IL17F (Interleukin-17F) variants and mutations
IL17F (also known as Interleukin-17F) is a human protein-coding gene encoding an interleukin-17F protein. It promotes epithelial and stromal antimicrobial responses, chemokine production, and neutrophil recruitment, often together with IL-17A. Dominant-negative or loss-of-function variants can predispose to chronic mucocutaneous candidiasis. This analysis covers 412 IL17F variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes Chronic mucocutaneous candidosis, psoriasis, and psoriasis vulgaris. Example IL17F variants include M1I, T2K, and T2T.
Variant analysis overview
- Gene: IL17F
- Protein: Interleukin-17F
- UniProt accession: Q96PD4
- Organism: Homo sapiens
- Variants analyzed: 412
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 239 unspecified-consequence records; 83 synonymous variants; 70 missense variants; 2 in-frame insertions; 11 frameshift variants; 2 in-frame deletions; 2 stop-gained variants; 2 splice-region variants; 1 substitution
- Prediction scores: 390 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Chronic mucocutaneous candidosis, psoriasis, psoriasis vulgaris, seborrheic dermatitis, erythematosquamous dermatosis, psoriatic arthritis, hidradenitis suppurativa, chronic mucocutaneous candidiasis, immune system disorder, parapsoriasis, ankylosing spondylitis, juvenile idiopathic arthritis.
Protein structure and variant hotspots
- Protein features: 1 post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable IL17F variants
Examples include M1I, T2K, T2T, V3V, K4N, K4R, p.Lys4dup, K4E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs752517532, ClinGen CA3854486, ClinVar RCV001918984, ClinVar RCV004596494, MetaLR 0.05, MetaSVM -1.01, Uncertain significance, Candidiasis, familial, 6
- T2K (p.Thr2Lys), NCI-TCGA Cosmic COSV6023, MetaLR 0.04, MetaSVM -1.11, Variant assessed as somatic; moderate impact.
- T2T (p.Thr2Thr), rs760292205, gnomAD 6-52244424-T-A, CADD 1.39
- V3V (p.Val3Val), rs1450491278, gnomAD 6-52244421-C-T, CADD 5.22
- K4N (p.Lys4Asn), rs2128268858, ClinGen CA364445380, ClinVar RCV001955134, Ensembl rs2128268858, REVEL 0.11, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- K4R (p.Lys4Arg), rs774716157, ClinGen CA3854484, ClinVar RCV003641891, ExAC rs774716157, REVEL 0.01, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- p.Lys4dup, gnomAD 6-52244416-G-GTCT, CADD 3.79
- K4E (p.Lys4Glu), gnomAD 6-52244420-T-C, REVEL 0.01, MetaLR 0.02
- T5N (p.Thr5Asn), ESP rs372238359, TOPMed rs372238359, REVEL 0.01, MetaLR 0.02
- T5P (p.Thr5Pro), Ensembl rs1582264332
- T5T (p.Thr5Thr), rs771476465, gnomAD 6-52244415-G-C, CADD 0.53
- T5I (p.Thr5Ile), gnomAD 6-52244416-G-A, REVEL 0.01, MetaLR 0.02
- L6P (p.Leu6Pro), 1000Genomes rs544119087, ExAC rs544119087, gnomAD rs544119087, REVEL 0.15, MetaLR 0.02
- L6L (p.Leu6Leu), gnomAD 6-52244412-C-G, CADD 0.19
- H7D (p.His7Asp), ESP rs368603313, ExAC rs368603313, gnomAD rs368603313, REVEL 0.04, MetaLR 0.02
- H7H (p.His7His), rs368282757, gnomAD 6-52244409-A-G, CADD 0.55
- H7R (p.His7Arg), gnomAD 6-52244410-T-C, REVEL 0.01, MetaLR 0.01
- H7P (p.His7Pro), gnomAD 6-52244410-T-G, REVEL 0.04, MetaLR 0.02
- G8C (p.Gly8Cys), NCI-TCGA Cosmic COSV1002, Variant assessed as somatic; moderate impact.
- G8D (p.Gly8Asp), NCI-TCGA Cosmic COSV6023, Variant assessed as somatic; moderate impact.
- G8S (p.Gly8Ser), TOPMed rs1303574403
- G8V (p.Gly8Val), rs533677189, NCI-TCGA Cosmic COSV6023, 1000Genomes rs533677189, ExAC rs533677189, REVEL 0.03, MetaLR 0.01, Variant assessed as somatic; moderate impact.
- P9S (p.Pro9Ser), ExAC rs776886326, gnomAD rs776886326, REVEL 0.02, MetaLR 0.01, Uncertain significance, Candidiasis, familial, 6
- P9P (p.Pro9Pro), rs1764125828, gnomAD 6-52244403-T-G, CADD 2.95
- P9A (p.Pro9Ala), gnomAD 6-52244405-G-C, REVEL 0.03, MetaLR 0.01
- A10P (p.Ala10Pro), TOPMed rs1764125763, gnomAD rs1764125763, REVEL 0.21, MetaLR 0.04
- A10V (p.Ala10Val), gnomAD 6-52244401-G-A, REVEL 0.03, MetaLR 0.04
- M11I (p.Met11Ile), NCI-TCGA Cosmic COSV6023, REVEL 0.11, MetaLR 0.04, Variant assessed as somatic; moderate impact.
- M11T (p.Met11Thr), ExAC rs768602093, gnomAD rs768602093, REVEL 0.10, MetaLR 0.04, Uncertain significance, Candidiasis, familial, 6
- M11V (p.Met11Val), rs1764125615, ClinGen CA364445345, ClinVar RCV003642308, TOPMed rs1764125615, REVEL 0.02, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- V12=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- V12D (p.Val12Asp), gnomAD rs1480169308, REVEL 0.37, MetaLR 0.12
- V12F (p.Val12Phe), Ensembl rs1003570788
- V12V (p.Val12Val), gnomAD 6-52238948-G-T, CADD 6.56
- V12S (p.Val12Ser), gnomAD 6-52238949-AC-A, CADD 33.00
- V12I (p.Val12Ile), gnomAD 6-52238950-C-T, REVEL 0.08, MetaLR 0.04
- K13E (p.Lys13Glu), rs1764019547, ClinGen CA364445320, ClinVar RCV001047528, Ensembl rs1764019547, AlphaMissense 0.18, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- K13N (p.Lys13Asn), 1000Genomes rs201369709, ESP rs201369709, ExAC rs201369709, TOPMed rs201369709, REVEL 0.16, MetaLR 0.10, Uncertain significance, not specified
- K13K (p.Lys13Lys), rs201369709, gnomAD 6-52238945-C-T, CADD 3.07
- L15L (p.Leu15Leu), gnomAD 6-52238939-C-T, CADD 1.66
- L16L (p.Leu16Leu), gnomAD 6-52238936-C-T, CADD 2.98
- L17R (p.Leu17Arg), ExAC rs746999872, gnomAD rs746999872, REVEL 0.36, MetaLR 0.16
- L17M (p.Leu17Met), gnomAD 6-52238935-G-T, REVEL 0.25, MetaLR 0.11
- S18* (p.Ser18Ter), rs145598353, ClinGen CA364445287, ClinVar RCV001988577, 1000Genomes rs145598353, AlphaMissense 0.07, MetaLR 0.01, Likely benign
- S18L (p.Ser18Leu), rs145598353, ClinGen CA3854458, ClinVar RCV000707054, ClinVar RCV004026741, REVEL 0.06, AlphaMissense 0.07, Conflicting interpretations, Candidiasis, familial, 6; not specified
- S18S (p.Ser18Ser), rs772321235, gnomAD 6-52238930-C-T, CADD 4.14
- S18W (p.Ser18Trp), gnomAD 6-52238931-G-C, REVEL 0.14, MetaLR 0.03
- I19L (p.Ile19Leu), Ensembl rs1764019231, MetaLR 0.02, MetaSVM -1.00
- I19T (p.Ile19Thr), rs1764019189, ClinGen CA364445281, ClinVar RCV001231704, Ensembl rs1764019189, REVEL 0.08, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- L20L (p.Leu20Leu), rs779054976, gnomAD 6-52238924-C-T, CADD 3.02
- G21R (p.Gly21Arg), ExAC rs779381932, gnomAD rs779381932, REVEL 0.32, MetaLR 0.10
- L22I (p.Leu22Ile), NCI-TCGA Cosmic COSV6023, Variant assessed as somatic; moderate impact.
- L22L (p.Leu22Leu), gnomAD 6-52238918-A-G, CADD 2.61
- A23D (p.Ala23Asp), Ensembl rs2128267834
- A23P (p.Ala23Pro), rs202158609, ClinGen CA3854453, ClinVar RCV003641092, ClinVar RCV004356429, REVEL 0.21, MetaLR 0.08, Uncertain significance, Candidiasis, familial, 6; not specified
- A23V (p.Ala23Val), rs2128267834, ClinGen CA364445256, ClinVar RCV003002672, AlphaMissense 0.41, MetaLR 0.09, Uncertain significance, Candidiasis, familial, 6
- L25V (p.Leu25Val), NCI-TCGA Cosmic COSV1002, Variant assessed as somatic; moderate impact.
- S26I (p.Ser26Ile), NCI-TCGA TCGA novel, MetaLR 0.03, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- S26N (p.Ser26Asn), gnomAD 6-52238907-C-T, REVEL 0.11, MetaLR 0.03
- E27E (p.Glu27Glu), rs1394768075, gnomAD 6-52238903-C-T, CADD 2.42
- A28S (p.Ala28Ser), ExAC rs777234343, gnomAD rs777234343, REVEL 0.09, MetaLR 0.03
- A28V (p.Ala28Val), rs201102127, ClinGen CA3854451, ClinVar RCV001245270, ClinVar RCV004034818, REVEL 0.03, MetaLR 0.01, Conflicting interpretations, not specified; not provided; Candidiasis, familial, 6
- A28G (p.Ala28Gly), rs1764018382, gnomAD 6-52238896-CTGCCG, CADD 22.50
- A28A (p.Ala28Ala), rs200098518, gnomAD 6-52238900-C-A, CADD 0.75
- A29S (p.Ala29Ser), rs2128267832, ClinGen CA2573140983, ClinVar RCV001949101, Ensembl rs2128267832, REVEL 0.09, MetaLR 0.05, Uncertain significance, Candidiasis, familial, 6
- A29G (p.Ala29Gly), gnomAD 6-52238898-G-C, REVEL 0.03, MetaLR 0.03
- A30T (p.Ala30Thr), gnomAD 6-52238896-C-T, REVEL 0.28, MetaLR 0.16
- R31G (p.Arg31Gly), 1000Genomes rs377717323, ESP rs377717323, ExAC rs377717323, TOPMed rs377717323, Uncertain significance
- R31P (p.Arg31Pro), ExAC rs754531850, TOPMed rs754531850, gnomAD rs754531850, MetaLR 0.03, MetaSVM -1.04, Uncertain significance
- R31Q (p.Arg31Gln), rs754531850, ClinGen CA364445210, ClinVar RCV003872256, ExAC rs754531850, REVEL 0.01, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- R31W (p.Arg31Trp), rs377717323, ClinGen CA3854449, ClinVar RCV001065751, 1000Genomes rs377717323, REVEL 0.05, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- R31R (p.Arg31Arg), gnomAD 6-52238891-C-A, CADD 3.00
- K32P (p.Lys32Pro), gnomAD 6-52238885-GATTTT, CADD 22.20
- K32E (p.Lys32Glu), gnomAD 6-52238890-T-TC, CADD 22.60
- I33M (p.Ile33Met), rs1764017856, ClinGen CA364445194, ClinVar RCV002046767, TOPMed rs1764017856, AlphaMissense 0.08, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- I33N (p.Ile33Asn), rs746592495, gnomAD 6-52238886-A-AT, CADD 13.60
- I33S (p.Ile33Ser), gnomAD 6-52238886-AT-A, CADD 12.80
- P34L (p.Pro34Leu), rs2532689817, ClinGen CA364445188, ClinVar RCV004143403, REVEL 0.04, MetaLR 0.02, Uncertain significance, not specified
- P34P (p.Pro34Pro), gnomAD 6-52238882-G-C, CADD 2.17
- K35R (p.Lys35Arg), rs750915214, ClinGen CA3854446, ClinVar RCV001864992, ClinVar RCV005584907, REVEL 0.01, MetaLR 0.03, Uncertain significance, not specified; Candidiasis, familial, 6
- V36I (p.Val36Ile), Ensembl rs1562359207, REVEL 0.09, MetaLR 0.03
- V36V (p.Val36Val), gnomAD 6-52238876-T-C, CADD 1.28
- V36A (p.Val36Ala), gnomAD 6-52238877-A-G, REVEL 0.04, MetaLR 0.01
- V36* (p.Val36Ter), rs772699210, gnomAD 6-52238878-CT-C, CADD 19.10
- G37R (p.Gly37Arg), rs765796484, NCI-TCGA Cosmic COSV1002, ExAC rs765796484, REVEL 0.17, MetaLR 0.08, Variant assessed as somatic; moderate impact.
- G37G (p.Gly37Gly), rs1582260891, gnomAD 6-52238873-T-C, CADD 2.16
- G37A (p.Gly37Ala), gnomAD 6-52238874-C-G, REVEL 0.12, MetaLR 0.02
- H38R (p.His38Arg), gnomAD rs1248079294, REVEL 0.12, MetaLR 0.02
- H38Y (p.His38Tyr), rs555372013, ClinGen CA3854443, ClinVar RCV003121569, 1000Genomes rs555372013, REVEL 0.07, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- H38H (p.His38His), rs1192851440, gnomAD 6-52238870-A-G, CADD 0.05
- T39A (p.Thr39Ala), rs1436156723, ClinGen CA364445162, ClinVar RCV001943178, TOPMed rs1436156723, REVEL 0.02, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- T39I (p.Thr39Ile), rs1005482869, ClinGen CA364445158, ClinVar RCV003527442, AlphaMissense 0.07, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- T39N (p.Thr39Asn), TOPMed rs1005482869
- T39P (p.Thr39Pro), TOPMed rs1436156723, Uncertain significance
- T39F (p.Thr39Phe), rs1468823113, gnomAD 6-52238868-GTA-G, CADD 1.87
- F40S (p.Phe40Ser), gnomAD 6-52238865-A-G, REVEL 0.03, MetaLR 0.02
- F41I (p.Phe41Ile), rs1764017239, ClinGen CA364445149, ClinVar RCV001998998, gnomAD rs1764017239, REVEL 0.02, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- F41L (p.Phe41Leu), rs1582260865, ClinGen CA364445142, ClinVar RCV000802633, Ensembl rs1582260865, AlphaMissense 0.34, MetaLR 0.02, Uncertain significance, not specified
- F41S (p.Phe41Ser), NCI-TCGA Cosmic COSV6023, TOPMed rs1764017098, gnomAD rs1764017098, REVEL 0.07, MetaLR 0.03, Variant assessed as somatic; moderate impact.
- F41C (p.Phe41Cys), gnomAD 6-52238862-A-C, REVEL 0.10, MetaLR 0.06
- Q42L (p.Gln42Leu), rs1764016998, ClinGen CA364445136, ClinVar RCV003033166, AlphaMissense 0.07, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- Q42P (p.Gln42Pro), Ensembl rs1764016998
- Q42K (p.Gln42Lys), gnomAD 6-52238860-G-T, REVEL 0.11, MetaLR 0.03
- K43E (p.Lys43Glu), gnomAD rs1211948877, REVEL 0.07, MetaLR 0.03
- K43N (p.Lys43Asn), TOPMed rs1462020956, gnomAD rs1462020956, REVEL 0.03, MetaLR 0.02
- K43R (p.Lys43Arg), NCI-TCGA TCGA novel, REVEL 0.05, MetaLR 0.03, Variant assessed as somatic; moderate impact.
- K43T (p.Lys43Thr), gnomAD 6-52238856-T-G, REVEL 0.02, MetaLR 0.03
- P44A (p.Pro44Ala), TOPMed rs1331321771, gnomAD rs1331321771, REVEL 0.12, MetaLR 0.03, Uncertain significance
- P44R (p.Pro44Arg), ExAC rs777063605, gnomAD rs777063605, REVEL 0.03, MetaLR 0.03
- P44S (p.Pro44Ser), rs1331321771, ClinGen CA364445125, ClinVar RCV002999268, TOPMed rs1331321771, REVEL 0.05, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- P44P (p.Pro44Pro), gnomAD 6-52238852-A-C, CADD 1.64
- E45D (p.Glu45Asp), NCI-TCGA Cosmic COSV6023, MetaLR 0.02, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- E45G (p.Glu45Gly), rs535783581, ClinGen CA3854440, ClinVar RCV002647790, ClinVar RCV004072100, REVEL 0.05, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6; not specified
- E45K (p.Glu45Lys), rs1238529220, ClinGen CA364445120, ClinVar RCV003641665, gnomAD rs1238529220, REVEL 0.02, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- E45E (p.Glu45Glu), rs1365387979, gnomAD 6-52238849-C-T, CADD 1.36
- S46G (p.Ser46Gly), gnomAD rs1303812954, REVEL 0.08, MetaLR 0.02
- S46N (p.Ser46Asn), rs1442309467, ClinGen CA364445110, ClinVar RCV003525518, gnomAD rs1442309467, REVEL 0.08, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- C47F (p.Cys47Phe), rs760922852, ClinGen CA3854439, ClinVar RCV000800724, ExAC rs760922852, REVEL 0.40, MetaLR 0.20, Uncertain significance, Candidiasis, familial, 6
- C47C (p.Cys47Cys), rs775626181, gnomAD 6-52238843-G-A, CADD 3.66
- C47G (p.Cys47Gly), gnomAD 6-52238845-A-C, REVEL 0.42, MetaLR 0.18
- C47R (p.Cys47Arg), gnomAD 6-52238845-A-G, REVEL 0.42, MetaLR 0.18
- P48L (p.Pro48Leu), rs1390182393, gnomAD rs1390182393, REVEL 0.35, MetaLR 0.18, Uncertain significance, Candidiasis, familial, 6
- P48S (p.Pro48Ser), rs772268344, ClinGen CA3854437, NCI-TCGA Cosmic COSV1002, ClinVar RCV003526831, REVEL 0.36, MetaLR 0.15, Uncertain significance, Candidiasis, familial, 6
- P48P (p.Pro48Pro), rs759760136, gnomAD 6-52238840-C-T, CADD 0.11
- P49S (p.Pro49Ser), NCI-TCGA Cosmic COSV1002, MetaLR 0.06, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- V50V (p.Val50Val), rs774364967, gnomAD 6-52238834-C-T, CADD 2.90
- P51L (p.Pro51Leu), ExAC rs771007170, gnomAD rs771007170
- P51T (p.Pro51Thr), TOPMed rs1764016115
- G53D (p.Gly53Asp), Ensembl rs2128267802, MetaLR 0.02, MetaSVM -0.96
- G53G (p.Gly53Gly), rs748990409, gnomAD 6-52238825-A-G, CADD 1.42
- S54G (p.Ser54Gly), TOPMed rs1372951889, gnomAD rs1372951889, REVEL 0.08, MetaLR 0.04
- S54N (p.Ser54Asn), Ensembl rs1562359154, REVEL 0.04, MetaLR 0.03
- S54R (p.Ser54Arg), TOPMed rs1372951889, gnomAD rs1372951889, REVEL 0.14, MetaLR 0.05
- M55I (p.Met55Ile), NCI-TCGA Cosmic COSV6023, MetaLR 0.02, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- M55T (p.Met55Thr), gnomAD 6-52238820-A-G, REVEL 0.13, MetaLR 0.04
- K56K (p.Lys56Lys), rs1454529211, gnomAD 6-52238816-C-T, CADD 0.56
- D58G (p.Asp58Gly), gnomAD rs1252375028, REVEL 0.26, MetaLR 0.14
- D58D (p.Asp58Asp), rs889879171, gnomAD 6-52238810-G-A, CADD 5.73
- D58A (p.Asp58Ala), gnomAD 6-52238811-T-G, REVEL 0.26, MetaLR 0.11
- D58V (p.Asp58Val), gnomAD 6-52238811-T-A, REVEL 0.32, MetaLR 0.14
- I59T (p.Ile59Thr), ExAC rs769515909, TOPMed rs769515909, gnomAD rs769515909, REVEL 0.11, MetaLR 0.05
- I59V (p.Ile59Val), ExAC rs777653129, TOPMed rs777653129, gnomAD rs777653129, REVEL 0.08, MetaLR 0.05, Uncertain significance, not specified
- I59I (p.Ile59Ile), rs1433771627, gnomAD 6-52238807-A-G, CADD 3.91
- G60C (p.Gly60Cys), NCI-TCGA Cosmic COSV6023, Variant assessed as somatic; moderate impact.
- G60D (p.Gly60Asp), NCI-TCGA Cosmic COSV1044, Variant assessed as somatic; moderate impact.
- G60S (p.Gly60Ser), TOPMed rs1263775638
- G60G (p.Gly60Gly), rs2128267796, gnomAD 6-52238804-G-T, CADD 1.34
- I61N (p.Ile61Asn), rs2532689574, ClinGen CA364445011, ClinVar RCV002834168, Uncertain significance, Candidiasis, familial, 6
- I61V (p.Ile61Val), rs1488403842, ClinGen CA364445013, ClinVar RCV002009988, TOPMed rs1488403842, REVEL 0.04, MetaLR 0.04, Uncertain significance, Candidiasis, familial, 6
- I62M (p.Ile62Met), NCI-TCGA TCGA novel, MetaLR 0.03, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- I62N (p.Ile62Asn), ExAC rs747813737, gnomAD rs747813737, REVEL 0.17, MetaLR 0.05
- I62T (p.Ile62Thr), ExAC rs747813737, gnomAD rs747813737, REVEL 0.10, MetaLR 0.04
- I62I (p.Ile62Ile), rs1562359139, gnomAD 6-52238798-G-A, CADD 5.25
- I62S (p.Ile62Ser), gnomAD 6-52238799-A-C, REVEL 0.09, MetaLR 0.04
- I62L (p.Ile62Leu), gnomAD 6-52238800-T-G, REVEL 0.04, MetaLR 0.01
- N63D (p.Asn63Asp), Ensembl rs1764015180, REVEL 0.10, MetaLR 0.05
- N63S (p.Asn63Ser), rs780766050, ClinGen CA3854429, ClinVar RCV004135527, ClinVar RCV005099711, REVEL 0.04, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6; not specified
- N63N (p.Asn63Asn), rs1348748674, gnomAD 6-52238795-A-G, CADD 0.63
- E64A (p.Glu64Ala), gnomAD rs1191571928, REVEL 0.06, MetaLR 0.02
- E64K (p.Glu64Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N65K (p.Asn65Lys), Ensembl rs1764015001, REVEL 0.04, MetaLR 0.03
- N65T (p.Asn65Thr), gnomAD 6-52238790-T-G, REVEL 0.07, MetaLR 0.05
- N65I (p.Asn65Ile), gnomAD 6-52238790-T-A, REVEL 0.16, MetaLR 0.09
- Q66Q (p.Gln66Gln), gnomAD 6-52238786-C-T, CADD 1.52
- Q66R (p.Gln66Arg), gnomAD 6-52238787-T-C, REVEL 0.05, MetaLR 0.03
- R67C (p.Arg67Cys), rs754476266, ClinGen CA3854428, ClinVar RCV002962494, ExAC rs754476266, REVEL 0.13, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- R67G (p.Arg67Gly), ExAC rs754476266, TOPMed rs754476266, gnomAD rs754476266, REVEL 0.06, MetaLR 0.02, Uncertain significance
- R67H (p.Arg67His), rs1235526621, ClinGen CA364444967, ClinVar RCV001159050, TOPMed rs1235526621, REVEL 0.06, MetaLR 0.02, Uncertain significance, Candidiasis, familial, 6
- R67S (p.Arg67Ser), rs754476266, ClinGen CA364444970, ClinVar RCV001213344, ExAC rs754476266, REVEL 0.06, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- R67R (p.Arg67Arg), rs751070725, gnomAD 6-52238783-G-A, CADD 0.10
- V68D (p.Val68Asp), ExAC rs757780544, gnomAD rs757780544, REVEL 0.06, MetaLR 0.03, Uncertain significance, Candidiasis, familial, 6
- V68I (p.Val68Ile), rs569473195, ClinGen CA3854426, NCI-TCGA Cosmic COSV6023, ClinVar RCV002994858, REVEL 0.05, MetaLR 0.02, Conflicting interpretations, not specified; Candidiasis, familial, 6
- V68V (p.Val68Val), rs1428805376, gnomAD 6-52238780-A-G, CADD 1.14
- S69S (p.Ser69Ser), rs1764013779, gnomAD 6-52238777-G-A, CADD 2.10
- M70I (p.Met70Ile), Ensembl rs1043083376, REVEL 0.05, MetaLR 0.02
- M70K (p.Met70Lys), ExAC rs754344583, gnomAD rs754344583, REVEL 0.06, MetaLR 0.02
- M70L (p.Met70Leu), NCI-TCGA Cosmic COSV1002, MetaLR 0.02, MetaSVM -1.07, Variant assessed as somatic; moderate impact.
- M70V (p.Met70Val), rs764517083, ClinGen CA138969980, ClinVar RCV001875382, TOPMed rs764517083, REVEL 0.04, MetaLR 0.01, Uncertain significance, Candidiasis, familial, 6
- M70T (p.Met70Thr), gnomAD 6-52238775-A-G, REVEL 0.06, MetaLR 0.02
- R72C (p.Arg72Cys), rs764500129, ClinGen CA3854423, NCI-TCGA Cosmic COSV1002, NCI-TCGA Cosmic COSV6023, REVEL 0.16, MetaLR 0.06, Uncertain significance, not specified; Candidiasis, familial, 6
Public IL17F analysis runs
- IL17F analysis run — IL17F (412 variants) — completed 2026-08-19