CFTR (P13569) variants and mutations
CFTR (also known as P13569) is a human protein-coding gene encoding a cystic fibrosis transmembrane conductance regulator protein. An epithelial chloride channel and regulator of salt and water movement across cell surfaces. Its activity helps keep airway, intestinal, and other epithelial fluids balanced, while CFTR disruption causes cystic fibrosis and related disorders. This analysis covers 3,261 CFTR variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes cystic fibrosis, congenital bilateral aplasia of vas deferens from CFTR mutation, and hereditary chronic pancreatitis. Example CFTR variants include M1I, M1K, and M1R.
Variant analysis overview
- Gene: CFTR
- Protein: P13569
- UniProt accession: P13569
- Organism: Homo sapiens
- Variants analyzed: 3261
- Variant scope: all variants
- Completed: 2026-05-30
Variant and mutation evidence
- Variant composition: 3,095 unspecified-consequence records; 70 synonymous variants; 67 missense variants; 21 frameshift variants; 2 splice-region variants; 2 stop-gained variants; 1 in-frame insertions; 3 substitution
- Prediction scores: 3,145 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: cystic fibrosis, congenital bilateral aplasia of vas deferens from CFTR mutation, hereditary chronic pancreatitis, bronchiectasis with or without elevated sweat chloride 1, congenital bilateral absence of vas deferens, bronchiectasis, chronic pancreatitis, Diarrhea, Obstructive azoospermia, acute lung injury, cholestasis, familial atypical multiple mole melanoma syndrome.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 4 domains; 6 binding sites; 17 post-translational modification sites.
- Structural context: 2,330 variants have structural context.
- PTM context: 32 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, PharmGKB, MaveDB, LitVar.
Notable CFTR variants
Examples include M1I, M1K, M1R, M1T, M1V, Q2*, Q2P, Q2Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs397508657, ClinGen CA327373, ClinVar RCV000757844, ClinGen CA327375, ESM-1b 0.68, AlphaMissense 0.68, not provided, Cystic fibrosis
- M1K (p.Met1Lys), rs397508476, ClinGen CA327003, ClinVar RCV000577491, ESM-1b 0.00, AlphaMissense 0.75, Pathogenic, Cystic fibrosis
- M1R (p.Met1Arg), rs397508476, ClinGen CA368981126, ClinVar RCV000757833, ESM-1b 0.36, AlphaMissense 0.66, Pathogenic/Likely pathogenic, CFTR-related disorder; Cystic fibrosis
- M1T (p.Met1Thr), rs397508476, ClinGen CA327005, ClinVar RCV000046751, ClinVar RCV001826652, ESM-1b 0.60, AlphaMissense 0.80, Pathogenic, CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe
- M1V (p.Met1Val), rs397508328, ClinGen CA345308, ClinVar RCV000056356, ClinVar RCV000755921, ESM-1b 0.49, AlphaMissense 0.18, Pathogenic, Cystic fibrosis
- Q2* (p.Gln2Ter), rs397508740, ClinGen CA327541, ClinVar RCV000576848, ClinVar RCV001775206, CADD 38.00, Pathogenic
- Q2P (p.Gln2Pro), rs1797976959, ClinGen CA368981135, ClinVar RCV001269232, ClinVar RCV001830073, REVEL 0.71, ESM-1b 0.00, Uncertain significance, Cystic fibrosis; not specified
- Q2Q (p.Gln2Gln), gnomAD 7-117480100-G-A, CADD 14.10
- R3M (p.Arg3Met), rs1052894635, ClinGen CA164948889, ClinVar RCV001158546, ClinVar RCV002375044, REVEL 0.47, ESM-1b 0.00, Uncertain significance, CFTR-related disorder; Cystic fibrosis
- R3W (p.Arg3Trp), rs2116604544, ClinVar RCV001775206, ClinVar RCV004699474, ClinVar RCV005237989, REVEL 0.79, ESM-1b 0.56, Uncertain significance, Cystic fibrosis
- S4* (p.Ser4Ter), rs397508173, ClinGen CA326431, ClinVar RCV000046255, ClinVar RCV000780154, CADD 39.00, Pathogenic
- S4A (p.Ser4Ala), ExAC rs775329266, TOPMed rs775329266, gnomAD rs775329266, ESM-1b 0.00, AlphaMissense 0.31
- S4L (p.Ser4Leu), rs397508173, ClinGen CA4450596, ClinVar RCV003165236, ExAC rs397508173, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- S4P (p.Ser4Pro), ExAC rs775329266, TOPMed rs775329266, gnomAD rs775329266, REVEL 0.62, ESM-1b 0.06
- S4S (p.Ser4Ser), rs1158877973, gnomAD 7-117480106-G-T, CADD 14.80
- P5L (p.Pro5Leu), rs193922501, ClinGen CA325691, ClinVar RCV000029477, ClinVar RCV000727666, REVEL 0.89, ESM-1b 0.92, Pathogenic
- P5R (p.Pro5Arg), rs193922501, ClinGen CA368981180, ClinVar RCV003617678, ClinVar RCV005934716, REVEL 0.81, ESM-1b 1.00, Conflicting interpretations, Cystic fibrosis; not specified
- P5S (p.Pro5Ser), rs2484928867, ClinGen CA368981177, ClinVar RCV003619059, ESM-1b 0.36, AlphaMissense 0.59, Conflicting interpretations, Cystic fibrosis; not specified
- P5P (p.Pro5Pro), rs751475070, gnomAD 7-117480109-T-C, CADD 14.60
- L6R (p.Leu6Arg), gnomAD rs1327925872, REVEL 0.42, ESM-1b 0.00
- L6V (p.Leu6Val), rs1554373095, ClinGen CA368981186, ClinVar RCV000674389, Ensembl rs1554373095, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Cystic fibrosis
- E7* (p.Glu7Ter), rs121909045, ClinGen CA325613, ClinVar RCV000007657, ClinVar RCV000278439, AlphaMissense 0.26, MetaLR 0.55, Pathogenic
- E7Q (p.Glu7Gln), ExAC rs121909045, TOPMed rs121909045, gnomAD rs121909045, REVEL 0.31, ESM-1b 0.00, Pathogenic
- K8R (p.Lys8Arg), rs1204115625, ClinGen CA368981215, ClinVar RCV001158547, TOPMed rs1204115625, REVEL 0.13, ESM-1b 0.00, Uncertain significance, CFTR-related disorder
- K8K (p.Lys8Lys), rs1800071, gnomAD 7-117480118-G-A, CADD 13.10
- A9T (p.Ala9Thr), Ensembl rs1797977570, REVEL 0.85, ESM-1b 0.13
- A9V (p.Ala9Val), rs949472192, ClinGen CA164948916, ClinVar RCV000755917, ClinVar RCV001825489, REVEL 0.88, ESM-1b 0.30, Conflicting interpretations, Cystic fibrosis; not provided
- A9A (p.Ala9Ala), rs1255831708, gnomAD 7-117480121-C-T, CADD 17.90
- S10N (p.Ser10Asn), rs762241850, ClinGen CA164948918, ClinVar RCV000507945, ClinVar RCV000696094, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Cystic fibrosis; not specified; not provided
- S10R (p.Ser10Arg), gnomAD rs1369001389, REVEL 0.69, ESM-1b 1.00, Uncertain significance, not provided
- S10T (p.Ser10Thr), rs762241850, ClinGen CA368981240, ClinVar RCV001938732, TOPMed rs762241850, REVEL 0.34, ESM-1b 0.11, Uncertain significance, Cystic fibrosis
- S10S (p.Ser10Ser), rs1369001389, gnomAD 7-117480124-C-T, CADD 16.10
- V11A (p.Val11Ala), ExAC rs780188806, gnomAD rs780188806, ESM-1b 0.00, AlphaMissense 0.10
- V11I (p.Val11Ile), rs1800072, ClinGen CA4450601, ClinVar RCV000630460, ClinVar RCV001002302, REVEL 0.45, ESM-1b 0.00, Uncertain significance, Bronchiectasis with or without elevated sweat chloride 1; Congenital bilateral a
- V11L (p.Val11Leu), ESP rs1800072, ExAC rs1800072, TOPMed rs1800072, gnomAD rs1800072, REVEL 0.23, ESM-1b 0.00, Uncertain significance
- V12A (p.Val12Ala), ExAC rs754221223, gnomAD rs754221223, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- V12G (p.Val12Gly), gnomAD 7-117480129-T-G, REVEL 0.69, ESM-1b 0.20
- S13A (p.Ser13Ala), TOPMed rs905181880, ESM-1b 0.82, AlphaMissense 0.20
- S13C (p.Ser13Cys), gnomAD rs397508635, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Cystic fibrosis
- S13F (p.Ser13Phe), rs397508635, ClinGen CA327334, ClinVar RCV000577001, ClinVar RCV000759040, ESM-1b 1.00, AlphaMissense 0.76, Pathogenic, Cystic fibrosis
- S13Y (p.Ser13Tyr), gnomAD rs397508635, REVEL 0.91, ESM-1b 1.00, Uncertain significance, not specified
- S13S (p.Ser13Ser), gnomAD 7-117480133-C-T, CADD 17.10
- K14* (p.Lys14Ter), rs397508673, ClinGen CA327398, ClinVar RCV001009425, ClinVar RCV003466913, AlphaMissense 0.25, MetaLR 0.55, Pathogenic
- K14E (p.Lys14Glu), rs397508673, ClinGen CA368981296, ClinVar RCV000586965, ClinVar RCV001002549, REVEL 0.41, ESM-1b 1.00, Uncertain significance, not specified; not provided; Cystic fibrosis
- K14I (p.Lys14Ile), rs772774651, ClinGen CA164948959, ClinVar RCV000588867, ClinVar RCV000819753, REVEL 0.56, ESM-1b 0.35, Uncertain significance, Bronchiectasis with or without elevated sweat chloride 1; Congenital bilateral a
- K14Q (p.Lys14Gln), rs397508673, ClinGen CA368981294, ClinVar RCV002295928, ESM-1b 0.00, AlphaMissense 0.25, Uncertain significance, Cystic fibrosis
- K14R (p.Lys14Arg), rs772774651, ClinGen CA368981305, ClinVar RCV003144832, TOPMed rs772774651, REVEL 0.16, ESM-1b 0.00, Uncertain significance, not provided
- K14F (p.Lys14Phe), gnomAD 7-117480133-CAAAC, CADD 32.00
- L15F (p.Leu15Phe), ExAC rs755405810, ESM-1b 0.03, AlphaMissense 0.11
- L15H (p.Leu15His), rs1562876459, ClinGen CA368981335, ClinVar RCV002290339, ClinVar RCV003507405, ESM-1b 1.00, AlphaMissense 0.76, Conflicting interpretations, Congenital bilateral aplasia of vas deferens from CFTR mutation; Cystic fibrosis
- L15P (p.Leu15Pro), rs1562876459, ClinGen CA368981338, ClinVar RCV000785636, ClinVar RCV001000710, ESM-1b 1.00, AlphaMissense 0.76, Pathogenic, Cystic fibrosis
- L15V (p.Leu15Val), ExAC rs755405810, REVEL 0.34, ESM-1b 0.00
- L15L (p.Leu15Leu), rs1212474322, gnomAD 7-117480139-T-G, CADD 14.70
- F16S (p.Phe16Ser), gnomAD 7-117480141-T-C, REVEL 0.63, ESM-1b 1.00
- F17=, NCI-TCGA Cosmic COSV5004, Variant assessed as somatic; low impact.
- F17L (p.Phe17Leu), TOPMed rs1797978780, REVEL 0.80, ESM-1b 0.01, Uncertain significance, Cystic fibrosis
- F17Q (p.Phe17Gln), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.94, Variant assessed as somatic; high impact.
- F17V (p.Phe17Val), ExAC rs779256353, TOPMed rs779256353, gnomAD rs779256353, REVEL 0.88, ESM-1b 1.00, Uncertain significance, Cystic fibrosis
- F17S (p.Phe17Ser), rs397508714, gnomAD 7-117480137-CT-C, CADD 32.00
- S18G (p.Ser18Gly), rs748599579, ClinGen CA4450606, ClinVar RCV003317766, ClinVar RCV003618068, REVEL 0.58, ESM-1b 0.00, Uncertain significance, not specified; Cystic fibrosis
- S18I (p.Ser18Ile), rs1584764661, ClinGen CA368981413, ClinVar RCV002347264, Ensembl rs1584764661, ESM-1b 0.00, AlphaMissense 0.23, Uncertain significance, Cystic fibrosis
- S18Q (p.Ser18Gln), rs397508714, gnomAD 7-117480137-C-CT, CADD 33.00
- S18R (p.Ser18Arg), gnomAD 7-117480146-A-C, REVEL 0.53, ESM-1b 0.00
- W19* (p.Trp19Ter), rs397508762, ClinGen CA368986807, ClinVar RCV000576462, ClinVar RCV001283974, CADD 33.00, Pathogenic
- W19C (p.Trp19Cys), rs397508762, ClinGen CA327582, ClinVar RCV000577168, Ensembl rs397508762, REVEL 0.97, ESM-1b 1.00, Likely pathogenic, Cystic fibrosis
- W19L (p.Trp19Leu), NCI-TCGA TCGA novel, REVEL 0.94, ESM-1b 1.00, Variant assessed as somatic; high impact.
- T20A (p.Thr20Ala), TOPMed rs1395987138, gnomAD rs1395987138, REVEL 0.47, ESM-1b 0.00
- T20S (p.Thr20Ser), gnomAD rs1408253313, REVEL 0.42, ESM-1b 0.00
- T20N (p.Thr20Asn), gnomAD 7-117504258-C-A, REVEL 0.43, ESM-1b 1.00
- T20I (p.Thr20Ile), gnomAD 7-117504258-C-T, REVEL 0.42, ESM-1b 0.00
- T20T (p.Thr20Thr), rs534609552, gnomAD 7-117504259-C-T, CADD 9.40
- R21I (p.Arg21Ile), rs777520137, ClinGen CA4450629, ClinVar RCV001044682, ExAC rs777520137, REVEL 0.37, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- P22R (p.Pro22Arg), NCI-TCGA TCGA novel, REVEL 0.83, ESM-1b 0.61, Variant assessed as somatic; moderate impact.
- P22T (p.Pro22Thr), gnomAD 7-117504263-C-A, REVEL 0.88, ESM-1b 0.53
- P22S (p.Pro22Ser), gnomAD 7-117504263-C-T, REVEL 0.77, ESM-1b 0.00
- P22L (p.Pro22Leu), gnomAD 7-117504264-C-T, REVEL 0.91, ESM-1b 1.00
- P22Q (p.Pro22Gln), gnomAD 7-117504264-C-A, REVEL 0.85, ESM-1b 0.80
- P22P (p.Pro22Pro), rs748899228, gnomAD 7-117504265-A-G, CADD 12.20
- I23T (p.Ile23Thr), rs2484968064, ClinGen CA368986883, ClinVar RCV002378061, ClinVar RCV005239395, ESM-1b 0.39, AlphaMissense 0.78, Uncertain significance, Cystic fibrosis; not specified
- I23V (p.Ile23Val), rs1798377413, ClinGen CA368986878, ClinVar RCV001278576, Ensembl rs1798377413, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Cystic fibrosis
- L24* (p.Leu24Ter), rs2484968079, ClinGen CA368986891, ClinVar RCV002284583, Likely pathogenic
- L24F (p.Leu24Phe), Ensembl rs55773134, ESM-1b 0.00, AlphaMissense 0.42, Likely benign
- L24V (p.Leu24Val), rs1056986309, ClinGen CA164963557, ClinVar RCV001240548, ClinVar RCV001828955, REVEL 0.75, ESM-1b 0.63, Uncertain significance, Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Conge
- L24W (p.Leu24Trp), gnomAD 7-117504270-T-G, REVEL 0.92, ESM-1b 1.00
- L24L (p.Leu24Leu), rs55773134, gnomAD 7-117504271-G-A, CADD 10.90
- R25K (p.Arg25Lys), gnomAD rs1309801039, REVEL 0.24, ESM-1b 0.00
- R25G (p.Arg25Gly), gnomAD 7-117504272-A-G, REVEL 0.46, ESM-1b 0.07
- R25R (p.Arg25Arg), gnomAD 7-117504274-G-A, CADD 7.23
- K26E (p.Lys26Glu), rs759726535, ClinGen CA4450631, ClinVar RCV000698034, ClinVar RCV001527046, REVEL 0.73, ESM-1b 0.00, Uncertain significance, CFTR-related disorder; not specified; Cystic fibrosis
- K26I (p.Lys26Ile), gnomAD rs1798377816, REVEL 0.74, ESM-1b 0.00
- K26N (p.Lys26Asn), TOPMed rs1379722065, gnomAD rs1379722065, REVEL 0.59, ESM-1b 0.37
- K26T (p.Lys26Thr), gnomAD 7-117504276-A-C, REVEL 0.69, ESM-1b 0.00
- G27* (p.Gly27Ter), rs397508796, ClinGen CA327656, ClinVar RCV000047257, ClinVar RCV001831803, CADD 36.00, Pathogenic
- G27E (p.Gly27Glu), rs397508797, ClinGen CA327658, ClinVar RCV000577538, ClinVar RCV004566888, ESM-1b 1.00, AlphaMissense 0.92, Likely pathogenic, Bronchiectasis with or without elevated sweat chloride 1
- G27R (p.Gly27Arg), rs397508796, ExAC rs397508796, TOPMed rs397508796, gnomAD rs397508796, REVEL 0.96, ESM-1b 1.00, Pathogenic, Cystic fibrosis
- G27V (p.Gly27Val), rs397508797, ClinGen CA368986987, ClinVar RCV000589825, Ensembl rs397508797, ESM-1b 1.00, AlphaMissense 0.92, Uncertain significance, not provided
- G27D (p.Gly27Asp), rs397508798, gnomAD 7-117504277-AG-A, CADD 30.00
- Y28H (p.Tyr28His), TOPMed rs1012752433, gnomAD rs1012752433, REVEL 0.68, ESM-1b 0.00
- Y28C (p.Tyr28Cys), gnomAD 7-117504282-A-G, REVEL 0.75, ESM-1b 0.00
- Y28Y (p.Tyr28Tyr), rs1212639681, gnomAD 7-117504283-C-T, CADD 5.57
- R29G (p.Arg29Gly), rs2484968159, ClinGen CA368987006, ClinVar RCV002447975, NCI-TCGA TCGA novel, REVEL 0.74, ESM-1b 0.62, Uncertain significance, Cystic fibrosis
- R29T (p.Arg29Thr), ExAC rs748005919, gnomAD rs748005919, REVEL 0.47, ESM-1b 0.00
- R29R (p.Arg29Arg), gnomAD 7-117504286-A-G, CADD 12.60
- Q30* (p.Gln30Ter), rs397508815, ClinGen CA327685, ClinVar RCV000577040, ClinVar RCV001826701, Pathogenic
- Q30P (p.Gln30Pro), rs2484968181, ClinGen CA368987036, ClinVar RCV002449947, ESM-1b 1.00, AlphaMissense 0.41, Uncertain significance, Cystic fibrosis
- Q30Q (p.Gln30Gln), gnomAD 7-117504289-G-A, CADD 6.68
- R31C (p.Arg31Cys), rs1800073, ClinGen CA325716, ClinVar RCV000029548, ClinVar RCV000251973, REVEL 0.67, ESM-1b 0.51, Likely benign
- R31H (p.Arg31His), rs149353983, ClinGen CA4450633, ClinVar RCV000670527, ClinVar RCV001580534, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not specified; not provided; Cystic fibrosis
- R31L (p.Arg31Leu), rs149353983, ClinGen CA327694, ClinVar RCV000577473, ClinVar RCV000581319, REVEL 0.55, ESM-1b 0.19, Uncertain significance, Cystic fibrosis
- R31S (p.Arg31Ser), 1000Genomes rs1800073, ESP rs1800073, ExAC rs1800073, TOPMed rs1800073, REVEL 0.34, ESM-1b 0.00, Likely benign, in CF
- R31R (p.Arg31Arg), rs766315026, gnomAD 7-117504292-C-A, CADD 10.50
- L32M (p.Leu32Met), rs776797377, ClinGen CA4450635, ClinVar RCV000598321, ClinVar RCV000670047, REVEL 0.71, ESM-1b 1.00, Conflicting interpretations, not provided; Cystic fibrosis
- L32P (p.Leu32Pro), gnomAD rs397508821, REVEL 0.95, ESM-1b 1.00
- E33* (p.Glu33Ter), rs1798379068, ClinGen CA368987092, ClinVar RCV002284553, AlphaMissense 0.10, MetaLR 0.83, Likely pathogenic
- E33Q (p.Glu33Gln), gnomAD rs1798379068, REVEL 0.49, ESM-1b 0.00
- S35L (p.Ser35Leu), rs1372627069, ClinGen CA368987151, ClinVar RCV001984216, gnomAD rs1372627069, REVEL 0.66, ESM-1b 0.54, Uncertain significance, not specified; Cystic fibrosis
- D36A (p.Asp36Ala), rs2484968246, ClinGen CA368987168, ClinVar RCV003314293, ESM-1b 1.00, AlphaMissense 0.69, Uncertain significance, Congenital bilateral aplasia of vas deferens from CFTR mutation
- I37L (p.Ile37Leu), rs759721412, ClinGen CA368987185, ClinVar RCV003187774, ClinGen CA164963639, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- I37M (p.Ile37Met), NCI-TCGA Cosmic COSV5006, REVEL 0.66, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- I37T (p.Ile37Thr), rs2484968262, ClinGen CA368987191, ClinVar RCV002437373, REVEL 0.80, ESM-1b 0.31, Uncertain significance, Cystic fibrosis
- I37V (p.Ile37Val), rs759721412, ClinGen CA4450636, ClinVar RCV000732401, ClinVar RCV001855683, REVEL 0.34, ESM-1b 0.00, Uncertain significance, not provided; Cystic fibrosis
- Y38* (p.Tyr38Ter), rs193922498, ClinGen CA260211, ClinVar RCV000029470, Ensembl rs193922498, Pathogenic
- Y38C (p.Tyr38Cys), rs758826243, ClinGen CA4450639, ClinVar RCV002451754, ExAC rs758826243, REVEL 0.86, ESM-1b 0.51, Uncertain significance, Cystic fibrosis
- Y38H (p.Tyr38His), rs373112861, ClinGen CA4450637, ClinVar RCV002320681, ClinVar RCV003120893, REVEL 0.83, ESM-1b 0.25, Uncertain significance, Cystic fibrosis; not specified
- Y38N (p.Tyr38Asn), ESP rs373112861, ExAC rs373112861, TOPMed rs373112861, gnomAD rs373112861, REVEL 0.87, ESM-1b 0.92, Uncertain significance
- Y38Y (p.Tyr38Tyr), gnomAD 7-117504313-C-T, CADD 7.33
- Q39* (p.Gln39Ter), rs397508168, ClinGen CA345303, ClinVar RCV000056342, ClinVar RCV000781224, CADD 36.00, Pathogenic
- Q39H (p.Gln39His), rs764522674, ClinGen CA4450640, ClinVar RCV001066717, ClinVar RCV001827430, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- Q39P (p.Gln39Pro), rs996012692, ClinGen CA164963691, ClinVar RCV002913957, Ensembl rs996012692, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- Q39L (p.Gln39Leu), gnomAD 7-117504315-A-T, REVEL 0.46, ESM-1b 0.00
- I40I (p.Ile40Ile), rs376538363, gnomAD 7-117504319-C-T, CADD 5.53
- P41L (p.Pro41Leu), NCI-TCGA TCGA novel, REVEL 0.38, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P41R (p.Pro41Arg), rs2484968302, ClinGen CA368987287, ClinVar RCV003311482, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- P41P (p.Pro41Pro), rs1798379857, gnomAD 7-117504322-T-C, CADD 9.77
- S42F (p.Ser42Phe), rs143456784, ClinGen CA325688, ClinVar RCV000029472, ClinVar RCV000586035, REVEL 0.71, ESM-1b 0.00, Pathogenic, in CF
- V43A (p.Val43Ala), rs754657555, ClinGen CA4450644, ClinVar RCV002383289, ClinVar RCV003331359, REVEL 0.17, ESM-1b 0.00, Conflicting interpretations, Cystic fibrosis; not specified
- V43I (p.Val43Ile), rs370586917, ClinGen CA4450642, ClinVar RCV001002488, ClinVar RCV001161751, REVEL 0.14, ESM-1b 0.00, Conflicting interpretations, not provided; Cystic fibrosis; not specified
- V43L (p.Val43Leu), 1000Genomes rs370586917, ESP rs370586917, ExAC rs370586917, TOPMed rs370586917, REVEL 0.16, ESM-1b 0.00, Uncertain significance
- D44G (p.Asp44Gly), rs1800074, ClinGen CA326451, ClinVar RCV000577104, UniProt VAR 000105, ESM-1b 1.00, AlphaMissense 0.54, Pathogenic, in CF
- D44V (p.Asp44Val), rs1800074, ClinGen CA4450645, ClinVar RCV002875913, UniProt VAR 000106, REVEL 0.81, ESM-1b 1.00, Uncertain significance, Cystic fibrosis; not specified
- D44I (p.Asp44Ile), gnomAD 7-117504328-TG-T, CADD 29.00
- S45C (p.Ser45Cys), rs1798380222, ClinGen CA368987358, ClinVar RCV001194369, ClinVar RCV001828606, REVEL 0.58, ESM-1b 0.00, Uncertain significance, not specified
- S45Y (p.Ser45Tyr), gnomAD 7-117504333-C-A, REVEL 0.56, ESM-1b 0.00
- A46D (p.Ala46Asp), rs151020603, ClinGen CA326462, ClinVar RCV000046286, 1000Genomes rs151020603, REVEL 0.80, ESM-1b 1.00, Pathogenic
- A46T (p.Ala46Thr), rs1584774381, ClinGen CA368987369, ClinVar RCV002319140, Ensembl rs1584774381, ESM-1b 0.00, AlphaMissense 0.59, Uncertain significance, Cystic fibrosis
- A46V (p.Ala46Val), rs151020603, ClinGen CA4450646, ClinVar RCV000728272, ClinVar RCV000757789, REVEL 0.47, ESM-1b 0.00, Uncertain significance, not provided; Congenital bilateral aplasia of vas deferens from CFTR mutation; n
- D47Y (p.Asp47Tyr), NCI-TCGA TCGA novel, REVEL 0.81, ESM-1b 0.23, Variant assessed as somatic; moderate impact.
- D47N (p.Asp47Asn), gnomAD 7-117504338-G-A, REVEL 0.52, ESM-1b 0.00
- D47V (p.Asp47Val), gnomAD 7-117504339-A-T, REVEL 0.81, ESM-1b 0.26
- D47E (p.Asp47Glu), gnomAD 7-117504340-C-A, REVEL 0.42, ESM-1b 0.00
- N48H (p.Asn48His), rs1248202161, ClinGen CA368987414, ClinVar RCV001909808, ClinVar RCV002469429, REVEL 0.26, ESM-1b 0.00, Uncertain significance, not specified; Cystic fibrosis
- N48K (p.Asn48Lys), rs771701007, ExAC rs771701007, TOPMed rs771701007, gnomAD rs771701007, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
- N48N (p.Asn48Asn), gnomAD 7-117504343-T-C, CADD 7.81
- L49P (p.Leu49Pro), 1000Genomes rs556662007, ExAC rs556662007, gnomAD rs556662007, REVEL 0.83, ESM-1b 1.00, Uncertain significance, not provided
- L49I (p.Leu49Ile), gnomAD 7-117504344-C-A, REVEL 0.42, ESM-1b 0.55
- L49V (p.Leu49Val), gnomAD 7-117504344-C-G, REVEL 0.41, ESM-1b 0.79
- L49L (p.Leu49Leu), rs140444668, gnomAD 7-117504346-A-C, CADD 1.06
- S50A (p.Ser50Ala), Ensembl rs397508217, ESM-1b 0.00, AlphaMissense 0.11, Pathogenic, in CBAVD
- S50P (p.Ser50Pro), rs397508217, ClinGen CA326503, ClinVar RCV000046319, Ensembl rs397508217, REVEL 0.81, ESM-1b 1.00, Pathogenic, in CBAVD
- S50Y (p.Ser50Tyr), rs397508220, ClinGen CA326509, ClinVar RCV000577356, ClinVar RCV001194310, REVEL 0.79, ESM-1b 1.00, Pathogenic, in CBAVD
- S50C (p.Ser50Cys), gnomAD 7-117504348-C-G, REVEL 0.63, ESM-1b 0.00
- S50F (p.Ser50Phe), gnomAD 7-117504348-C-T, REVEL 0.73, ESM-1b 1.00
- S50S (p.Ser50Ser), gnomAD 7-117504349-T-C, CADD 10.90
- E51K (p.Glu51Lys), NCI-TCGA Cosmic COSV5004, ESM-1b 0.00, AlphaMissense 0.54, Variant assessed as somatic; moderate impact.
- E51G (p.Glu51Gly), gnomAD 7-117504351-A-G, REVEL 0.71, ESM-1b 0.00
- E51E (p.Glu51Glu), gnomAD 7-117504352-A-G, CADD 10.70
- K52* (p.Lys52Ter), rs2484968431, ClinGen CA368987489, ClinVar RCV002815314, Pathogenic
- K52I (p.Lys52Ile), rs1562882767, ClinGen CA368987504, ClinVar RCV003165244, Ensembl rs1562882767, REVEL 0.42, ESM-1b 0.42, Uncertain significance, Cystic fibrosis
- K52N (p.Lys52Asn), rs1346705436, gnomAD 7-117504350-GA-G, CADD 29.60
- L53I (p.Leu53Ile), rs1346705436, gnomAD 7-117504350-G-GA, CADD 32.00
- L53L (p.Leu53Leu), rs2116635315, gnomAD 7-117504358-G-A, CADD 8.52
- L53F (p.Leu53Phe), gnomAD 7-117504358-G-T, REVEL 0.47, ESM-1b 0.00
- E54A (p.Glu54Ala), rs1320388257, ClinGen CA368987546, ClinVar RCV002811658, ESM-1b 0.51, AlphaMissense 0.68, Uncertain significance, Cystic fibrosis
- E54G (p.Glu54Gly), rs1320388257, ClinGen CA368987542, ClinVar RCV002401033, TOPMed rs1320388257, REVEL 0.88, ESM-1b 0.84, Uncertain significance, Cystic fibrosis
- E54K (p.Glu54Lys), gnomAD 7-117504359-G-A, REVEL 0.81, ESM-1b 0.46
- E54E (p.Glu54Glu), gnomAD 7-117504361-A-G, CADD 15.80
- E54D (p.Glu54Asp), gnomAD 7-117504361-A-T, REVEL 0.73, ESM-1b 0.30
- R55G (p.Arg55Gly), rs1798381048, ClinGen CA368987561, ClinVar RCV002403521, Ensembl rs1798381048, REVEL 0.65, ESM-1b 0.53, Uncertain significance, Cystic fibrosis
- R55I (p.Arg55Ile), rs2484968449, ClinGen CA368987571, ClinVar RCV002308618, ESM-1b 0.00, AlphaMissense 0.47, Uncertain significance, not specified
- R55K (p.Arg55Lys), rs2484968449, ClinGen CA368987566, ClinVar RCV003062132, REVEL 0.49, ESM-1b 0.00, Uncertain significance, Cystic fibrosis
Public CFTR analysis runs
- CFTR analysis run — CFTR (3,261 variants) — completed 2026-05-30
- CFTR analysis run — CFTR (3,261 variants) — completed 2026-05-15