FOXP3 (Forkhead box protein P3) variants and mutations
FOXP3 (also known as Forkhead box protein P3) is a human protein-coding gene encoding a forkhead box protein P3 protein. It establishes the transcriptional program of regulatory T cells and is essential for maintaining peripheral immune tolerance. Loss-of-function variants cause IPEX syndrome with severe early-onset autoimmunity, enteropathy, eczema, and endocrine disease. This analysis covers 610 FOXP3 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, type 1 diabetes mellitus, and hydrops fetalis. Example FOXP3 variants include M1I, M1K, and N3I.
Variant analysis overview
- Gene: FOXP3
- Protein: Forkhead box protein P3
- UniProt accession: Q9BZS1
- Organism: Homo sapiens
- Variants analyzed: 610
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 365 unspecified-consequence records; 9 frameshift variants; 1 stop retained variant; 82 synonymous variants; 132 missense variants; 5 splice-region variants; 6 stop-gained variants; 9 substitution
- Prediction scores: 497 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, type 1 diabetes mellitus, hydrops fetalis, neurodegenerative disease, centronuclear myopathy, neurodevelopmental disorder, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydran, hereditary disease, monogenic diabetes, systemic lupus erythematosus, neoplasm, breast cancer.
Protein structure and variant hotspots
- Protein features: 1 domains; 5 post-translational modification sites.
- Structural context: 84 variants have structural context.
- PTM context: 11 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable FOXP3 variants
Examples include M1I, M1K, N3I, N3K, P4S, R5G, R5M, G7A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs122467174, ClinGen CA255872, ClinVar RCV000012171, MetaLR 0.95, MetaSVM 1.16, Pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- M1K (p.Met1Lys), rs2147949777, ClinGen CA412954403, ClinVar RCV001987185, MetaLR 0.95, MetaSVM 1.09, Pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- N3I (p.Asn3Ile), Ensembl rs2066089534, REVEL 0.65, CADD 23.70, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- N3K (p.Asn3Lys), rs782730117, ExAC rs782730117, TOPMed rs782730117, gnomAD rs782730117, REVEL 0.45, CADD 22.50, Uncertain significance, not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P4S (p.Pro4Ser), TOPMed rs1389154157, REVEL 0.34, CADD 10.30
- R5G (p.Arg5Gly), NCI-TCGA TCGA novel, REVEL 0.63, CADD 24.00, Variant assessed as somatic; high impact.
- R5M (p.Arg5Met), rs2147949758, ClinGen CA412954377, ClinVar RCV001999584, Ensembl rs2147949758, REVEL 0.54, CADD 23.20, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- G7A (p.Gly7Ala), rs2066089464, ClinGen CA412954364, ClinVar RCV002757080, ClinVar RCV005045401, REVEL 0.35, CADD 1.35, Conflicting interpretations, Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- K8R (p.Lys8Arg), TOPMed rs2066089397, gnomAD rs2066089397, REVEL 0.37, CADD 23.00
- S10* (p.Ser10Ter), ExAC rs782104014, TOPMed rs782104014, gnomAD rs782104014, CADD 23.60
- S10L (p.Ser10Leu), ExAC rs782104014, TOPMed rs782104014, gnomAD rs782104014, REVEL 0.25, CADD 0.38
- A15T (p.Ala15Thr), TOPMed rs1557116756, gnomAD rs1557116756, REVEL 0.19, CADD 11.40, Uncertain significance, Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- L16P (p.Leu16Pro), Ensembl rs2066089226
- G17S (p.Gly17Ser), gnomAD rs2066089186, REVEL 0.20, CADD 6.20
- G17V (p.Gly17Val), Ensembl rs868982237, REVEL 0.36, CADD 23.00
- S19P (p.Ser19Pro), Ensembl rs2147949715, REVEL 0.43, CADD 23.60
- P20L (p.Pro20Leu), rs2066089076, ClinGen CA412954285, cosmic curated COSV10531, ClinVar RCV001522523, AlphaMissense 0.07, MetaLR 0.86, Benign, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P20S (p.Pro20Ser), ExAC rs782799706, gnomAD rs782799706
- G21E (p.Gly21Glu), gnomAD rs1557116750, REVEL 0.37, CADD 23.20
- G21R (p.Gly21Arg), rs782138321, ClinGen CA10411866, ClinVar RCV003513191, ExAC rs782138321, REVEL 0.47, CADD 24.90, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A22T (p.Ala22Thr), gnomAD rs1557116748, REVEL 0.34, CADD 8.81
- A22V (p.Ala22Val), 1000Genomes rs782426843, ExAC rs782426843, gnomAD rs782426843, REVEL 0.28, CADD 11.60
- S23L (p.Ser23Leu), ExAC rs782304327, gnomAD rs782304327, REVEL 0.24, CADD 9.43, Uncertain significance, Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- P24S (p.Pro24Ser), rs1557116742, ClinGen CA412954264, cosmic curated COSV66051, ClinVar RCV001703079, REVEL 0.17, CADD 9.52, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R27K (p.Arg27Lys), rs2147949688, ClinGen CA412954240, ClinVar RCV001369407, Ensembl rs2147949688, AlphaMissense 0.07, MetaLR 0.70, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A29T (p.Ala29Thr), Ensembl rs868954801, REVEL 0.21, CADD 1.67
- P30H (p.Pro30His), NCI-TCGA TCGA novel, REVEL 0.36, CADD 19.70, Variant assessed as somatic; moderate impact.
- A32S (p.Ala32Ser), rs2519196906, ClinGen CA412954204, ClinVar RCV003625193, REVEL 0.29, CADD 0.06, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A32V (p.Ala32Val), rs2519196902, ClinGen CA412954198, ClinVar RCV002750516, REVEL 0.30, CADD 14.20, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- D34E (p.Asp34Glu), rs2066088699, ClinGen CA412954171, ClinVar RCV001281015, ClinVar RCV003224546, REVEL 0.19, CADD 1.69, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Diabetes mellit
- L35M (p.Leu35Met), ExAC rs781949384, TOPMed rs781949384, gnomAD rs781949384, REVEL 0.22, CADD 13.90
- G37E (p.Gly37Glu), TOPMed rs1194116356, gnomAD rs1194116356, REVEL 0.48, CADD 17.10
- G37V (p.Gly37Val), TOPMed rs1194116356, gnomAD rs1194116356, REVEL 0.58, CADD 13.40
- A38P (p.Ala38Pro), ExAC rs782239006, TOPMed rs782239006, gnomAD rs782239006, Benign
- A38S (p.Ala38Ser), rs782239006, ClinGen CA10411860, ClinVar RCV001517345, ExAC rs782239006, REVEL 0.20, CADD 0.00, Benign, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A38T (p.Ala38Thr), ExAC rs782239006, TOPMed rs782239006, gnomAD rs782239006, REVEL 0.21, CADD 0.00, Benign
- R39P (p.Arg39Pro), ExAC rs782639786, TOPMed rs782639786, gnomAD rs782639786, REVEL 0.28, CADD 15.00, Benign
- R39Q (p.Arg39Gln), rs782639786, ClinGen CA10411859, ClinVar RCV001515914, ExAC rs782639786, REVEL 0.16, CADD 14.20, Benign, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R39W (p.Arg39Trp), gnomAD rs1557116718, REVEL 0.20, CADD 8.66, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- G40D (p.Gly40Asp), rs781805416, ClinGen CA10411858, ClinVar RCV001266028, ClinVar RCV002542846, REVEL 0.34, CADD 10.20, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- G42R (p.Gly42Arg), rs782178764, ClinGen CA10411857, ClinVar RCV001489813, ClinVar RCV004980551, REVEL 0.47, CADD 21.60, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- T44A (p.Thr44Ala), rs782474624, ClinGen CA10411855, ClinVar RCV001231807, ExAC rs782474624, REVEL 0.22, CADD 0.01, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- T44I (p.Thr44Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T44S (p.Thr44Ser), rs55711326, ClinGen CA10411854, ClinVar RCV003860285, 1000Genomes rs55711326, REVEL 0.21, CADD 0.08, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- F45V (p.Phe45Val), 1000Genomes rs2147949617, REVEL 0.44, CADD 19.30
- Q46R (p.Gln46Arg), rs782639786, Benign
- G47V (p.Gly47Val), rs1432262933, ClinGen CA412954021, ClinVar RCV000699173, TOPMed rs1432262933, REVEL 0.44, CADD 22.60, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R48* (p.Arg48Ter), rs2066088072, ClinGen CA412954016, ClinVar RCV001224826, Ensembl rs2066088072, CADD 35.00, Pathogenic
- R48Q (p.Arg48Gln), ESP rs373567091, ExAC rs373567091, gnomAD rs373567091, REVEL 0.33, CADD 22.60, Likely benign, not specified
- D49Y (p.Asp49Tyr), Ensembl rs782323926
- L50I (p.Leu50Ile), NCI-TCGA TCGA novel, REVEL 0.32, CADD 22.00, Variant assessed as somatic; moderate impact.
- R51* (p.Arg51Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; high impact.
- R51Q (p.Arg51Gln), rs1170772176, ClinGen CA412953978, ClinVar RCV001806840, ClinVar RCV002503296, REVEL 0.31, CADD 16.10, Uncertain significance, not specified; FOXP3-related disorder; Insulin-dependent diabetes mellitus secre
- G52V (p.Gly52Val), rs17847095, ClinGen CA10411852, cosmic curated COSV66050, ClinVar RCV000885000, REVEL 0.22, CADD 14.00, Benign/Likely benign, not specified; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- G53R (p.Gly53Arg), rs587780340, ClinGen CA231122, ClinVar RCV000117095, ClinVar RCV001854567, REVEL 0.37, CADD 20.50, Uncertain significance, not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A56T (p.Ala56Thr), rs2519196732, ClinGen CA412953923, ClinVar RCV003865045, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- S57F (p.Ser57Phe), Ensembl rs879989344
- S58P (p.Ser58Pro), Ensembl rs2066087737
- S58T (p.Ser58Thr), NCI-TCGA TCGA novel, REVEL 0.17, CADD 13.60, Variant assessed as somatic; moderate impact.
- S59C (p.Ser59Cys), rs199917616, ClinGen CA10411848, ClinVar RCV000664161, ClinVar RCV000968776, REVEL 0.53, CADD 23.30, Benign/Likely benign, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Monogenic diabe
- S59Y (p.Ser59Tyr), 1000Genomes rs199917616, ESP rs199917616, ExAC rs199917616, TOPMed rs199917616, Benign
- L61W (p.Leu61Trp), TOPMed rs1366584110
- P63L (p.Pro63Leu), rs1557116691, ClinGen CA412953831, ClinVar RCV002631580, TOPMed rs1557116691, REVEL 0.42, CADD 23.70, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- M64T (p.Met64Thr), NCI-TCGA Cosmic COSV6605, cosmic curated COSV66051, Variant assessed as somatic; moderate impact.
- P65R (p.Pro65Arg), TOPMed rs2066087527, REVEL 0.42, CADD 24.40
- S67L (p.Ser67Leu), rs1382549860, ClinGen CA412953779, ClinVar RCV002074601, TOPMed rs1382549860, REVEL 0.46, CADD 23.50, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- L69P (p.Leu69Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L69V (p.Leu69Val), rs376970698, ClinGen CA10411847, ClinVar RCV003066945, ESP rs376970698, REVEL 0.30, CADD 23.50, Likely benign, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Q70H (p.Gln70His), gnomAD rs1557116687, REVEL 0.66, CADD 33.00
- L71=, rs1557116627, NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; low impact.
- L71V (p.Leu71Val), rs1557116627, ClinGen CA412953701, ClinVar RCV003625181, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P72L (p.Pro72Leu), TOPMed rs2066083894
- T73A (p.Thr73Ala), TOPMed rs1395937139, gnomAD rs1395937139, REVEL 0.30, CADD 17.60, Uncertain significance, not provided
- T73S (p.Thr73Ser), TOPMed rs1395937139, gnomAD rs1395937139, REVEL 0.32, CADD 22.10, Uncertain significance
- P75L (p.Pro75Leu), rs2147949202, ClinGen CA412953650, ClinVar RCV001420358, Ensembl rs2147949202, AlphaMissense 0.73, MetaLR 0.86, Pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P75S (p.Pro75Ser), rs2519195887, ClinGen CA412953655, ClinVar RCV002833718, ClinVar RCV004973662, REVEL 0.49, CADD 24.70, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- L76V (p.Leu76Val), rs781921052, ClinGen CA10411841, ClinVar RCV003090491, ExAC rs781921052, REVEL 0.28, CADD 19.50, Likely benign, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- V77L (p.Val77Leu), rs2519195871, ClinGen CA412953636, ClinVar RCV003511575, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- V77A (p.Val77Ala), rs782426843, []
- V79L (p.Val79Leu), ESP rs138970962, gnomAD rs138970962, REVEL 0.36, CADD 23.80
- A80V (p.Ala80Val), Ensembl rs2066083770, REVEL 0.42, CADD 23.30
- P81L (p.Pro81Leu), gnomAD rs1557116622, REVEL 0.55, CADD 24.80
- P81S (p.Pro81Ser), rs2519195845, ClinGen CA412953588, ClinVar RCV003039637, REVEL 0.44, CADD 20.20, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- S82C (p.Ser82Cys), gnomAD rs1557116620, REVEL 0.33, CADD 24.60, Uncertain significance, Inborn genetic diseases
- G83E (p.Gly83Glu), rs1442990167, ClinGen CA412953554, ClinVar RCV003831536, TOPMed rs1442990167, REVEL 0.39, CADD 21.10, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- G83R (p.Gly83Arg), rs868911396, ClinGen CA412953562, ClinVar RCV001879506, TOPMed rs868911396, REVEL 0.22, CADD 17.50, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- G83W (p.Gly83Trp), TOPMed rs868911396, gnomAD rs868911396, REVEL 0.38, CADD 23.50, Uncertain significance
- R85L (p.Arg85Leu), NCI-TCGA TCGA novel, REVEL 0.30, CADD 22.20, Variant assessed as somatic; moderate impact.
- R85Q (p.Arg85Gln), rs782628979, ClinGen CA10411837, ClinVar RCV001371485, ExAC rs782628979, REVEL 0.20, CADD 18.20, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R85W (p.Arg85Trp), rs376715533, ClinGen CA10411838, cosmic curated COSV10087, ClinVar RCV001316091, REVEL 0.36, CADD 24.50, Conflicting interpretations, not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- G87S (p.Gly87Ser), gnomAD rs1557116608
- L89F (p.Leu89Phe), Ensembl rs868979139, REVEL 0.32, CADD 4.21
- H91N (p.His91Asn), Ensembl rs2147949127
- H91P (p.His91Pro), TOPMed rs1304549886, REVEL 0.64, CADD 25.50, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Q93* (p.Gln93Ter), gnomAD rs1557116602, CADD 36.00
- Q93L (p.Gln93Leu), Ensembl rs2066083202
- D98G (p.Asp98Gly), TOPMed rs2066083142
- D98N (p.Asp98Asn), rs2147949106, ClinGen CA412953377, ClinVar RCV002015623, Ensembl rs2147949106, REVEL 0.29, CADD 22.80, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R99S (p.Arg99Ser), rs910806219, ClinGen CA329136900, ClinVar RCV004394419, ClinVar RCV005040636, REVEL 0.43, CADD 17.70, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- H101R (p.His101Arg), rs1557116600, ClinGen CA412953334, ClinVar RCV003268022, ClinVar RCV006561319, REVEL 0.38, CADD 22.60, Uncertain significance, Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- M103R (p.Met103Arg), gnomAD rs1557116598, REVEL 0.57, CADD 23.00
- M103V (p.Met103Val), gnomAD rs1557116599, REVEL 0.26, CADD 6.76
- L106=, NCI-TCGA Cosmic COSV6605, Variant assessed as somatic; low impact.
- S107* (p.Ser107Ter), gnomAD rs1557116572
- T108M (p.Thr108Met), rs782572328, ClinGen CA10411824, NCI-TCGA Cosmic COSV6605, cosmic curated COSV66050, REVEL 0.54, CADD 19.60, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; not specified
- T108R (p.Thr108Arg), NCI-TCGA Cosmic COSV6605, cosmic curated COSV66051, Variant assessed as somatic; moderate impact.
- D110Y (p.Asp110Tyr), Ensembl rs2147948987
- A111D (p.Ala111Asp), ExAC rs782124230, gnomAD rs782124230, REVEL 0.34, CADD 23.20
- A111T (p.Ala111Thr), rs1424687079, ClinGen CA412953205, ClinVar RCV002023375, TOPMed rs1424687079, REVEL 0.16, CADD 7.30, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- H112L (p.His112Leu), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- H112Q (p.His112Gln), ESP rs143632471, ExAC rs143632471, TOPMed rs143632471, gnomAD rs143632471, REVEL 0.41, CADD 10.20, Benign
- A113S (p.Ala113Ser), rs1398753395, ClinGen CA412953176, ClinVar RCV000797311, ClinVar RCV005841633, REVEL 0.21, CADD 4.82, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- A113T (p.Ala113Thr), rs1398753395, ClinGen CA412953178, NCI-TCGA Cosmic COSV6605, cosmic curated COSV66051, REVEL 0.27, CADD 8.68, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R114Q (p.Arg114Gln), rs782303740, ClinGen CA10411818, NCI-TCGA Cosmic COSV6605, cosmic curated COSV66051, REVEL 0.19, CADD 19.10, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R114W (p.Arg114Trp), rs200554980, ClinGen CA10411819, ClinVar RCV000501041, ClinVar RCV000970540, REVEL 0.52, CADD 26.90, Conflicting interpretations, not provided; not specified; Insulin-dependent diabetes mellitus secretory diarr
- L118V (p.Leu118Val), rs1373580534, ClinGen CA412953123, ClinVar RCV002173417, ClinVar RCV005834199, REVEL 0.29, CADD 19.80, Conflicting interpretations, Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- H121P (p.His121Pro), Ensembl rs2066081713
- H121Q (p.His121Gln), ExAC rs56409830, gnomAD rs56409830, REVEL 0.19, CADD 16.80
- H121Y (p.His121Tyr), rs782640594, ClinGen CA10411817, ClinVar RCV000908445, 1000Genomes rs782640594, REVEL 0.36, CADD 22.60, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- S125N (p.Ser125Asn), rs2066081601, ClinGen CA412953034, ClinVar RCV002922247, Ensembl rs2066081601, AlphaMissense 0.10, MetaLR 0.74, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P126T (p.Pro126Thr), ExAC rs782202711, TOPMed rs782202711, gnomAD rs782202711, REVEL 0.59, CADD 22.90, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A127V (p.Ala127Val), NCI-TCGA Cosmic COSV6605, REVEL 0.58, CADD 23.40, Variant assessed as somatic; moderate impact.
- M128V (p.Met128Val), gnomAD rs2066081530, REVEL 0.30, CADD 18.60
- S130G (p.Ser130Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L131R (p.Leu131Arg), ExAC rs782604073, gnomAD rs782604073, REVEL 0.66, CADD 23.10
- T132I (p.Thr132Ile), gnomAD rs1557116550, REVEL 0.36, CADD 20.70, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P133L (p.Pro133Leu), rs782511378, ClinGen CA10411813, ClinVar RCV000258798, ClinVar RCV004767206, REVEL 0.54, CADD 22.80, Likely pathogenic
- P133S (p.Pro133Ser), Ensembl rs1002017383, REVEL 0.40, CADD 14.60
- P134T (p.Pro134Thr), TOPMed rs1215832691, gnomAD rs1215832691, REVEL 0.49, CADD 22.20
- T135N (p.Thr135Asn), cosmic curated COSV66050, Ensembl rs1602686569, REVEL 0.25, CADD 14.10, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- T135P (p.Thr135Pro), ExAC rs782665522, gnomAD rs782665522, REVEL 0.44, CADD 3.40
- T136I (p.Thr136Ile), rs1255528846, ClinGen CA412952896, ClinVar RCV003625628, ClinVar RCV004371766, REVEL 0.28, CADD 9.08, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- T136P (p.Thr136Pro), ExAC rs782550900, gnomAD rs782550900, REVEL 0.28, CADD 4.94
- A137T (p.Ala137Thr), rs1057524899, ClinGen CA16609262, cosmic curated COSV10971, ClinVar RCV000445467, REVEL 0.26, CADD 0.25, Uncertain significance, Monogenic diabetes; Insulin-dependent diabetes mellitus secretory diarrhea syndr
- T138I (p.Thr138Ile), cosmic curated COSV66051, TOPMed rs1274949988, gnomAD rs1274949988, REVEL 0.54, CADD 20.50
- V140D (p.Val140Asp), TOPMed rs2066080999
- V140I (p.Val140Ile), gnomAD rs1557116533, REVEL 0.11, AlphaMissense 0.07
- V140L (p.Val140Leu), rs1557116533, ClinGen CA412952854, ClinVar RCV003625879, ClinVar RCV004765945, AlphaMissense 0.07, MetaLR 0.77, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; not provided
- K144E (p.Lys144Glu), rs1557116530, ClinGen CA412952804, ClinVar RCV000596436, ClinVar RCV002491227, REVEL 0.57, CADD 25.20, Uncertain significance, not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A145D (p.Ala145Asp), 1000Genomes rs782528935, ExAC rs782528935, REVEL 0.51, CADD 25.30, Likely pathogenic
- A145V (p.Ala145Val), rs782528935, ClinGen CA277185, ClinVar RCV000193687, 1000Genomes rs782528935, REVEL 0.29, CADD 28.90, Likely pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R146Q (p.Arg146Gln), rs1557116525, ClinGen CA412952771, NCI-TCGA Cosmic COSV6605, cosmic curated COSV66051, REVEL 0.34, CADD 24.20, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- R146W (p.Arg146Trp), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, REVEL 0.68, CADD 27.40, Variant assessed as somatic; moderate impact.
- P147A (p.Pro147Ala), rs781856708, ClinGen CA10411806, ClinVar RCV000594280, ClinVar RCV002491183, REVEL 0.45, CADD 23.50, Uncertain significance, not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P147S (p.Pro147Ser), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- G148C (p.Gly148Cys), NCI-TCGA Cosmic COSV6605, cosmic curated COSV66050, REVEL 0.57, CADD 24.50, Variant assessed as somatic; moderate impact.
- G148D (p.Gly148Asp), ExAC rs782776637, gnomAD rs782776637, REVEL 0.46, CADD 24.50
- G148V (p.Gly148Val), ExAC rs782776637, gnomAD rs782776637, REVEL 0.62, CADD 24.60, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P151A (p.Pro151Ala), TOPMed rs1557116520, gnomAD rs1557116520, Uncertain significance
- P151S (p.Pro151Ser), rs1557116520, ClinGen CA412952722, ClinVar RCV001217233, TOPMed rs1557116520, REVEL 0.39, CADD 23.20, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- G152E (p.Gly152Glu), ESP rs138019743, ExAC rs138019743, TOPMed rs138019743, gnomAD rs138019743, REVEL 0.45, CADD 24.60
- I153L (p.Ile153Leu), TOPMed rs2066078255
- V155M (p.Val155Met), ExAC rs782536284, gnomAD rs782536284, REVEL 0.19, CADD 8.94
- L158Q (p.Leu158Gln), rs1557116475, ClinGen CA412952583, ClinVar RCV002640248, TOPMed rs1557116475, REVEL 0.60, CADD 24.00, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- V161A (p.Val161Ala), rs1243920194, ClinGen CA412952541, ClinVar RCV002596127, AlphaMissense 0.37, MetaLR 0.87, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- V161G (p.Val161Gly), TOPMed rs1243920194, gnomAD rs1243920194, REVEL 0.52, AlphaMissense 0.37, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- E164D (p.Glu164Asp), rs2147948631, ClinGen CA412952500, ClinVar RCV001903106, Ensembl rs2147948631, AlphaMissense 0.24, MetaLR 0.88, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- E164K (p.Glu164Lys), cosmic curated COSV10531, NCI-TCGA TCGA novel, REVEL 0.56, CADD 23.60, Variant assessed as somatic; moderate impact.
- P165L (p.Pro165Leu), rs1279942582, ClinGen CA412952487, ClinVar RCV001903367, TOPMed rs1279942582, REVEL 0.49, CADD 23.50, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- L167M (p.Leu167Met), rs2519194338, ClinGen CA412952473, ClinVar RCV003047816, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- L168F (p.Leu168Phe), TOPMed rs2066077912, REVEL 0.44, CADD 23.10
- C169R (p.Cys169Arg), rs1237648287, ClinGen CA412952450, ClinVar RCV001996555, TOPMed rs1237648287, REVEL 0.72, CADD 24.20, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- C169Y (p.Cys169Tyr), rs1284218417, ClinGen CA412952446, ClinVar RCV001049743, TOPMed rs1284218417, REVEL 0.56, CADD 23.00, Likely benign, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- T170A (p.Thr170Ala), rs782694663, ClinGen CA10411788, ClinVar RCV001316532, ClinVar RCV006376953, REVEL 0.34, CADD 14.00, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- F171S (p.Phe171Ser), TOPMed rs2066077767
- P172R (p.Pro172Arg), gnomAD rs1557116461, REVEL 0.57, CADD 23.90
- P174R (p.Pro174Arg), rs370358803, ClinGen CA10411787, ClinVar RCV003098957, ClinVar RCV004750266, REVEL 0.38, CADD 21.10, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- S175N (p.Ser175Asn), rs1258307921, ClinGen CA412952396, ClinVar RCV003823278, ClinVar RCV005567665, REVEL 0.12, CADD 5.79, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- S175R (p.Ser175Arg), TOPMed rs1441216420, gnomAD rs1441216420, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- A176T (p.Ala176Thr), TOPMed rs1187522743, REVEL 0.18, CADD 3.07
- R178K (p.Arg178Lys), NCI-TCGA Cosmic COSV6605, cosmic curated COSV66052, TOPMed rs2066077539, gnomAD rs2066077539, REVEL 0.26, CADD 16.40, Variant assessed as somatic; moderate impact.
- S181I (p.Ser181Ile), rs1602686006, ClinGen CA412952332, ClinVar RCV000805851, Ensembl rs1602686006, AlphaMissense 0.19, PolyPhen-2 1.00, Uncertain significance, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- L183I (p.Leu183Ile), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10087, Variant assessed as somatic; moderate impact.
- S184* (p.Ser184Ter), NCI-TCGA Cosmic COSV6605, Variant assessed as somatic; high impact.
- S184L (p.Ser184Leu), rs140222626, ClinGen CA10411779, NCI-TCGA Cosmic COSV6605, cosmic curated COSV66051, REVEL 0.16, CADD 13.40, Conflicting interpretations, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- P187L (p.Pro187Leu), TOPMed rs2066076666, gnomAD rs2066076666, REVEL 0.63, CADD 22.20
- Q188H (p.Gln188His), ExAC rs781965586, TOPMed rs781965586, gnomAD rs781965586, REVEL 0.26, CADD 22.30
- P192L (p.Pro192Leu), rs200396601, ClinGen CA329136603, ClinVar RCV003143392, ClinVar RCV004246146, REVEL 0.52, CADD 23.00, Uncertain significance, Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- N196H (p.Asn196His), TOPMed rs1394920529, gnomAD rs1394920529, REVEL 0.31, CADD 21.90
- G197S (p.Gly197Ser), Ensembl rs2147948527
Public FOXP3 analysis runs
- FOXP3 analysis run — FOXP3 (610 variants) — completed 2026-08-18