UGT2B7 (UDP-glucuronosyltransferase 2B7) variants and mutations
UGT2B7 (also known as UDP-glucuronosyltransferase 2B7) is a human protein-coding gene encoding an UDP-glucuronosyltransferase 2B7 protein. It conjugates glucuronic acid to many drugs and endogenous compounds, including opioids, bile acids, and steroid metabolites, increasing their solubility and elimination. Genetic and physiologic variation can alter clearance of important substrates, although effects are often smaller than for major high-impact pharmacogenes. This analysis covers 1,151 UGT2B7 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes response to tramadol, vitamin D deficiency, and COVID-19. Example UGT2B7 variants include S2P, S2Y, and S2T.
Variant analysis overview
- Gene: UGT2B7
- Protein: UDP-glucuronosyltransferase 2B7
- UniProt accession: P16662
- Organism: Homo sapiens
- Variants analyzed: 1151
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 816 unspecified-consequence records; 161 missense variants; 128 synonymous variants; 29 frameshift variants; 10 stop-gained variants; 1 protein altering variant; 1 in-frame deletions; 3 splice-region variants; 2 substitution
- Prediction scores: 1,083 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: response to tramadol, vitamin D deficiency, COVID-19, retinitis pigmentosa, Progressive cone dystrophy, Cone rod dystrophy, central areolar choroidal dystrophy, Leber congenital amaurosis, Familial exudative vitreoretinopathy, colorectal carcinoma, Familial drusen, Juvenile glaucoma.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 binding sites; 3 post-translational modification sites.
- Structural context: 20 variants have structural context.
- PTM context: 3 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, MaveDB, LitVar.
Notable UGT2B7 variants
Examples include S2P, S2Y, S2T, S2S, V3A, V3M, V3L, V3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2P (p.Ser2Pro), TOPMed rs1454696412, gnomAD rs1454696412, REVEL 0.02, MetaLR 0.11
- S2Y (p.Ser2Tyr), gnomAD rs1719231203, REVEL 0.07, MetaLR 0.24
- S2T (p.Ser2Thr), gnomAD 4-69096524-T-A, REVEL 0.02, MetaLR 0.13
- S2S (p.Ser2Ser), gnomAD 4-69096526-T-C, CADD 5.66
- V3A (p.Val3Ala), NCI-TCGA Cosmic COSV5944, cosmic curated COSV59445, MetaLR 0.14, MetaSVM -1.07, Variant assessed as somatic; moderate impact.
- V3M (p.Val3Met), TOPMed rs1719231396, REVEL 0.02, MetaLR 0.08, Uncertain significance, not specified
- V3L (p.Val3Leu), gnomAD 4-69096527-G-C, REVEL 0.02, MetaLR 0.08
- V3V (p.Val3Val), rs1719231478, gnomAD 4-69096529-G-T, CADD 1.41
- K4E (p.Lys4Glu), TOPMed rs1404170117, gnomAD rs1404170117, REVEL 0.06, MetaLR 0.18
- K4T (p.Lys4Thr), TOPMed rs1719231675, REVEL 0.17, MetaLR 0.30
- W5* (p.Trp5Ter), rs754985186, TOPMed rs754985186, gnomAD rs754985186, CADD 34.00, Variant assessed as somatic; high impact.
- T6S (p.Thr6Ser), TOPMed rs1719231880, REVEL 0.01, MetaLR 0.14, Uncertain significance, not specified
- T6A (p.Thr6Ala), gnomAD 4-69096536-A-G, REVEL 0.03, MetaLR 0.15
- S7L (p.Ser7Leu), gnomAD 4-69096540-C-T, REVEL 0.08, MetaLR 0.13
- V8L (p.Val8Leu), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10053, MetaLR 0.10, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- L10* (p.Leu10Ter), ExAC rs759026515, gnomAD rs759026515
- L10S (p.Leu10Ser), ExAC rs759026515, gnomAD rs759026515, REVEL 0.25, MetaLR 0.39
- L10L (p.Leu10Leu), rs1458035928, gnomAD 4-69096550-G-A, CADD 0.82
- L11L (p.Leu11Leu), rs1719232289, gnomAD 4-69096553-A-G, CADD 0.62
- I12K (p.Ile12Lys), TOPMed rs1367730176, gnomAD rs1367730176
- I12T (p.Ile12Thr), TOPMed rs1367730176, gnomAD rs1367730176, MetaLR 0.15, MetaSVM -0.98
- Q13* (p.Gln13Ter), rs1157290351, ClinGen CA357095104, ClinVar RCV001028165, TOPMed rs1157290351, CADD 32.00, Drug response
- Q13L (p.Gln13Leu), gnomAD rs1160972059, MetaLR 0.12, MetaSVM -0.99
- Q13N (p.Gln13Asn), rs1471670505, gnomAD 4-69096556-AC-A, CADD 15.50
- Q13P (p.Gln13Pro), gnomAD 4-69096558-A-C, REVEL 0.19, MetaLR 0.36
- L14M (p.Leu14Met), TOPMed rs1412192907, gnomAD rs1412192907, REVEL 0.10, MetaLR 0.42, Drug response
- L14R (p.Leu14Arg), gnomAD 4-69096561-T-G, REVEL 0.27, MetaLR 0.46
- L14L (p.Leu14Leu), gnomAD 4-69096562-G-C, CADD 1.37
- S15N (p.Ser15Asn), rs1577920737, ClinGen CA357095119, ClinVar RCV001028163, Ensembl rs1577920737, REVEL 0.05, MetaLR 0.13, drug response, Tramadol response
- S15R (p.Ser15Arg), TOPMed rs1369589412, gnomAD rs1369589412, REVEL 0.16, MetaLR 0.23
- S15T (p.Ser15Thr), NCI-TCGA TCGA novel, MetaLR 0.12, MetaSVM -1.01, Variant assessed as somatic; moderate impact.
- F16I (p.Phe16Ile), rs1560508238, NCI-TCGA Cosmic COSV5944, cosmic curated COSV59444, Ensembl rs1560508238, Variant assessed as somatic; moderate impact.
- F16L (p.Phe16Leu), Ensembl rs1560508238, NCI-TCGA TCGA novel, MetaLR 0.07, MetaSVM -1.04, Variant assessed as somatic; high impact.
- C17* (p.Cys17Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- C17G (p.Cys17Gly), gnomAD 4-69096569-T-G, REVEL 0.06, MetaLR 0.12
- C17Y (p.Cys17Tyr), gnomAD 4-69096570-G-A, REVEL 0.09, MetaLR 0.06
- F18V (p.Phe18Val), ExAC rs764911821, TOPMed rs764911821, gnomAD rs764911821, REVEL 0.03, MetaLR 0.15
- F18F (p.Phe18Phe), gnomAD 4-69096574-T-C, CADD 0.94
- S19* (p.Ser19Ter), rs1183643062, gnomAD 4-69096571-C-CT, CADD 14.20
- S19I (p.Ser19Ile), gnomAD 4-69096574-T-TATA, CADD 14.10
- S19S (p.Ser19Ser), rs752289105, gnomAD 4-69096577-C-T, CADD 2.35
- S20F (p.Ser20Phe), rs1403703291, ClinGen CA357095160, ClinVar RCV001028161, TOPMed rs1403703291, REVEL 0.10, MetaLR 0.14, drug response, Tramadol response
- S20P (p.Ser20Pro), Ensembl rs2109882855, REVEL 0.02, MetaLR 0.11
- S20T (p.Ser20Thr), gnomAD 4-69096578-T-A, REVEL 0.02, MetaLR 0.18
- S20C (p.Ser20Cys), gnomAD 4-69096579-C-G, REVEL 0.09, MetaLR 0.14
- S20S (p.Ser20Ser), rs1398352870, gnomAD 4-69096580-T-C, CADD 3.85
- G21R (p.Gly21Arg), Ensembl rs1719233800, REVEL 0.21, MetaLR 0.35
- G21V (p.Gly21Val), NCI-TCGA Cosmic COSV5944, MetaLR 0.16, MetaSVM -0.97, Variant assessed as somatic; moderate impact.
- G21A (p.Gly21Ala), gnomAD 4-69096582-G-C, REVEL 0.04, MetaLR 0.10
- N22S (p.Asn22Ser), gnomAD 4-69096585-A-G, REVEL 0.05, MetaLR 0.05
- N22N (p.Asn22Asn), rs1719233880, gnomAD 4-69096586-T-C, CADD 0.47
- C23G (p.Cys23Gly), TOPMed rs1719233966, MetaLR 0.08, MetaSVM -1.06
- C23Y (p.Cys23Tyr), ExAC rs758225308, gnomAD rs758225308, REVEL 0.18, MetaLR 0.37
- G24E (p.Gly24Glu), Ensembl rs997215331
- G24R (p.Gly24Arg), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10053, MetaLR 0.48, MetaSVM 0.26, Variant assessed as somatic; moderate impact.
- K25N (p.Lys25Asn), ExAC rs777362846, gnomAD rs777362846, REVEL 0.13, MetaLR 0.21
- K25R (p.Lys25Arg), 1000Genomes rs200799009, REVEL 0.34, MetaLR 0.35
- K25T (p.Lys25Thr), gnomAD 4-69096594-A-C, REVEL 0.31, MetaLR 0.49
- K25K (p.Lys25Lys), rs777362846, gnomAD 4-69096595-G-A, CADD 4.15
- V26L (p.Val26Leu), Ensembl rs1719234527, REVEL 0.16, MetaLR 0.25
- V26M (p.Val26Met), gnomAD 4-69096596-G-A, REVEL 0.31, MetaLR 0.47
- V26V (p.Val26Val), gnomAD 4-69096598-G-T, CADD 6.72
- L27M (p.Leu27Met), ExAC rs751545826, TOPMed rs751545826, gnomAD rs751545826, REVEL 0.33, MetaLR 0.58
- L27P (p.Leu27Pro), TOPMed rs899572997, gnomAD rs899572997, REVEL 0.62, MetaLR 0.63
- L27L (p.Leu27Leu), rs751545826, gnomAD 4-69096599-C-T, CADD 7.13
- V28L (p.Val28Leu), TOPMed rs1719234837, MetaLR 0.26, MetaSVM -0.81
- V28V (p.Val28Val), rs757210744, gnomAD 4-69096604-G-A, CADD 6.83
- W29R (p.Trp29Arg), gnomAD 4-69096605-T-C, REVEL 0.28, MetaLR 0.44
- A31G (p.Ala31Gly), gnomAD rs1228010081, REVEL 0.07, MetaLR 0.08
- A31V (p.Ala31Val), NCI-TCGA Cosmic COSV5944, cosmic curated COSV59443, MetaLR 0.07, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- E32D (p.Glu32Asp), Ensembl rs1719235168, MetaLR 0.10, MetaSVM -1.01
- E32G (p.Glu32Gly), gnomAD 4-69096615-A-G, REVEL 0.30, MetaLR 0.26
- Y33C (p.Tyr33Cys), gnomAD rs1266379801, REVEL 0.20, MetaLR 0.35
- S34R (p.Ser34Arg), Ensembl rs1478370369, MetaLR 0.60, MetaSVM 0.42
- S34A (p.Ser34Ala), gnomAD 4-69096619-CA-C, CADD 22.60
- S34G (p.Ser34Gly), gnomAD 4-69096620-A-G, REVEL 0.33, MetaLR 0.37
- H35N (p.His35Asn), NCI-TCGA TCGA novel, MetaLR 0.69, MetaSVM 0.35, Variant assessed as somatic; moderate impact.
- H35Y (p.His35Tyr), gnomAD 4-69096623-C-T, REVEL 0.50, MetaLR 0.69
- H35H (p.His35His), gnomAD 4-69096625-T-C, CADD 0.44
- W36* (p.Trp36Ter), ExAC rs202055250, TOPMed rs202055250, gnomAD rs202055250, CADD 36.00
- W36R (p.Trp36Arg), gnomAD rs1484265227, REVEL 0.32, MetaLR 0.44
- W36S (p.Trp36Ser), gnomAD 4-69096627-G-C, REVEL 0.44, MetaLR 0.51
- W36C (p.Trp36Cys), gnomAD 4-69096628-G-T, REVEL 0.45, MetaLR 0.54
- M37I (p.Met37Ile), rs1255338508, ClinGen CA357095276, NCI-TCGA Cosmic COSV5944, cosmic curated COSV59442, drug response, Tramadol response
- M37V (p.Met37Val), gnomAD 4-69096629-A-G, REVEL 0.05, MetaLR 0.12
- M37K (p.Met37Lys), gnomAD 4-69096630-T-A, REVEL 0.24, MetaLR 0.33
- N38S (p.Asn38Ser), gnomAD 4-69096633-A-G, REVEL 0.19, MetaLR 0.25
- I39R (p.Ile39Arg), rs1577920799, ClinGen CA357095292, ClinVar RCV001028159, Ensembl rs1577920799, drug response, Tramadol response
- I39V (p.Ile39Val), Ensembl rs1719235717, MetaLR 0.09, MetaSVM -1.06
- I39L (p.Ile39Leu), gnomAD 4-69096635-A-T, REVEL 0.03, MetaLR 0.06
- I39T (p.Ile39Thr), gnomAD 4-69096636-T-C, REVEL 0.23, MetaLR 0.23
- K40E (p.Lys40Glu), ExAC rs749415280, TOPMed rs749415280, MetaLR 0.34, MetaSVM -0.70
- K40N (p.Lys40Asn), NCI-TCGA TCGA novel, REVEL 0.14, MetaLR 0.29, Variant assessed as somatic; moderate impact.
- K40Q (p.Lys40Gln), gnomAD 4-69096638-A-C, REVEL 0.19, MetaLR 0.28
- K40R (p.Lys40Arg), gnomAD 4-69096639-A-G, REVEL 0.17, MetaLR 0.18
- K40K (p.Lys40Lys), rs1182597170, gnomAD 4-69096640-G-A, CADD 3.07
- T41I (p.Thr41Ile), ExAC rs58632287, TOPMed rs58632287, gnomAD rs58632287, REVEL 0.05, MetaLR 0.12
- T41K (p.Thr41Lys), NCI-TCGA TCGA novel, REVEL 0.06, MetaLR 0.15, Variant assessed as somatic; moderate impact.
- T41T (p.Thr41Thr), gnomAD 4-69096643-A-C, CADD 0.31
- I42T (p.Ile42Thr), rs1577920813, ClinGen CA357095309, ClinVar RCV001028158, Ensembl rs1577920813, drug response, Tramadol response
- I42V (p.Ile42Val), rs569411321, NCI-TCGA Cosmic COSV5944, cosmic curated COSV59441, 1000Genomes rs569411321, REVEL 0.07, MetaLR 0.17, Variant assessed as somatic; moderate impact.
- I42I (p.Ile42Ile), gnomAD 4-69096646-C-T, CADD 0.69
- L43V (p.Leu43Val), Ensembl rs770659742, MetaLR 0.19, MetaSVM -0.89
- D44E (p.Asp44Glu), TOPMed rs1412265400, gnomAD rs1412265400, REVEL 0.06, MetaLR 0.06
- D44G (p.Asp44Gly), NCI-TCGA Cosmic COSV5944, cosmic curated COSV59442, REVEL 0.24, MetaLR 0.35, Variant assessed as somatic; moderate impact.
- D44N (p.Asp44Asn), rs1577920819, ClinGen CA357095316, ClinVar RCV001028157, Ensembl rs1577920819, REVEL 0.12, MetaLR 0.24, drug response, Tramadol response
- D44H (p.Asp44His), gnomAD 4-69096650-G-C, REVEL 0.15, MetaLR 0.23
- D44Y (p.Asp44Tyr), gnomAD 4-69096650-G-T, REVEL 0.19, MetaLR 0.19
- E45D (p.Glu45Asp), ESP rs373225477, ExAC rs373225477, TOPMed rs373225477, gnomAD rs373225477, REVEL 0.22, MetaLR 0.43
- E45E (p.Glu45Glu), rs373225477, gnomAD 4-69096655-G-A, CADD 1.00
- L46F (p.Leu46Phe), cosmic curated COSV59442, gnomAD rs1156473639, REVEL 0.58, MetaLR 0.80
- L46P (p.Leu46Pro), rs61361928, ClinGen CA2944517, cosmic curated COSV10053, ClinVar RCV000891815, REVEL 0.51, MetaLR 0.81, Likely benign, not provided
- I47F (p.Ile47Phe), Ensembl rs2109882963, MetaLR 0.26, MetaSVM -0.74
- R49G (p.Arg49Gly), ESP rs148671766, ExAC rs148671766, gnomAD rs148671766, REVEL 0.29, MetaLR 0.50, Uncertain significance, not specified
- R49T (p.Arg49Thr), gnomAD rs1402048109, REVEL 0.24, MetaLR 0.54
- G50A (p.Gly50Ala), ExAC rs771477682, gnomAD rs771477682, REVEL 0.55, MetaLR 0.72
- G50C (p.Gly50Cys), Ensembl rs1577920855, MetaLR 0.72, MetaSVM 0.68
- G50D (p.Gly50Asp), ExAC rs771477682, gnomAD rs771477682, REVEL 0.58, MetaLR 0.65
- G50S (p.Gly50Ser), Ensembl rs1577920855, REVEL 0.55, MetaLR 0.72
- G50V (p.Gly50Val), gnomAD 4-69096669-G-T, REVEL 0.60, MetaLR 0.72
- H51D (p.His51Asp), ExAC rs777092380, gnomAD rs777092380, REVEL 0.38, MetaLR 0.61, Drug response
- H51L (p.His51Leu), ExAC rs759114615, gnomAD rs759114615
- H51P (p.His51Pro), ExAC rs759114615, gnomAD rs759114615, MetaLR 0.57, MetaSVM -0.22
- H51Y (p.His51Tyr), rs777092380, ClinGen CA357095363, ClinVar RCV001028972, ExAC rs777092380, REVEL 0.39, MetaLR 0.61, drug response, Tramadol response
- H51R (p.His51Arg), gnomAD 4-69096672-A-G, REVEL 0.41, MetaLR 0.49
- E52* (p.Glu52Ter), gnomAD rs1409497478, CADD 34.00
- E52E (p.Glu52Glu), rs764715261, gnomAD 4-69096676-G-A, CADD 2.17
- V53M (p.Val53Met), ExAC rs752397753, TOPMed rs752397753, gnomAD rs752397753, REVEL 0.51, MetaLR 0.64
- T54S (p.Thr54Ser), cosmic curated COSV59444, ESP rs376374784, ExAC rs376374784, TOPMed rs376374784, REVEL 0.33, MetaLR 0.37
- V55I (p.Val55Ile), ExAC rs201563351, gnomAD rs201563351, REVEL 0.27, MetaLR 0.33, Likely benign, not specified
- V55L (p.Val55Leu), ExAC rs201563351, gnomAD rs201563351, REVEL 0.30, MetaLR 0.35
- V55A (p.Val55Ala), gnomAD 4-69096684-T-C, REVEL 0.27, MetaLR 0.28
- V55V (p.Val55Val), gnomAD 4-69096685-A-T, CADD 0.55
- L56P (p.Leu56Pro), TOPMed rs1719238869, MetaLR 0.61, MetaSVM 0.27
- L56V (p.Leu56Val), rs142158304, ClinGen CA2944526, ClinVar RCV004332691, ESP rs142158304, REVEL 0.27, MetaLR 0.37, Uncertain significance, not specified
- L56L (p.Leu56Leu), rs142158304, gnomAD 4-69096686-C-T, CADD 1.43
- A57E (p.Ala57Glu), 1000Genomes rs147538491, ExAC rs147538491, gnomAD rs147538491, REVEL 0.14, MetaLR 0.22
- A57P (p.Ala57Pro), TOPMed rs1207209058, gnomAD rs1207209058, REVEL 0.21, MetaLR 0.26, Uncertain significance, not specified
- A57T (p.Ala57Thr), cosmic curated COSV10881, TOPMed rs1207209058, gnomAD rs1207209058, REVEL 0.03, MetaLR 0.06
- S58P (p.Ser58Pro), gnomAD 4-69096692-T-C, REVEL 0.05, MetaLR 0.05
- S58F (p.Ser58Phe), gnomAD 4-69096693-C-T, REVEL 0.15, MetaLR 0.38
- S59Y (p.Ser59Tyr), rs1719239304, gnomAD 4-69096695-T-TA, CADD 17.60
- S59P (p.Ser59Pro), gnomAD 4-69096695-T-C, REVEL 0.25, MetaLR 0.37
- S59S (p.Ser59Ser), rs1482586034, gnomAD 4-69096697-A-C, CADD 4.37
- A60S (p.Ala60Ser), rs1314561243, ClinGen CA357095414, ClinVar RCV004290000, TOPMed rs1314561243, REVEL 0.05, MetaLR 0.15, Uncertain significance, not specified
- A60V (p.Ala60Val), TOPMed rs1436118132, gnomAD rs1436118132, REVEL 0.07, MetaLR 0.17
- A60P (p.Ala60Pro), gnomAD 4-69096698-G-C, REVEL 0.10, MetaLR 0.16
- A60A (p.Ala60Ala), gnomAD 4-69096700-T-G, CADD 4.30
- S61F (p.Ser61Phe), cosmic curated COSV59445, Ensembl rs144693330
- S61S (p.Ser61Ser), rs1719239752, gnomAD 4-69096703-C-T, CADD 2.43
- I62V (p.Ile62Val), Ensembl rs1719239826, REVEL 0.02, MetaLR 0.10
- I62T (p.Ile62Thr), gnomAD 4-69096705-T-C, REVEL 0.06, MetaLR 0.11
- L63F (p.Leu63Phe), cosmic curated COSV10518, ExAC rs750369010, TOPMed rs750369010, gnomAD rs750369010, REVEL 0.03, MetaLR 0.09, Uncertain significance
- L63I (p.Leu63Ile), rs750369010, ClinGen CA2944531, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10053, REVEL 0.03, MetaLR 0.14, Uncertain significance, not specified
- L63P (p.Leu63Pro), ExAC rs778794207, TOPMed rs778794207, gnomAD rs778794207, REVEL 0.19, MetaLR 0.36
- F64L (p.Phe64Leu), gnomAD rs1375423566, REVEL 0.04, MetaLR 0.04
- D65E (p.Asp65Glu), gnomAD 4-69096715-T-G, REVEL 0.04, MetaLR 0.21
- P66S (p.Pro66Ser), gnomAD 4-69096716-C-T, REVEL 0.02, MetaLR 0.12
- P66L (p.Pro66Leu), gnomAD 4-69096717-C-T, REVEL 0.06, MetaLR 0.19
- P66P (p.Pro66Pro), gnomAD 4-69096718-C-T, CADD 2.19
- N67H (p.Asn67His), ExAC rs748435925, gnomAD rs748435925, REVEL 0.15, MetaLR 0.25
- N68S (p.Asn68Ser), gnomAD rs1171010951, REVEL 0.02, MetaLR 0.07
- S69L (p.Ser69Leu), NCI-TCGA Cosmic COSV5944, cosmic curated COSV59443, MetaLR 0.07, MetaSVM -1.07, Variant assessed as somatic; moderate impact.
- S69P (p.Ser69Pro), gnomAD 4-69096725-T-C, REVEL 0.03, MetaLR 0.07
- S69S (p.Ser69Ser), gnomAD 4-69096727-A-T, CADD 1.41
- S70F (p.Ser70Phe), cosmic curated COSV59445, ESP rs373587868, ExAC rs373587868, TOPMed rs373587868, REVEL 0.21, MetaLR 0.21
- S70S (p.Ser70Ser), rs151180306, gnomAD 4-69096730-C-T, CADD 0.47
- A71P (p.Ala71Pro), 1000Genomes rs12233719, ESP rs12233719, ExAC rs12233719, TOPMed rs12233719, REVEL 0.07, MetaLR 0.09, Drug response
- A71S (p.Ala71Ser), rs12233719, ClinGen CA2944536, cosmic curated COSV59441, ClinVar RCV001028970, REVEL 0.04, MetaLR 0.00, drug response, Tramadol response
- A71T (p.Ala71Thr), 1000Genomes rs12233719, ESP rs12233719, ExAC rs12233719, TOPMed rs12233719, REVEL 0.06, MetaLR 0.11, Drug response
- A71G (p.Ala71Gly), gnomAD 4-69096732-C-G, REVEL 0.01, MetaLR 0.13
- A71V (p.Ala71Val), gnomAD 4-69096732-C-T, REVEL 0.11, MetaLR 0.26
- A71A (p.Ala71Ala), gnomAD 4-69096733-T-G, CADD 4.91
- L72F (p.Leu72Phe), 1000Genomes rs61154511, ExAC rs61154511, TOPMed rs61154511, gnomAD rs61154511, REVEL 0.10, MetaLR 0.09
- L72V (p.Leu72Val), 1000Genomes rs61154511, ExAC rs61154511, TOPMed rs61154511, gnomAD rs61154511, REVEL 0.04, MetaLR 0.12
- K73N (p.Lys73Asn), TOPMed rs1182543833, REVEL 0.05, MetaLR 0.08
- K73Q (p.Lys73Gln), NCI-TCGA TCGA novel, MetaLR 0.23, MetaSVM -0.83, Variant assessed as somatic; moderate impact.
- I74M (p.Ile74Met), NCI-TCGA Cosmic COSV5944, cosmic curated COSV59442, REVEL 0.04, MetaLR 0.11, Variant assessed as somatic; moderate impact.
- I74S (p.Ile74Ser), NCI-TCGA TCGA novel, MetaLR 0.11, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- I74T (p.Ile74Thr), 1000Genomes rs371114623, ESP rs371114623, ExAC rs371114623, TOPMed rs371114623, REVEL 0.08, MetaLR 0.08
Public UGT2B7 analysis runs
- UGT2B7 analysis run — UGT2B7 (1,151 variants) — completed 2026-08-19