HSD3B2 (P26439) variants and mutations
HSD3B2 (also known as P26439) is a human protein-coding gene encoding a 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 protein. It catalyzes an early essential step in adrenal and gonadal steroid synthesis, converting pregnenolone and related 3-beta-hydroxysteroids into progesterone-class intermediates. Biallelic deficiency causes congenital adrenal hyperplasia with impaired cortisol and aldosterone synthesis and variable disordered sex development. This analysis covers 894 HSD3B2 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase defici, congenital adrenal hyperplasia, and adrenal gland disorder. Example HSD3B2 variants include M1L, G2D, and G2S.
Variant analysis overview
- Gene: HSD3B2
- Protein: P26439
- UniProt accession: P26439
- Organism: Homo sapiens
- Variants analyzed: 894
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 526 unspecified-consequence records; 156 missense variants; 174 synonymous variants; 4 stop-gained variants; 20 frameshift variants; 4 in-frame deletions; 1 splice-region variants; 2 in-frame insertions; 7 substitution
- Prediction scores: 827 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase defici, congenital adrenal hyperplasia, adrenal gland disorder, hereditary disease, ependymoma, Cone rod dystrophy, prostate cancer, retinitis pigmentosa, Leber congenital amaurosis, achromatopsia, Duane retraction syndrome, congenital stationary night blindness.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 binding sites.
- Structural context: 50 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable HSD3B2 variants
Examples include M1L, G2D, G2S, G2V, G2C, G2G, W3*, W3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs776656223, ClinGen CA1035855, ClinVar RCV003570783, MetaLR 0.97, MetaSVM 1.48, Pathogenic, not provided
- G2D (p.Gly2Asp), cosmic curated COSV10592, 1000Genomes rs116449508, ESP rs116449508, ExAC rs116449508, MetaLR 0.57, MetaSVM -0.25, Likely benign
- G2S (p.Gly2Ser), cosmic curated COSV10468, Ensembl rs1651675312, REVEL 0.31, MetaLR 0.59
- G2V (p.Gly2Val), rs116449508, ClinGen CA1035856, ClinVar RCV000893174, ClinVar RCV003940735, REVEL 0.52, MetaLR 0.68, Likely benign, not provided
- G2C (p.Gly2Cys), gnomAD 1-119415423-G-T, REVEL 0.46, MetaLR 0.73
- G2G (p.Gly2Gly), rs1363184896, gnomAD 1-119415425-C-T, CADD 2.44
- W3* (p.Trp3Ter), rs765335418, cosmic curated COSV65593, ClinGen CA341394018, ClinVar RCV001217332, AlphaMissense 0.59, MetaLR 0.43, Pathogenic
- W3C (p.Trp3Cys), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10102, ExAC rs765335418, gnomAD rs765335418, REVEL 0.50, AlphaMissense 0.59, Pathogenic
- W3L (p.Trp3Leu), cosmic curated COSV65593, MetaLR 0.21, MetaSVM -0.68
- W3R (p.Trp3Arg), gnomAD 1-119415426-T-A, REVEL 0.35, MetaLR 0.21
- S4G (p.Ser4Gly), TOPMed rs1271030484, gnomAD rs1271030484, REVEL 0.42, MetaLR 0.64
- S4N (p.Ser4Asn), ExAC rs773416276, TOPMed rs773416276, gnomAD rs773416276, REVEL 0.33, MetaLR 0.49
- S4R (p.Ser4Arg), TOPMed rs1271030484, gnomAD rs1271030484, REVEL 0.50, MetaLR 0.30
- S4S (p.Ser4Ser), rs928903200, gnomAD 1-119415431-C-T, CADD 9.26
- C5* (p.Cys5Ter), rs766474996, ClinGen CA1035860, ClinVar RCV001390355, ClinVar RCV001831404, CADD 35.00, Pathogenic
- C5S (p.Cys5Ser), rs376207606, ClinGen CA1035859, cosmic curated COSV65593, ClinVar RCV000391205, REVEL 0.75, MetaLR 0.58, Conflicting interpretations, not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency
- V7M (p.Val7Met), TOPMed rs999438655, gnomAD rs999438655, REVEL 0.76, MetaLR 0.89
- V7L (p.Val7Leu), gnomAD 1-119415438-G-C, REVEL 0.77, MetaLR 0.75
- V7V (p.Val7Val), gnomAD 1-119415440-G-A, CADD 7.44
- T8A (p.Thr8Ala), rs1651676376, ClinGen CA341394045, ClinVar RCV004404527, AlphaMissense 0.72, MetaLR 0.93, Uncertain significance, Inborn genetic diseases
- T8P (p.Thr8Pro), TOPMed rs1651676376, gnomAD rs1651676376, REVEL 0.84, AlphaMissense 0.72
- G9E (p.Gly9Glu), cosmic curated COSV10529, MetaLR 1.00, MetaSVM 0.90
- G9G (p.Gly9Gly), gnomAD 1-119415446-A-C, CADD 8.42
- A10E (p.Ala10Glu), rs28934880, ClinGen CA121927, ClinVar RCV000012971, UniProt VAR 010517, REVEL 0.84, MetaLR 0.79, Likely pathogenic, 3 beta-Hydroxysteroid dehydrogenase deficiency
- A10S (p.Ala10Ser), ExAC rs755248657, gnomAD rs755248657, REVEL 0.60, MetaLR 0.71
- A10V (p.Ala10Val), rs28934880, UniProt VAR 010518, TOPMed rs28934880, gnomAD rs28934880, REVEL 0.83, MetaLR 0.79, Pathogenic, in AH2
- A10A (p.Ala10Ala), gnomAD 1-119415449-A-C, CADD 8.46
- G11E (p.Gly11Glu), cosmic curated COSV65594, gnomAD rs1242144643, MetaLR 0.79, MetaSVM 0.73
- G11G (p.Gly11Gly), rs767881300, gnomAD 1-119415452-A-G, CADD 13.80
- G12E (p.Gly12Glu), rs756607591, ClinGen CA1035865, ClinVar RCV002045814, ClinVar RCV005008420, REVEL 0.96, MetaLR 0.98, Pathogenic, not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency; Congenital adrenal
- G12R (p.Gly12Arg), ExAC rs753134237, TOPMed rs753134237, gnomAD rs753134237, cosmic curated COSV65594, REVEL 0.95, MetaLR 0.98
- G12A (p.Gly12Ala), gnomAD 1-119415454-G-C, REVEL 0.95, MetaLR 0.97
- G12G (p.Gly12Gly), rs778303029, gnomAD 1-119415455-G-A, CADD 5.89
- L13I (p.Leu13Ile), cosmic curated COSV10746, MetaLR 0.17, MetaSVM -0.92
- L14P (p.Leu14Pro), rs1386322027, ClinGen CA341394079, ClinVar RCV004404530, gnomAD rs1386322027, REVEL 0.87, MetaLR 0.79, Uncertain significance, Inborn genetic diseases
- L14Q (p.Leu14Gln), NCI-TCGA TCGA novel, MetaLR 0.82, MetaSVM 0.81, Variant assessed as somatic; moderate impact.
- L14V (p.Leu14Val), ESP rs377504860, ExAC rs377504860, gnomAD rs377504860, REVEL 0.43, MetaLR 0.40
- G15D (p.Gly15Asp), UniProt VAR 010519, Pathogenic, in AH2
- G15R (p.Gly15Arg), Ensembl rs1651677390, MetaLR 0.99, MetaSVM 0.98
- Q16R (p.Gln16Arg), NCI-TCGA TCGA novel, MetaLR 0.28, MetaSVM -0.80, Variant assessed as somatic; moderate impact.
- Q16* (p.Gln16Ter), gnomAD 1-119415465-C-T, CADD 35.00
- Q16K (p.Gln16Lys), gnomAD 1-119415465-C-A, REVEL 0.18, MetaLR 0.34
- R17K (p.Arg17Lys), cosmic curated COSV65592, REVEL 0.62, MetaLR 0.62
- R17M (p.Arg17Met), Ensembl rs748554689
- R17R (p.Arg17Arg), rs757957605, gnomAD 1-119415470-G-A, CADD 9.15
- I18F (p.Ile18Phe), TOPMed rs1424716651, MetaLR 0.73, MetaSVM 0.56
- I18T (p.Ile18Thr), gnomAD 1-119415472-T-C, REVEL 0.74, MetaLR 0.80
- I18I (p.Ile18Ile), rs777605448, gnomAD 1-119415473-C-A, CADD 6.17
- V19A (p.Val19Ala), cosmic curated COSV10746, 1000Genomes rs115344376, ExAC rs115344376, gnomAD rs115344376, REVEL 0.56, MetaLR 0.68
- V19I (p.Val19Ile), rs143169543, cosmic curated COSV10102, 1000Genomes rs143169543, ESP rs143169543, REVEL 0.14, MetaLR 0.20, Conflicting interpretations, Inborn genetic diseases; 3 beta-Hydroxysteroid dehydrogenase deficiency
- R20C (p.Arg20Cys), rs139191056, ESP rs139191056, ExAC rs139191056, TOPMed rs139191056, REVEL 0.26, MetaLR 0.29, Uncertain significance, 3 beta-Hydroxysteroid dehydrogenase deficiency
- R20G (p.Arg20Gly), ESP rs139191056, ExAC rs139191056, TOPMed rs139191056, gnomAD rs139191056, MetaLR 0.52, MetaSVM -0.28, Uncertain significance
- R20H (p.Arg20His), ExAC rs748018110, TOPMed rs748018110, gnomAD rs748018110, REVEL 0.20, MetaLR 0.26
- R20S (p.Arg20Ser), gnomAD 1-119415477-C-A, REVEL 0.35, MetaLR 0.35
- R20P (p.Arg20Pro), gnomAD 1-119415478-G-C, REVEL 0.59, MetaLR 0.57
- R20R (p.Arg20Arg), rs769828729, gnomAD 1-119415479-C-G, CADD 4.03
- L21L (p.Leu21Leu), gnomAD 1-119415482-G-T, CADD 0.30
- L22W (p.Leu22Trp), gnomAD rs1331864909, REVEL 0.77, MetaLR 0.90
- L22F (p.Leu22Phe), rs1266831898, gnomAD 1-119415482-G-GT, CADD 15.60
- V23A (p.Val23Ala), TOPMed rs1651678521, REVEL 0.15, MetaLR 0.19
- V23M (p.Val23Met), ExAC rs773237182, TOPMed rs773237182, gnomAD rs773237182, REVEL 0.40, MetaLR 0.40
- E24G (p.Glu24Gly), Ensembl rs1570816667
- E24K (p.Glu24Lys), NCI-TCGA Cosmic COSV6559, cosmic curated COSV65592, MetaLR 0.29, MetaSVM -0.91, Variant assessed as somatic; moderate impact.
- E25Q (p.Glu25Gln), NCI-TCGA Cosmic COSV6559, cosmic curated COSV65593, MetaLR 0.70, MetaSVM 0.41, Variant assessed as somatic; moderate impact.
- K26* (p.Lys26Ter), rs2526373039, ClinGen CA341394151, ClinVar RCV003704840, Pathogenic
- K26N (p.Lys26Asn), ExAC rs762899067, gnomAD rs762899067, REVEL 0.42, MetaLR 0.45
- K26E (p.Lys26Glu), gnomAD 1-119415495-A-G, REVEL 0.21, MetaLR 0.14
- E27K (p.Glu27Lys), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10102, Ensembl rs1651678724, MetaLR 0.60, MetaSVM -0.12, Variant assessed as somatic; moderate impact.
- E27E (p.Glu27Glu), gnomAD 1-119415500-A-G, CADD 0.15
- L28M (p.Leu28Met), gnomAD rs1222171282, REVEL 0.42, MetaLR 0.71
- L28P (p.Leu28Pro), gnomAD 1-119415502-T-C, REVEL 0.57, MetaLR 0.73
- K29K (p.Lys29Lys), gnomAD 1-119415506-G-A, CADD 5.64
- E30D (p.Glu30Asp), cosmic curated COSV65592, TOPMed rs991767036
- E30K (p.Glu30Lys), cosmic curated COSV10821, Ensembl rs753777808, MetaLR 0.69, MetaSVM 0.44
- E30del (p.Glu30del), rs1441281761, gnomAD 1-119415504-AAGG-, CADD 16.30
- I31I (p.Ile31Ile), gnomAD 1-119415512-C-T, CADD 7.09
- R32S (p.Arg32Ser), ExAC rs771061890, TOPMed rs771061890, gnomAD rs771061890, Likely benign
- R32K (p.Arg32Lys), gnomAD 1-119415514-G-A, REVEL 0.71, MetaLR 0.82
- R32R (p.Arg32Arg), rs771061890, gnomAD 1-119415515-G-A, CADD 3.70
- A33S (p.Ala33Ser), ExAC rs774377636, gnomAD rs774377636, REVEL 0.24, MetaLR 0.50
- A33V (p.Ala33Val), cosmic curated COSV65594, MetaLR 0.15, MetaSVM -0.81
- A33P (p.Ala33Pro), gnomAD 1-119415516-G-C, REVEL 0.62, MetaLR 0.65
- A33A (p.Ala33Ala), rs1360211950, gnomAD 1-119415518-C-T, CADD 2.50
- L34W (p.Leu34Trp), gnomAD 1-119415516-GC-G, CADD 14.30
- L34L (p.Leu34Leu), gnomAD 1-119415519-T-C, CADD 7.29
- D35N (p.Asp35Asn), NCI-TCGA Cosmic COSV6559, cosmic curated COSV65592, gnomAD rs1651679611, REVEL 0.73, MetaLR 0.84, Variant assessed as somatic; moderate impact.
- A37G (p.Ala37Gly), ExAC rs767793086, TOPMed rs767793086, gnomAD rs767793086, REVEL 0.33, MetaLR 0.35
- A37T (p.Ala37Thr), ExAC rs759756499, gnomAD rs759756499, REVEL 0.23, MetaLR 0.17
- A37A (p.Ala37Ala), rs1651679921, gnomAD 1-119415530-C-T, CADD 5.19
- F38S (p.Phe38Ser), gnomAD 1-119415528-GC-G, CADD 16.10
- F38F (p.Phe38Phe), rs753046362, gnomAD 1-119415533-C-T, CADD 8.35
- R39T (p.Arg39Thr), rs761068679, NCI-TCGA Cosmic COSV1010, cosmic curated COSV10102, ExAC rs761068679, REVEL 0.16, MetaLR 0.18, Variant assessed as somatic; moderate impact.
- P40A (p.Pro40Ala), gnomAD 1-119415537-C-G, REVEL 0.28, MetaLR 0.50
- P40Q (p.Pro40Gln), gnomAD 1-119415538-C-A, REVEL 0.36, MetaLR 0.63
- P40P (p.Pro40Pro), gnomAD 1-119415539-A-G, CADD 2.34
- E41* (p.Glu41Ter), NCI-TCGA Cosmic COSV6559, cosmic curated COSV65593, Variant assessed as somatic; high impact.
- E41K (p.Glu41Lys), NCI-TCGA Cosmic COSV6559, cosmic curated COSV65593, MetaLR 0.23, MetaSVM -0.86, Variant assessed as somatic; moderate impact.
- E41V (p.Glu41Val), TOPMed rs1651680292, gnomAD rs1651680292, REVEL 0.31, MetaLR 0.59
- E41Q (p.Glu41Gln), gnomAD 1-119415540-G-C, REVEL 0.12, MetaLR 0.23
- L42L (p.Leu42Leu), rs370732845, gnomAD 1-119415543-T-C, CADD 0.24
- L42W (p.Leu42Trp), gnomAD 1-119415544-T-G, REVEL 0.26, MetaLR 0.68
- R43G (p.Arg43Gly), ESP rs374785266, ExAC rs374785266, TOPMed rs374785266, gnomAD rs374785266, REVEL 0.43, MetaLR 0.54, Uncertain significance, 3 beta-Hydroxysteroid dehydrogenase deficiency
- R43R (p.Arg43Arg), rs374785266, gnomAD 1-119415546-A-C, CADD 5.37
- E44D (p.Glu44Asp), 1000Genomes rs111333222, ESP rs111333222, ExAC rs111333222, TOPMed rs111333222, REVEL 0.28, MetaLR 0.37, Conflicting interpretations, 3 beta-Hydroxysteroid dehydrogenase deficiency; not provided
- E44G (p.Glu44Gly), rs760846678, gnomAD 1-119415544-TGA-T, CADD 21.20
- E44K (p.Glu44Lys), gnomAD 1-119415549-G-A, REVEL 0.31, MetaLR 0.30
- E44Q (p.Glu44Gln), gnomAD 1-119415549-G-C, REVEL 0.32, MetaLR 0.45
- E45* (p.Glu45Ter), rs2526373514, ClinGen CA341394279, ClinVar RCV003549216, Pathogenic
- E45K (p.Glu45Lys), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10102, MetaLR 0.34, MetaSVM -0.68, Variant assessed as somatic; moderate impact.
- E45Q (p.Glu45Gln), gnomAD 1-119415552-G-C, REVEL 0.29, MetaLR 0.38
- F46Y (p.Phe46Tyr), gnomAD 1-119415556-T-A, REVEL 0.44, MetaLR 0.55
- S47F (p.Ser47Phe), cosmic curated COSV10652, Ensembl rs1651682347
- S47S (p.Ser47Ser), gnomAD 1-119415560-T-C, CADD 6.39
- K48E (p.Lys48Glu), gnomAD 1-119415561-A-G, REVEL 0.22, MetaLR 0.16
- L49F (p.Leu49Phe), ExAC rs780947714, gnomAD rs780947714, REVEL 0.14, MetaLR 0.16
- L49I (p.Leu49Ile), ExAC rs780947714, gnomAD rs780947714, REVEL 0.27, MetaLR 0.31
- L49P (p.Leu49Pro), gnomAD 1-119419421-T-C, REVEL 0.49, MetaLR 0.45
- L49L (p.Leu49Leu), rs752417564, gnomAD 1-119419422-C-G, CADD 1.41, SIFT 0.39
- Q50E (p.Gln50Glu), TOPMed rs1408216421
- Q50H (p.Gln50His), TOPMed rs1329835742, gnomAD rs1329835742, REVEL 0.38, MetaLR 0.57, Likely benign
- Q50L (p.Gln50Leu), ExAC rs755912072
- Q50R (p.Gln50Arg), ExAC rs755912072, MetaLR 0.22, MetaSVM -0.90
- Q50* (p.Gln50Ter), gnomAD 1-119419423-C-T, CADD 33.00, SIFT 0.14
- Q50Q (p.Gln50Gln), rs1329835742, gnomAD 1-119419425-G-A, CADD 3.70, SIFT 1.00
- N51D (p.Asn51Asp), gnomAD rs1237083842, REVEL 0.10, MetaLR 0.13
- N51K (p.Asn51Lys), gnomAD 1-119419428-C-G, REVEL 0.18, MetaLR 0.09
- N51N (p.Asn51Asn), gnomAD 1-119419428-C-T, CADD 1.04
- R52K (p.Arg52Lys), cosmic curated COSV65593
- R52G (p.Arg52Gly), gnomAD 1-119419429-A-G, REVEL 0.14, MetaLR 0.16
- T53I (p.Thr53Ile), gnomAD 1-119419433-C-T, REVEL 0.14, MetaLR 0.19
- T53N (p.Thr53Asn), gnomAD 1-119419433-C-A, REVEL 0.26, MetaLR 0.50
- T53T (p.Thr53Thr), rs1570819751, gnomAD 1-119419434-C-G, CADD 2.68, SIFT 0.09
- K54E (p.Lys54Glu), ESP rs372260820, ExAC rs372260820, TOPMed rs372260820, REVEL 0.42, MetaLR 0.63
- L55L (p.Leu55Leu), gnomAD 1-119419438-C-T, CADD 4.13, SIFT 0.09
- T56N (p.Thr56Asn), cosmic curated COSV65592, MetaLR 0.67, MetaSVM -0.05
- T56P (p.Thr56Pro), gnomAD 1-119419441-A-C, REVEL 0.62, MetaLR 0.78
- V57A (p.Val57Ala), gnomAD rs1347889459, REVEL 0.39, MetaLR 0.44
- V57G (p.Val57Gly), gnomAD 1-119419445-T-G, REVEL 0.65, MetaLR 0.73
- V57V (p.Val57Val), rs1227287596, gnomAD 1-119419446-A-G, CADD 2.80, SIFT 0.00
- L58F (p.Leu58Phe), TOPMed rs996018890, gnomAD rs996018890, REVEL 0.19, MetaLR 0.28, Uncertain significance, Inborn genetic diseases
- L58P (p.Leu58Pro), TOPMed rs1393706800, gnomAD rs1393706800, REVEL 0.82, MetaLR 0.77
- L58I (p.Leu58Ile), gnomAD 1-119419447-C-A, REVEL 0.17, MetaLR 0.20
- E59G (p.Glu59Gly), gnomAD 1-119419451-A-G, REVEL 0.62, MetaLR 0.70
- G60E (p.Gly60Glu), ESP rs141499927, ExAC rs141499927, TOPMed rs141499927, gnomAD rs141499927, REVEL 0.93, MetaLR 0.84
- D61H (p.Asp61His), NCI-TCGA Cosmic COSV6559, cosmic curated COSV65593, MetaLR 0.96, MetaSVM 1.09, Variant assessed as somatic; moderate impact.
- D61T (p.Asp61Thr), gnomAD 1-119419454-GA-G, CADD 19.10
- D61N (p.Asp61Asn), gnomAD 1-119419456-G-A, REVEL 0.83, MetaLR 0.92
- I62F (p.Ile62Phe), gnomAD 1-119419459-A-T, REVEL 0.75, MetaLR 0.74
- L63V (p.Leu63Val), gnomAD rs1341258016, REVEL 0.45, MetaLR 0.74
- L63M (p.Leu63Met), gnomAD 1-119419462-C-A, REVEL 0.48, MetaLR 0.75
- D64N (p.Asp64Asn), gnomAD 1-119419465-G-A, REVEL 0.66, MetaLR 0.81
- D64G (p.Asp64Gly), gnomAD 1-119419466-A-G, REVEL 0.88, MetaLR 0.90
- D64D (p.Asp64Asp), gnomAD 1-119419467-T-C, CADD 5.27
- E65K (p.Glu65Lys), gnomAD 1-119419468-G-A, REVEL 0.24, MetaLR 0.20
- E65D (p.Glu65Asp), gnomAD 1-119419470-G-T, REVEL 0.17, MetaLR 0.25
- P66L (p.Pro66Leu), ExAC rs778763649, TOPMed rs778763649, gnomAD rs778763649, REVEL 0.14, MetaLR 0.26
- P66S (p.Pro66Ser), TOPMed rs1651800082, MetaLR 0.14, MetaSVM -0.91
- P66P (p.Pro66Pro), gnomAD 1-119419473-A-T, CADD 4.27
- F67S (p.Phe67Ser), Ensembl rs1651800315, MetaLR 0.41, MetaSVM -0.50
- F67L (p.Phe67Leu), gnomAD 1-119419474-T-C, REVEL 0.17, MetaLR 0.23
- F67F (p.Phe67Phe), rs1425113240, gnomAD 1-119419476-C-T, CADD 3.44
- L68M (p.Leu68Met), ESP rs138340684, TOPMed rs138340684, REVEL 0.39, MetaLR 0.52
- L68L (p.Leu68Leu), gnomAD 1-119419477-C-T, CADD 1.18
- K69E (p.Lys69Glu), gnomAD 1-119419480-A-G, REVEL 0.15, MetaLR 0.20
- K69K (p.Lys69Lys), rs375679388, gnomAD 1-119419482-A-G, CADD 3.14
- K69R (p.Lys69Arg), rs772162284, []
- R70K (p.Arg70Lys), ExAC rs772162284, gnomAD rs772162284, REVEL 0.20, MetaLR 0.20
- R70T (p.Arg70Thr), ExAC rs772162284, gnomAD rs772162284
- A71S (p.Ala71Ser), NCI-TCGA Cosmic COSV6559, Variant assessed as somatic; moderate impact.
- A71T (p.Ala71Thr), cosmic curated COSV65593, MetaLR 0.86, MetaSVM 0.96
- A71P (p.Ala71Pro), gnomAD 1-119419486-G-C, REVEL 0.76, MetaLR 0.89
- A71A (p.Ala71Ala), rs775633331, gnomAD 1-119419488-C-T, CADD 5.59
- C72* (p.Cys72Ter), rs2101343665, ClinGen CA341395069, ClinVar RCV001992690, Ensembl rs2101343665, Pathogenic
- C72F (p.Cys72Phe), rs747237944, NCI-TCGA Cosmic COSV6559, cosmic curated COSV65593, ExAC rs747237944, AlphaMissense 0.80, MetaLR 0.82, Variant assessed as somatic; moderate impact.
- C72S (p.Cys72Ser), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10102, REVEL 0.81, MetaLR 0.76, Variant assessed as somatic; moderate impact.
- C72W (p.Cys72Trp), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10102, MetaLR 0.79, MetaSVM 0.50, Variant assessed as somatic; moderate impact.
- C72Y (p.Cys72Tyr), ExAC rs747237944, TOPMed rs747237944, gnomAD rs747237944, REVEL 0.79, AlphaMissense 0.80
- Q73H (p.Gln73His), NCI-TCGA Cosmic COSV6559, cosmic curated COSV65593, MetaLR 0.77, MetaSVM 0.64, Variant assessed as somatic; moderate impact.
- D74N (p.Asp74Asn), rs4986954, ClinGen CA1035919, ClinVar RCV000894295, ClinVar RCV001100605, REVEL 0.38, MetaLR 0.49, Benign/Likely benign, not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency
- D74G (p.Asp74Gly), gnomAD 1-119419496-A-G, REVEL 0.35, MetaLR 0.06
Public HSD3B2 analysis runs
- HSD3B2 analysis run — HSD3B2 (894 variants) — completed 2026-08-19