CYP17A1 (P05093) variants and mutations
CYP17A1 (also known as P05093) is a human protein-coding gene encoding a steroid 17-alpha-hydroxylase/17,20 lyase protein. Its 17-alpha-hydroxylase and 17,20-lyase activities direct adrenal and gonadal steroid synthesis toward glucocorticoids and sex steroids. Biallelic deficiency causes 17-alpha-hydroxylase/17,20-lyase deficiency with hypertension, hypokalemia, and impaired sexual development. This analysis covers 839 CYP17A1 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, 46,XY disorder of sex development due to isolated 17,20 lyase deficiency, and congenital adrenal hyperplasia. Example CYP17A1 variants include M1I, M1T, and M1V.
Variant analysis overview
- Gene: CYP17A1
- Protein: P05093
- UniProt accession: P05093
- Organism: Homo sapiens
- Variants analyzed: 839
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 553 unspecified-consequence records; 1 stop retained variant; 3 stop lost; 82 synonymous variants; 166 missense variants; 14 frameshift variants; 3 in-frame deletions; 10 stop-gained variants; 6 substitution
- Prediction scores: 687 variants have prediction scores (82% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, 46,XY disorder of sex development due to isolated 17,20 lyase deficiency, congenital adrenal hyperplasia, prostate cancer, adrenal gland disorder, 17,20-lyase deficiency, isolated, 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete, 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial, prostate neoplasm, Cushing syndrome, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prostate carcinoma.
Protein structure and variant hotspots
- Protein features: 2 binding 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 CYP17A1 variants
Examples include M1I, M1T, M1V, W2*, E3D, E3K, V5G, V5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs61754262, ClinGen CA212296265, ClinVar RCV002223055, ClinVar RCV002502035, MetaLR 0.32, MetaSVM -0.34, Likely pathogenic, Congenital adrenal hyperplasia; not provided; Deficiency of steroid 17-alpha-mon
- M1T (p.Met1Thr), rs1361284521, ClinGen CA377941182, ClinVar RCV001048441, MetaLR 0.43, MetaSVM -0.08, Pathogenic/Likely pathogenic, not provided; Deficiency of steroid 17-alpha-monooxygenase
- M1V (p.Met1Val), rs1590204913, ClinGen CA377941185, ClinVar RCV000806853, ClinVar RCV001830758, MetaLR 0.26, MetaSVM -0.61, Likely pathogenic, Deficiency of steroid 17-alpha-monooxygenase; not provided
- W2* (p.Trp2Ter), rs1844178791, ClinGen CA377941174, ClinVar RCV001211509, Ensembl rs1844178791, CADD 36.00, Pathogenic
- E3D (p.Glu3Asp), ExAC rs774474909, gnomAD rs774474909, Likely benign
- E3K (p.Glu3Lys), ExAC rs761929275, gnomAD rs761929275, REVEL 0.09, CADD 15.30
- V5G (p.Val5Gly), TOPMed rs886171252, REVEL 0.32, CADD 18.00, Uncertain significance, Inborn genetic diseases
- V5L (p.Val5Leu), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Variant assessed as somatic; moderate impact.
- V5M (p.Val5Met), ExAC rs749456949, TOPMed rs749456949, gnomAD rs749456949, REVEL 0.17, CADD 7.42
- L7P (p.Leu7Pro), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, Variant assessed as somatic; moderate impact.
- L10P (p.Leu10Pro), ExAC rs779723871, gnomAD rs779723871, REVEL 0.54, CADD 23.90
- T11I (p.Thr11Ile), rs72559703, ClinGen CA5669661, ClinVar RCV000885354, ClinVar RCV001825787, REVEL 0.07, CADD 0.61, Likely benign, Deficiency of steroid 17-alpha-monooxygenase; not provided
- L12V (p.Leu12Val), Ensembl rs1844178175, REVEL 0.04, CADD 3.75, Uncertain significance, Inborn genetic diseases
- A13V (p.Ala13Val), gnomAD rs528612678, REVEL 0.03, CADD 9.95
- Y14H (p.Tyr14His), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, Variant assessed as somatic; moderate impact.
- L15W (p.Leu15Trp), TOPMed rs1844177977, gnomAD rs1844177977, REVEL 0.24, CADD 16.80
- W17* (p.Trp17Ter), rs104894141, ClinGen CA115186, ClinVar RCV000001862, ClinVar RCV003555892, CADD 34.00, Pathogenic
- W17C (p.Trp17Cys), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, Variant assessed as somatic; moderate impact.
- W17S (p.Trp17Ser), Ensembl rs1844177884
- P18L (p.Pro18Leu), Ensembl rs1844177781, REVEL 0.04, CADD 12.20
- R20K (p.Arg20Lys), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, Variant assessed as somatic; moderate impact.
- R21G (p.Arg21Gly), Ensembl rs998824476
- R21K (p.Arg21Lys), rs61754263, ClinGen CA5669659, ClinVar RCV000488920, ClinVar RCV001249435, REVEL 0.23, CADD 0.71, Conflicting interpretations, not provided; Deficiency of steroid 17-alpha-monooxygenase
- R21S (p.Arg21Ser), TOPMed rs1354556683, gnomAD rs1354556683, REVEL 0.17, CADD 11.50
- C22R (p.Cys22Arg), ExAC rs781329931, gnomAD rs781329931, REVEL 0.08, CADD 0.01
- C22W (p.Cys22Trp), rs762563, UniProt VAR 011755, Ensembl rs762563, AlphaMissense 0.21, MetaLR 0.15
- P23H (p.Pro23His), rs368405367, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, ESP rs368405367, REVEL 0.15, CADD 10.90, Variant assessed as somatic; moderate impact.
- P23L (p.Pro23Leu), ESP rs368405367, TOPMed rs368405367, gnomAD rs368405367, REVEL 0.06, CADD 5.46
- A25T (p.Ala25Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K26E (p.Lys26Glu), rs1360144239, gnomAD rs1360144239, AlphaMissense 0.19, MetaLR 0.19, Variant assessed as somatic; moderate impact.
- Y27* (p.Tyr27Ter), rs104894152, ClinGen CA115198, ClinVar RCV000001874, Ensembl rs104894152, Pathogenic
- Y27S (p.Tyr27Ser), cosmic curated COSV64004, ExAC rs757251521, gnomAD rs757251521, REVEL 0.14, CADD 16.10
- P28H (p.Pro28His), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, Variant assessed as somatic; moderate impact.
- P28L (p.Pro28Leu), cosmic curated COSV64004, Ensembl rs1844176966, REVEL 0.63, CADD 23.00
- P28S (p.Pro28Ser), TOPMed rs1187242672
- K29M (p.Lys29Met), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, Variant assessed as somatic; moderate impact.
- K29Q (p.Lys29Gln), ExAC rs751185024, gnomAD rs751185024, REVEL 0.11, CADD 14.90
- K29R (p.Lys29Arg), Ensembl rs202102400
- S30N (p.Ser30Asn), gnomAD rs1341416067, REVEL 0.31, CADD 22.30
- L31F (p.Leu31Phe), ExAC rs777270119, gnomAD rs777270119, REVEL 0.40, CADD 24.30
- L31H (p.Leu31His), TOPMed rs1844176681
- L32P (p.Leu32Pro), NCI-TCGA Cosmic COSV6400, REVEL 0.26, CADD 16.50, Variant assessed as somatic; moderate impact.
- P35L (p.Pro35Leu), UniProt VAR 022745, Pathogenic, in AH5
- L36R (p.Leu36Arg), ExAC rs766687468, gnomAD rs766687468, REVEL 0.67, CADD 25.00
- V37G (p.Val37Gly), gnomAD rs1394909194, REVEL 0.74, CADD 25.10
- V37M (p.Val37Met), Ensembl rs1844176330
- G38A (p.Gly38Ala), gnomAD rs1425406398
- S39R (p.Ser39Arg), ExAC rs768069334, gnomAD rs768069334, REVEL 0.70, CADD 24.20
- S39T (p.Ser39Thr), cosmic curated COSV10652, ExAC rs762303530, gnomAD rs762303530
- P41T (p.Pro41Thr), ExAC rs774295656, gnomAD rs774295656, REVEL 0.38, CADD 25.00
- L43F (p.Leu43Phe), Ensembl rs1844175790, REVEL 0.49, CADD 20.40
- P44H (p.Pro44His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P44S (p.Pro44Ser), cosmic curated COSV64004, ExAC rs775823885, gnomAD rs775823885
- R45K (p.Arg45Lys), TOPMed rs1844175591, REVEL 0.11, CADD 12.50
- H46Y (p.His46Tyr), TOPMed rs894320518, gnomAD rs894320518, REVEL 0.19, CADD 16.00
- G47S (p.Gly47Ser), rs776568154, ClinGen CA5669640, ClinVar RCV003272394, ExAC rs776568154, REVEL 0.17, CADD 17.40, Uncertain significance, Inborn genetic diseases
- H48R (p.His48Arg), gnomAD rs1844175156, REVEL 0.21, CADD 17.40
- H48Y (p.His48Tyr), rs2493245805, ClinGen CA377940897, ClinVar RCV002999014, REVEL 0.29, CADD 19.90, Uncertain significance, not provided
- M49T (p.Met49Thr), gnomAD rs1431588115, REVEL 0.23, CADD 0.84
- M49V (p.Met49Val), Ensembl rs1844175113, REVEL 0.09, CADD 2.70
- H50N (p.His50Asn), ExAC rs770996975, gnomAD rs770996975, REVEL 0.61, CADD 24.00
- N51D (p.Asn51Asp), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, Variant assessed as somatic; moderate impact.
- F53C (p.Phe53Cys), Ensembl rs2134085526
- F53L (p.Phe53Leu), ExAC rs746908611, gnomAD rs746908611, NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, REVEL 0.17, CADD 15.50, Variant assessed as somatic; moderate impact., in AH5
- F53V (p.Phe53Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact., in AH5
- F54L (p.Phe54Leu), TOPMed rs1338605474, REVEL 0.19, CADD 20.10
- K59I (p.Lys59Ile), TOPMed rs1465948613, gnomAD rs1465948613, REVEL 0.67, CADD 24.20
- Y60* (p.Tyr60Ter), rs61754264, ClinGen CA377940800, ClinVar RCV002796335, Pathogenic
- P62R (p.Pro62Arg), ESP rs370791765, ExAC rs370791765, gnomAD rs370791765, REVEL 0.52, CADD 22.10
- P62S (p.Pro62Ser), ExAC rs777171001, gnomAD rs777171001, REVEL 0.31, CADD 17.50
- I63T (p.Ile63Thr), TOPMed rs1844174479, Uncertain significance, Inborn genetic diseases
- Y64F (p.Tyr64Phe), gnomAD rs1183147390
- Y64S (p.Tyr64Ser), rs1183147390, UniProt VAR 001271, gnomAD rs1183147390, REVEL 0.67, CADD 22.80, Pathogenic, in AH5
- S65L (p.Ser65Leu), rs906926519, ClinGen CA212296058, NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, REVEL 0.55, CADD 24.80, Uncertain significance, not provided
- V66A (p.Val66Ala), Ensembl rs1844174044
- V66L (p.Val66Leu), gnomAD rs1844174089, REVEL 0.10, CADD 0.00
- R67C (p.Arg67Cys), rs750853745, NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, ExAC rs750853745, REVEL 0.35, CADD 21.20, Variant assessed as somatic; moderate impact.
- R67H (p.Arg67His), rs376074317, ClinGen CA5669630, ClinVar RCV001106936, ESP rs376074317, REVEL 0.22, CADD 14.40, Uncertain significance, Deficiency of steroid 17-alpha-monooxygenase
- R67L (p.Arg67Leu), ESP rs376074317, ExAC rs376074317, TOPMed rs376074317, gnomAD rs376074317, REVEL 0.52, CADD 14.50, Uncertain significance
- M68L (p.Met68Leu), ExAC rs752052614, gnomAD rs752052614, REVEL 0.13, CADD 0.02
- M68V (p.Met68Val), ExAC rs752052614, gnomAD rs752052614, REVEL 0.25, CADD 0.10
- G69V (p.Gly69Val), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Variant assessed as somatic; moderate impact.
- T70A (p.Thr70Ala), TOPMed rs908864807, gnomAD rs908864807, REVEL 0.12, CADD 0.18
- T72S (p.Thr72Ser), TOPMed rs1844173727, REVEL 0.29, CADD 1.47
- T73I (p.Thr73Ile), rs1290838496, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, gnomAD rs1290838496, REVEL 0.08, CADD 7.30, Variant assessed as somatic; moderate impact.
- V74L (p.Val74Leu), rs1376979758, TOPMed rs1376979758, gnomAD rs1376979758, REVEL 0.52, CADD 21.30, Variant assessed as somatic; moderate impact.
- I75M (p.Ile75Met), rs931528592, ClinGen CA212295998, ClinVar RCV001280135, gnomAD rs931528592, REVEL 0.16, CADD 0.73, Uncertain significance, Deficiency of steroid 17-alpha-monooxygenase
- V76G (p.Val76Gly), Ensembl rs2134085464
- G77S (p.Gly77Ser), 1000Genomes rs61754265, ESP rs61754265, ExAC rs61754265, TOPMed rs61754265, REVEL 0.33, CADD 22.60
- H78Q (p.His78Gln), TOPMed rs1464888181, gnomAD rs1464888181, REVEL 0.20, CADD 7.76, Likely benign
- H79D (p.His79Asp), rs370973897, ClinGen CA5669625, ClinVar RCV001280133, ESP rs370973897, REVEL 0.40, CADD 19.10, Uncertain significance, Deficiency of steroid 17-alpha-monooxygenase
- H79N (p.His79Asn), rs370973897, ClinGen CA212295994, ClinVar RCV001280134, ClinVar RCV004035501, REVEL 0.29, CADD 18.00, Uncertain significance, Inborn genetic diseases
- H79Q (p.His79Gln), TOPMed rs974635568, gnomAD rs974635568, REVEL 0.33, CADD 22.80, Likely benign
- L81V (p.Leu81Val), gnomAD rs1220664949, REVEL 0.33, CADD 22.70
- A82D (p.Ala82Asp), rs2493245623, ClinGen CA377940669, ClinVar RCV003468643, ClinVar RCV003553987, REVEL 0.85, CADD 27.80, Pathogenic/Likely pathogenic, Deficiency of steroid 17-alpha-monooxygenase; not provided
- K83R (p.Lys83Arg), ExAC rs776580666, TOPMed rs776580666, gnomAD rs776580666, REVEL 0.16, CADD 15.30
- E84D (p.Glu84Asp), ExAC rs770800801, gnomAD rs770800801, REVEL 0.61, CADD 24.00, Likely benign
- E84K (p.Glu84Lys), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, Variant assessed as somatic; moderate impact.
- E84V (p.Glu84Val), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, REVEL 0.84, CADD 29.20, Variant assessed as somatic; moderate impact.
- V85A (p.Val85Ala), gnomAD rs1163541451, REVEL 0.40, CADD 24.00
- V85G (p.Val85Gly), gnomAD rs1163541451
- V85L (p.Val85Leu), TOPMed rs1844172932, REVEL 0.47, CADD 23.30
- L86F (p.Leu86Phe), gnomAD rs1844172806, REVEL 0.66, CADD 25.40
- L86I (p.Leu86Ile), gnomAD rs1844172806, REVEL 0.54, CADD 25.20
- I87N (p.Ile87Asn), ExAC rs771880642, gnomAD rs771880642, REVEL 0.41, CADD 27.10
- I87V (p.Ile87Val), gnomAD rs1240547300, REVEL 0.22, CADD 4.74
- K88N (p.Lys88Asn), NCI-TCGA Cosmic COSV6400, Variant assessed as somatic; moderate impact.
- G90D (p.Gly90Asp), ExAC rs778389140, TOPMed rs778389140, gnomAD rs778389140, REVEL 0.82, CADD 26.20
- G90V (p.Gly90Val), ExAC rs778389140, TOPMed rs778389140, gnomAD rs778389140, REVEL 0.86, CADD 26.00
- D92Y (p.Asp92Tyr), Ensembl rs1844172495, REVEL 0.36, CADD 25.50
- F93C (p.Phe93Cys), rs104894146, ClinGen CA115188, ClinVar RCV000001864, UniProt VAR 013147, AlphaMissense 0.95, MetaLR 0.76, Pathogenic, 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
- S94C (p.Ser94Cys), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, Variant assessed as somatic; moderate impact.
- G95V (p.Gly95Val), gnomAD rs1320026433
- G95W (p.Gly95Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R96L (p.Arg96Leu), rs104894153, ClinGen CA377940576, ClinVar RCV003719569, AlphaMissense 0.91, MetaLR 0.79, Likely pathogenic, not provided
- R96Q (p.Arg96Gln), rs104894153, ClinGen CA115200, ClinVar RCV000001875, ClinVar RCV001067683, REVEL 0.77, AlphaMissense 0.91, Pathogenic, Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-monooxygenase; no
- R96W (p.Arg96Trp), rs104894138, ClinGen CA115183, cosmic curated COSV64004, ClinVar RCV000001858, REVEL 0.85, CADD 24.70, Pathogenic/Likely pathogenic, Differences in sex development; not provided; Congenital adrenal hyperplasia
- Q98* (p.Gln98Ter), rs2493245563, ClinGen CA377940567, ClinVar RCV002829649, Pathogenic
- Q98L (p.Gln98Leu), ExAC rs757599828, gnomAD rs757599828, REVEL 0.08, CADD 6.74
- M99I (p.Met99Ile), cosmic curated COSV10468, ExAC rs751850976, TOPMed rs751850976, gnomAD rs751850976, REVEL 0.14, CADD 22.80
- M99V (p.Met99Val), Ensembl rs1844172026, REVEL 0.07, CADD 0.11
- A100T (p.Ala100Thr), gnomAD rs1298428228, REVEL 0.10, CADD 1.02
- L102P (p.Leu102Pro), ExAC rs769319989, gnomAD rs769319989, REVEL 0.41, CADD 22.60
- D103A (p.Asp103Ala), gnomAD rs1296911042, REVEL 0.13, CADD 11.90
- D103H (p.Asp103His), ExAC rs747477069, gnomAD rs747477069, REVEL 0.24, CADD 22.60
- I104S (p.Ile104Ser), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, Variant assessed as somatic; moderate impact.
- A105T (p.Ala105Thr), ExAC rs758961949, gnomAD rs758961949, REVEL 0.10, CADD 15.70
- A105V (p.Ala105Val), rs139936404, ClinGen CA5669593, ClinVar RCV002973540, ClinVar RCV006473420, REVEL 0.15, CADD 22.10, Uncertain significance, Inborn genetic diseases; not provided
- S106P (p.Ser106Pro), rs104894135, ClinGen CA115179, ClinVar RCV000001852, ClinVar RCV000288112, REVEL 0.73, CADD 25.60, Pathogenic, not provided; Deficiency of steroid 17-alpha-monooxygenase
- N108I (p.Asn108Ile), ExAC rs760801519, gnomAD rs760801519, REVEL 0.36, CADD 24.60
- R109C (p.Arg109Cys), cosmic curated COSV64005, ExAC rs750236382, TOPMed rs750236382, gnomAD rs750236382, REVEL 0.26, CADD 21.80
- R109H (p.Arg109His), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, TOPMed rs1844148335, gnomAD rs1844148335, REVEL 0.17, CADD 21.30, Variant assessed as somatic; moderate impact.
- R109S (p.Arg109Ser), ExAC rs750236382, TOPMed rs750236382, gnomAD rs750236382
- K110* (p.Lys110Ter), rs2493243250, ClinGen CA2580616864, ClinVar RCV003318180, ClinVar RCV004572922, CADD 32.00, Pathogenic
- I112M (p.Ile112Met), 1000Genomes rs548446966, ExAC rs548446966, TOPMed rs548446966, gnomAD rs548446966, REVEL 0.39, CADD 5.40, Likely benign, in AH5
- I112V (p.Ile112Val), TOPMed rs1844148161, gnomAD rs1844148161, REVEL 0.26, CADD 3.52
- A113G (p.Ala113Gly), gnomAD rs1297533084, REVEL 0.63, CADD 25.10
- A113T (p.Ala113Thr), rs550594217, ClinGen CA212294523, ClinVar RCV003331801, TOPMed rs550594217, REVEL 0.55, CADD 24.60, Uncertain significance, not specified
- F114L (p.Phe114Leu), rs774228870, ClinGen CA377940451, ClinVar RCV003545330, REVEL 0.45, CADD 6.97, Likely pathogenic, not provided
- F114V (p.Phe114Val), rs104894147, ClinGen CA115189, ClinVar RCV000001865, UniProt VAR 022747, AlphaMissense 0.94, MetaLR 0.51, Pathogenic, 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
- A115T (p.Ala115Thr), rs1278456429, ClinGen CA377940450, cosmic curated COSV64004, ClinVar RCV003067461, REVEL 0.49, CADD 23.20, Uncertain significance, not provided
- D116V (p.Asp116Val), rs104894148, ClinGen CA115190, ClinVar RCV000001866, UniProt VAR 022748, REVEL 0.62, CADD 24.80, Pathogenic, 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
- S117C (p.Ser117Cys), rs2493243189, ClinGen CA377940433, ClinVar RCV003145973, Uncertain significance, Deficiency of steroid 17-alpha-monooxygenase
- G118D (p.Gly118Asp), cosmic curated COSV10820, ExAC rs768546290, TOPMed rs768546290, gnomAD rs768546290, REVEL 0.51, CADD 15.40
- A119S (p.Ala119Ser), ExAC rs774980374, TOPMed rs774980374, gnomAD rs774980374, REVEL 0.10, CADD 7.17
- A119T (p.Ala119Thr), rs774980374, ExAC rs774980374, TOPMed rs774980374, gnomAD rs774980374, REVEL 0.19, CADD 8.15, Variant assessed as somatic; moderate impact.
- H120P (p.His120Pro), cosmic curated COSV10088, gnomAD rs1277065246, REVEL 0.13, CADD 0.19
- H120Q (p.His120Gln), gnomAD rs1396086506, REVEL 0.05, CADD 0.11
- H120Y (p.His120Tyr), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, Variant assessed as somatic; moderate impact.
- W121* (p.Trp121Ter), rs942376359, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, ClinGen CA212294483, CADD 37.00, Pathogenic, in AH5
- W121R (p.Trp121Arg), rs2493243148, ClinGen CA377940414, ClinVar RCV004527217, UniProt VAR 073044, REVEL 0.96, CADD 26.40, Uncertain significance, not specified
- W121X, rs942376359, Pathogenic
- R125* (p.Arg125Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, TOPMed rs1844147281, CADD 36.00, Variant assessed as somatic; high impact.
- R125Q (p.Arg125Gln), rs104894154, ClinGen CA115201, NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, REVEL 0.92, CADD 26.40, Pathogenic, Differences in sex development; Deficiency of steroid 17-alpha-monooxygenase; no
- L127P (p.Leu127Pro), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64005, REVEL 0.79, CADD 25.40, Variant assessed as somatic; moderate impact.
- A128E (p.Ala128Glu), ESP rs369461376, ExAC rs369461376, TOPMed rs369461376, gnomAD rs369461376, REVEL 0.51, CADD 12.30
- A128V (p.Ala128Val), cosmic curated COSV10088, ESP rs369461376, ExAC rs369461376, TOPMed rs369461376, REVEL 0.09, CADD 0.05
- M129T (p.Met129Thr), TOPMed rs1261887197, REVEL 0.15, CADD 12.80
- M129V (p.Met129Val), TOPMed rs1241825453
- A130T (p.Ala130Thr), gnomAD rs1171685818, REVEL 0.10, CADD 9.71
- A130V (p.Ala130Val), ExAC rs772285507, TOPMed rs772285507, gnomAD rs772285507, REVEL 0.29, CADD 17.30
- F135L (p.Phe135Leu), Ensembl rs2134084210, REVEL 0.51, CADD 23.60
- D137N (p.Asp137Asn), gnomAD rs1192632122, REVEL 0.34, CADD 20.80
- G138S (p.Gly138Ser), rs1485258085, ClinGen CA377940301, ClinVar RCV001106935, TOPMed rs1485258085, REVEL 0.61, CADD 24.20, Uncertain significance, Deficiency of steroid 17-alpha-monooxygenase
- G138V (p.Gly138Val), ExAC rs748494285, gnomAD rs748494285, REVEL 0.67, CADD 23.70
- D139G (p.Asp139Gly), Ensembl rs1844146256, REVEL 0.08, CADD 17.00
- D139H (p.Asp139His), ExAC rs755526392, TOPMed rs755526392, gnomAD rs755526392, Likely benign
- D139N (p.Asp139Asn), rs755526392, ClinGen CA5669575, cosmic curated COSV10528, ClinVar RCV003074305, REVEL 0.04, CADD 8.21, Conflicting interpretations, Inborn genetic diseases; not provided
- Q140* (p.Gln140Ter), rs2493243005, ClinVar RCV004575750, Likely pathogenic
- L142V (p.Leu142Val), TOPMed rs1844146211
- I145T (p.Ile145Thr), Ensembl rs1590204077, REVEL 0.26, CADD 25.40
- E149G (p.Glu149Gly), rs770597902, ClinGen CA5669551, cosmic curated COSV10592, ClinVar RCV002806036, REVEL 0.73, CADD 27.30, Uncertain significance, not provided; Inborn genetic diseases
- E149K (p.Glu149Lys), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, Variant assessed as somatic; moderate impact.
- T152I (p.Thr152Ile), cosmic curated COSV64005, TOPMed rs58822002, gnomAD rs58822002, REVEL 0.19, CADD 3.69
- T152R (p.Thr152Arg), TOPMed rs58822002, gnomAD rs58822002, REVEL 0.17, CADD 5.56
- D155N (p.Asp155Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M156T (p.Met156Thr), ExAC rs774849280, gnomAD rs774849280, REVEL 0.11, CADD 3.05
- L157M (p.Leu157Met), Ensembl rs1844140792, REVEL 0.36, CADD 22.80
- A158D (p.Ala158Asp), NCI-TCGA Cosmic COSV6400, cosmic curated COSV64004, Variant assessed as somatic; moderate impact.
- T159A (p.Thr159Ala), ExAC rs769287572, gnomAD rs769287572, REVEL 0.02, CADD 10.80
Public CYP17A1 analysis runs
- CYP17A1 analysis run — CYP17A1 (839 variants) — completed 2026-08-19