519, ClinVar RCV002553860, ClinVar RCV005453154, ESM-1b 0.00, AlphaMissense 0.48, Uncertain significance
- E28K (p.Glu28Lys), rs1754792844, ClinGen CA16021515, cosmic curated COSV57383, ClinVar RCV003770895, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance
- E28Q (p.Glu28Gln), rs1754792844, ClinGen CA16021516, ClinVar RCV004518486, Ensembl rs1754792844, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- D29A (p.Asp29Ala), rs1754793886, ClinGen CA16021526, ClinVar RCV004570477, Ensembl rs1754793886, ESM-1b 0.00, AlphaMissense 0.90, Uncertain significance
- D29E (p.Asp29Glu), rs1561444926, ClinGen CA16021530, ClinVar RCV004564318, Ensembl rs1561444926, REVEL 0.20, ESM-1b 0.00, Likely benign
- D29G (p.Asp29Gly), rs1754793886, ClinGen CA16021527, ClinVar RCV004562129, Ensembl rs1754793886, ESM-1b 0.00, AlphaMissense 0.90, Uncertain significance
- D29H (p.Asp29His), TOPMed rs1195191600, gnomAD rs1195191600, ESM-1b 0.00, AlphaMissense 0.81, Uncertain significance, Familial adenomatous polyposis 1
- D29N (p.Asp29Asn), TOPMed rs1195191600, gnomAD rs1195191600, ESM-1b 0.00, AlphaMissense 0.26, Uncertain significance
- D29V (p.Asp29Val), rs1754793886, ClinGen CA16021528, ClinVar RCV002372798, ClinVar RCV002552598, ESM-1b 0.00, AlphaMissense 0.90, Uncertain significance
- D29Y (p.Asp29Tyr), rs1195191600, ClinGen CA16021525, ClinVar RCV004564569, TOPMed rs1195191600, REVEL 0.44, ESM-1b 0.00, Uncertain significance
- N30D (p.Asn30Asp), rs1754795045, ClinGen CA16021532, ClinVar RCV004570203, ClinVar RCV004807294, REVEL 0.36, ESM-1b 1.00, Uncertain significance
- N30K (p.Asn30Lys), Ensembl rs2149738295, NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome
- N30Y (p.Asn30Tyr), cosmic curated COSV99965, Ensembl rs1754795045, REVEL 0.44, ESM-1b 0.00, Uncertain significance
- S31C (p.Ser31Cys), rs1270741856, ClinGen CA16021543, ClinVar RCV001019131, ClinVar RCV002469324, ESM-1b 0.11, AlphaMissense 0.97, Uncertain significance
- S31F (p.Ser31Phe), gnomAD rs1270741856, REVEL 0.40, ESM-1b 0.70, Uncertain significance, not provided
- S31Y (p.Ser31Tyr), gnomAD rs1270741856, ESM-1b 0.00, AlphaMissense 0.88, Uncertain significance
- S31N (p.Ser31Asn), rs1220969492, gnomAD 5-112707806-G-A, REVEL 0.17, CADD 22.70
- S31R (p.Ser31Arg), rs2149630972, gnomAD 5-112707807-C-A, REVEL 0.18, CADD 22.60
- S31S (p.Ser31Ser), rs1446044641, gnomAD 5-112707813-C-T, CADD 7.29
- N32D (p.Asn32Asp), rs587781972, ClinGen CA016000, ClinVar RCV000130360, ClinVar RCV003460923, REVEL 0.32, ESM-1b 0.00, Uncertain significance
- N32I (p.Asn32Ile), rs539108537, ClinGen CA16021548, ClinVar RCV004563028, 1000Genomes rs539108537, REVEL 0.52, ESM-1b 0.00, Likely benign
- N32K (p.Asn32Lys), Ensembl rs2149738388, ESM-1b 0.00, AlphaMissense 0.38
- N32S (p.Asn32Ser), rs539108537, ClinGen CA051346, cosmic curated COSV57336, ClinVar RCV000202147, REVEL 0.32, ESM-1b 0.00, Likely benign
- N32Y (p.Asn32Tyr), rs587781972, ClinGen CA16021546, ClinVar RCV000562593, ClinVar RCV004569186, REVEL 0.46, ESM-1b 0.00, Uncertain significance
- H33D (p.His33Asp), Ensembl rs2149738398, ESM-1b 0.00, AlphaMissense 0.89
- H33N (p.His33Asn), cosmic curated COSV57336, ESM-1b 0.00, AlphaMissense 0.51
- H33L (p.His33Leu), rs2149738409, ClinGen CA16021556, ClinVar RCV003321023, ESM-1b 0.00, AlphaMissense 0.87, Uncertain significance, not specified
- H33Q (p.His33Gln), Ensembl rs2149738418, ESM-1b 0.00, AlphaMissense 0.77
- H33R (p.His33Arg), Ensembl rs2149738409, REVEL 0.47, ESM-1b 0.00
- H33Y (p.His33Tyr), Ensembl rs2149738398, REVEL 0.40, ESM-1b 0.00
- H33P (p.His33Pro), rs1191401517, gnomAD 5-112707863-A-C, REVEL 0.12, CADD 17.40
- L34F (p.Leu34Phe), cosmic curated COSV57361, Ensembl rs2149738429, ESM-1b 0.00, AlphaMissense 0.98
- L34I (p.Leu34Ile), Ensembl rs2149738429, ESM-1b 0.00, AlphaMissense 0.75
Public APC analysis runs
- APC analysis run — APC (14,982 variants) — completed 2026-05-15