CYP27B1 (O15528) variants and mutations
CYP27B1 (also known as O15528) is a human protein-coding gene encoding a 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial protein. The kidney enzyme that converts 25-hydroxyvitamin D into active 1,25-dihydroxyvitamin D. Biallelic variants cause vitamin D-dependent rickets type 1A. This analysis covers 617 CYP27B1 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes vitamin D-dependent rickets, type 1A, vitamin D-dependent rickets, type 1, and hereditary disease. Example CYP27B1 variants include T2I, T4I, and L5F.
Variant analysis overview
- Gene: CYP27B1
- Protein: O15528
- UniProt accession: O15528
- Organism: Homo sapiens
- Variants analyzed: 617
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 650 unspecified-consequence records; 6 substitution
- Prediction scores: 577 variants have prediction scores (94% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: vitamin D-dependent rickets, type 1A, vitamin D-dependent rickets, type 1, hereditary disease, rickets, Abnormality of the skeletal system, rheumatoid arthritis, neoplasm, pyknoachondrogenesis, X-linked osteoporosis with fractures, type 1 diabetes mellitus, systemic lupus erythematosus, sarcoidosis.
Protein structure and variant hotspots
- Protein features: 1 binding sites.
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.
Diseases linked to CYP27B1
Notable CYP27B1 variants
Examples include T2I, T4I, L5F, L5R, K6R, Y7*, A8T, A8V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- T2I (p.Thr2Ile), Ensembl rs888983913, REVEL 0.22, ESM-1b 0.00
- T4I (p.Thr4Ile), gnomAD rs1320069263, REVEL 0.23, ESM-1b 0.00
- L5F (p.Leu5Phe), TOPMed rs1955369120, ESM-1b 0.00, AlphaMissense 0.09
- L5R (p.Leu5Arg), ExAC rs745516871, TOPMed rs745516871, gnomAD rs745516871, ESM-1b 0.00, AlphaMissense 0.08
- K6R (p.Lys6Arg), ESP rs374801900, ESM-1b 0.00, AlphaMissense 0.07
- Y7* (p.Tyr7Ter), rs778438734, ClinGen CA6658567, ClinVar RCV003663468, ExAC rs778438734, Pathogenic
- A8T (p.Ala8Thr), rs577501884, 1000Genomes rs577501884, ExAC rs577501884, TOPMed rs577501884, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Inborn genetic diseases
- A8V (p.Ala8Val), gnomAD rs1429403278, REVEL 0.12, ESM-1b 0.00
- S9F (p.Ser9Phe), ExAC rs748833551, TOPMed rs748833551, gnomAD rs748833551, ESM-1b 0.00, AlphaMissense 0.18, Uncertain significance
- S9P (p.Ser9Pro), TOPMed rs1050216132, gnomAD rs1050216132, ESM-1b 0.00, AlphaMissense 0.08
- S9Y (p.Ser9Tyr), ExAC rs748833551, TOPMed rs748833551, gnomAD rs748833551, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance, Vitamin D-dependent rickets, type 1A
- R10I (p.Arg10Ile), Ensembl rs1955368858, REVEL 0.39, ESM-1b 0.00
- V11M (p.Val11Met), ExAC rs755512223, TOPMed rs755512223, gnomAD rs755512223, ESM-1b 0.00, AlphaMissense 0.16
- F12S (p.Phe12Ser), Ensembl rs1955368774, REVEL 0.14, ESM-1b 0.00
- H13R (p.His13Arg), rs1194321036, NCI-TCGA Cosmic COSV5734, gnomAD rs1194321036, ESM-1b 0.00, AlphaMissense 0.06, Variant assessed as somatic; moderate impact.
- R14C (p.Arg14Cys), rs150648140, ClinGen CA6658562, ClinVar RCV000309324, ClinVar RCV001859852, ESM-1b 0.00, AlphaMissense 0.14, Uncertain significance, Vitamin D-dependent rickets, type 1A; Vitamin D-dependent rickets, type 1; not p
- R14H (p.Arg14His), rs372223837, ClinGen CA6658561, ClinVar RCV001203041, ClinVar RCV002484091, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance, Vitamin D-dependent rickets, type 1A; not provided
- R14L (p.Arg14Leu), ESP rs372223837, ExAC rs372223837, TOPMed rs372223837, gnomAD rs372223837, REVEL 0.14, ESM-1b 0.00, Uncertain significance
- V15I (p.Val15Ile), rs202028173, ClinGen CA6658558, ClinVar RCV002586052, ClinVar RCV005008619, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, not provided; Vitamin D-dependent rickets, type 1A
- R16C (p.Arg16Cys), gnomAD rs1461772648, ESM-1b 0.00, AlphaMissense 0.11
- R16L (p.Arg16Leu), ExAC rs765408119, gnomAD rs765408119, ESM-1b 0.00, AlphaMissense 0.10
- R16P (p.Arg16Pro), ExAC rs765408119, gnomAD rs765408119, ESM-1b 0.00, AlphaMissense 0.10
- R16S (p.Arg16Ser), gnomAD rs1461772648, ESM-1b 0.00, AlphaMissense 0.14
- W17* (p.Trp17Ter), rs2140398340, ClinGen CA385510247, ClinVar RCV001388293, Ensembl rs2140398340, Pathogenic
- W17R (p.Trp17Arg), rs761902845, ClinGen CA237818317, ClinVar RCV004367841, ExAC rs761902845, ESM-1b 0.00, AlphaMissense 0.15, Uncertain significance, Inborn genetic diseases
- A18T (p.Ala18Thr), gnomAD rs1341705420, ESM-1b 0.00, AlphaMissense 0.08
- A18V (p.Ala18Val), gnomAD rs1271030322, REVEL 0.10, ESM-1b 0.00
- P19H (p.Pro19His), ExAC rs764196493, TOPMed rs764196493, gnomAD rs764196493, REVEL 0.20, ESM-1b 0.00
- E20D (p.Glu20Asp), ExAC rs771838478, TOPMed rs771838478, gnomAD rs771838478, ESM-1b 0.00, AlphaMissense 0.09
- E20K (p.Glu20Lys), rs775461299, NCI-TCGA Cosmic COSV5734, ExAC rs775461299, TOPMed rs775461299, ESM-1b 0.00, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- E20Q (p.Glu20Gln), ExAC rs775461299, TOPMed rs775461299, gnomAD rs775461299, ESM-1b 0.00, AlphaMissense 0.07
- A23P (p.Ala23Pro), Ensembl rs1955367824, ESM-1b 0.00, AlphaMissense 0.07
- S24F (p.Ser24Phe), rs774009424, NCI-TCGA Cosmic COSV9914, ExAC rs774009424, ESM-1b 0.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- S24T (p.Ser24Thr), TOPMed rs1955367803, ESM-1b 0.00, AlphaMissense 0.08
- G26D (p.Gly26Asp), TOPMed rs911184682, gnomAD rs911184682, ESM-1b 0.00, AlphaMissense 0.09
- G26R (p.Gly26Arg), ExAC rs748991170, TOPMed rs748991170, gnomAD rs748991170, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Vitamin D-dependent rickets, type 1A; Inborn genetic diseases
- R28L (p.Arg28Leu), ExAC rs780429096, TOPMed rs780429096, gnomAD rs780429096, ESM-1b 0.00, AlphaMissense 0.12
- R28Q (p.Arg28Gln), ExAC rs780429096, TOPMed rs780429096, gnomAD rs780429096, REVEL 0.24, ESM-1b 0.00
- E29Q (p.Glu29Gln), NCI-TCGA Cosmic COSV9914, Ensembl rs2140398293, REVEL 0.08, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- Y30D (p.Tyr30Asp), ExAC rs758749494, gnomAD rs758749494, ESM-1b 0.00, AlphaMissense 0.07
- A33C (p.Ala33Cys), NCI-TCGA Cosmic COSV9914, Variant assessed as somatic; moderate impact.
- R34C (p.Arg34Cys), TOPMed rs955639760, ESM-1b 0.00, AlphaMissense 0.10
- R34H (p.Arg34His), ExAC rs757388190, TOPMed rs757388190, gnomAD rs757388190, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Inborn genetic diseases
- R34L (p.Arg34Leu), ExAC rs757388190, TOPMed rs757388190, gnomAD rs757388190, ESM-1b 0.00, AlphaMissense 0.09
- R34S (p.Arg34Ser), TOPMed rs955639760, ESM-1b 0.00, AlphaMissense 0.13
- R35P (p.Arg35Pro), TOPMed rs1174482641, gnomAD rs1174482641, ESM-1b 1.00, AlphaMissense 0.16
- R35W (p.Arg35Trp), ExAC rs754122776, TOPMed rs754122776, gnomAD rs754122776, REVEL 0.20, ESM-1b 1.00
- S36I (p.Ser36Ile), Ensembl rs1955367240, REVEL 0.09, ESM-1b 1.00
- D39H (p.Asp39His), Ensembl rs1565812090, ESM-1b 0.00, AlphaMissense 0.20
- D39N (p.Asp39Asn), Ensembl rs1565812090, ESM-1b 1.00, AlphaMissense 0.14
- P41L (p.Pro41Leu), gnomAD rs982250460, ESM-1b 1.00, AlphaMissense 0.35
- P41R (p.Pro41Arg), gnomAD rs982250460, ESM-1b 1.00, AlphaMissense 0.16
- G42C (p.Gly42Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P43L (p.Pro43Leu), Ensembl rs1193681282, ESM-1b 0.53, AlphaMissense 0.32
- P43S (p.Pro43Ser), gnomAD rs1329033115, REVEL 0.76, ESM-1b 1.00
- S44A (p.Ser44Ala), ExAC rs752594802, gnomAD rs752594802, ESM-1b 0.38, AlphaMissense 0.12
- S44F (p.Ser44Phe), gnomAD rs1165833658, ESM-1b 1.00, AlphaMissense 0.47
- S44P (p.Ser44Pro), ExAC rs752594802, gnomAD rs752594802, ESM-1b 0.00, AlphaMissense 0.14
- T45K (p.Thr45Lys), gnomAD rs1425729117, ESM-1b 0.00, AlphaMissense 0.15
- L49V (p.Leu49Val), Ensembl rs201343041, ESM-1b 0.00, AlphaMissense 0.11
- A50T (p.Ala50Thr), rs759569512, ClinGen CA6658533, ClinVar RCV002647170, ClinVar RCV002670801, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Inborn genetic diseases; not provided; Vitamin D-dependent rickets, type 1A
- F53S (p.Phe53Ser), TOPMed rs1955366760, ESM-1b 1.00, AlphaMissense 0.67
- C54A (p.Cys54Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C54T (p.Cys54Thr), NCI-TCGA Cosmic COSV5734, Variant assessed as somatic; moderate impact.
- K55E (p.Lys55Glu), rs1955366694, ClinGen CA385509797, ClinVar RCV002301257, TOPMed rs1955366694, ESM-1b 0.00, AlphaMissense 0.20, Uncertain significance, not provided
- K55M (p.Lys55Met), rs762682469, ClinGen CA6658530, ClinVar RCV001966315, ClinVar RCV003333774, ESM-1b 0.66, AlphaMissense 0.20, Uncertain significance, not provided; Vitamin D-dependent rickets, type 1A
- K55T (p.Lys55Thr), ExAC rs762682469, TOPMed rs762682469, gnomAD rs762682469, ESM-1b 0.00, AlphaMissense 0.20, Uncertain significance
- G56A (p.Gly56Ala), ExAC rs769363080, TOPMed rs769363080, gnomAD rs769363080, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance
- G56E (p.Gly56Glu), rs769363080, ClinGen CA385509780, ClinVar RCV003115944, ClinVar RCV005011223, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance, Vitamin D-dependent rickets, type 1A; not provided
- G56R (p.Gly56Arg), ExAC rs202032208, gnomAD rs202032208, ESM-1b 0.11, AlphaMissense 0.18, Uncertain significance, Vitamin D-dependent rickets, type 1A
- G56W (p.Gly56Trp), ExAC rs202032208, gnomAD rs202032208, ESM-1b 1.00, AlphaMissense 0.38, Uncertain significance
- G57A (p.Gly57Ala), ESP rs376304260, ExAC rs376304260, TOPMed rs376304260, gnomAD rs376304260, ESM-1b 1.00, AlphaMissense 0.29, Pathogenic
- G57E (p.Gly57Glu), rs376304260, NCI-TCGA Cosmic COSV9914, ESP rs376304260, ExAC rs376304260, ESM-1b 1.00, AlphaMissense 0.70, Pathogenic
- G57R (p.Gly57Arg), Ensembl rs1955366552, ESM-1b 0.91, AlphaMissense 0.65
- G57V (p.Gly57Val), rs376304260, ClinGen CA6658526, ClinVar RCV001949260, ClinVar RCV005635378, ESM-1b 1.00, AlphaMissense 0.70, Pathogenic/Likely pathogenic, Vitamin D-dependent rickets, type 1A; not provided
- L58P (p.Leu58Pro), gnomAD rs1222006976, ESM-1b 0.00, AlphaMissense 0.25
- S59L (p.Ser59Leu), gnomAD rs1279648951, ESM-1b 0.00, AlphaMissense 0.17
- R60S (p.Arg60Ser), gnomAD rs1343219109, ESM-1b 0.13, AlphaMissense 0.56
- L61P (p.Leu61Pro), ExAC rs779138180, gnomAD rs779138180, ESM-1b 1.00, AlphaMissense 0.63
- H62P (p.His62Pro), Ensembl rs1955366248, ESM-1b 1.00, AlphaMissense 0.39
- H62Q (p.His62Gln), gnomAD rs1955366223, ESM-1b 1.00, AlphaMissense 0.81, Uncertain significance, not provided
- H62Y (p.His62Tyr), ExAC rs757673918, gnomAD rs757673918, ESM-1b 1.00, AlphaMissense 0.71
- E63* (p.Glu63Ter), TOPMed rs1955366197
- E63K (p.Glu63Lys), NCI-TCGA TCGA novel, TOPMed rs1955366197, ESM-1b 1.00, AlphaMissense 0.33, Variant assessed as somatic; moderate impact.
- L64R (p.Leu64Arg), gnomAD rs1402984747, ESM-1b 1.00, AlphaMissense 0.36
- Q65H (p.Gln65His), rs868704228, UniProt VAR 016969, Ensembl rs868704228, ESM-1b 0.37, AlphaMissense 0.84, Pathogenic, in VDDR1A
- Q67H (p.Gln67His), TOPMed rs1157396007, ESM-1b 0.00, AlphaMissense 0.16
- Q67R (p.Gln67Arg), rs548176807, ClinGen CA6658507, ClinVar RCV002873881, ClinVar RCV005011144, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases; Vitamin D-dependent rickets, type 1A; not provided
- G68C (p.Gly68Cys), TOPMed rs1347138487, ESM-1b 0.00, AlphaMissense 0.38
- G68D (p.Gly68Asp), TOPMed rs1477629069, gnomAD rs1477629069, ESM-1b 1.00, AlphaMissense 0.57
- G68V (p.Gly68Val), TOPMed rs1477629069, gnomAD rs1477629069, ESM-1b 0.25, AlphaMissense 0.56
- A69S (p.Ala69Ser), gnomAD rs1417691738, ESM-1b 0.00, AlphaMissense 0.11
- A70T (p.Ala70Thr), ExAC rs761605625, TOPMed rs761605625, gnomAD rs761605625, ESM-1b 0.21, AlphaMissense 0.09
- A70V (p.Ala70Val), TOPMed rs1242617024, gnomAD rs1242617024, REVEL 0.14, ESM-1b 1.00
- H71L (p.His71Leu), Ensembl rs921594300, ESM-1b 0.00, AlphaMissense 0.08
- H71R (p.His71Arg), Ensembl rs921594300, ESM-1b 0.00, AlphaMissense 0.04
- G73E (p.Gly73Glu), TOPMed rs1955359102, ESM-1b 1.00, AlphaMissense 0.92, Uncertain significance, Inborn genetic diseases
- G73R (p.Gly73Arg), gnomAD rs1264493784, ESM-1b 1.00, AlphaMissense 0.86
- P74L (p.Pro74Leu), rs2540918369, ClinGen CA385509502, ClinVar RCV003761188, ESM-1b 1.00, AlphaMissense 0.27, Uncertain significance, Vitamin D-dependent rickets, type 1A
- W76L (p.Trp76Leu), gnomAD rs1316902674, REVEL 0.60, ESM-1b 1.00
- L77P (p.Leu77Pro), rs2540918360, ClinGen CA385509447, ClinVar RCV002731127, ESM-1b 1.00, AlphaMissense 0.80, Uncertain significance, not provided
- L77V (p.Leu77Val), TOPMed rs1349810277, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Inborn genetic diseases
- A78S (p.Ala78Ser), ExAC rs768276712, TOPMed rs768276712, gnomAD rs768276712, ESM-1b 0.00, AlphaMissense 0.16
- A78T (p.Ala78Thr), ExAC rs768276712, TOPMed rs768276712, gnomAD rs768276712, ESM-1b 0.00, AlphaMissense 0.21
- F80S (p.Phe80Ser), TOPMed rs1955358924, ESM-1b 0.00, AlphaMissense 0.78
- T82I (p.Thr82Ile), TOPMed rs1317339698, REVEL 0.12, ESM-1b 1.00
- V83A (p.Val83Ala), TOPMed rs1955358843, REVEL 0.13, ESM-1b 0.07
- R84C (p.Arg84Cys), rs1451132521, gnomAD rs1451132521, ESM-1b 1.00, AlphaMissense 0.18, Variant assessed as somatic; moderate impact.
- R84G (p.Arg84Gly), gnomAD rs1451132521, ESM-1b 1.00, AlphaMissense 0.18
- R84H (p.Arg84His), gnomAD rs1408323166, REVEL 0.07, ESM-1b 0.00
- V86M (p.Val86Met), gnomAD rs1465203104, ESM-1b 1.00, AlphaMissense 0.51
- V88M (p.Val88Met), gnomAD rs1172880350, ESM-1b 1.00, AlphaMissense 0.34
- A89V (p.Ala89Val), TOPMed rs1182872192, gnomAD rs1182872192, REVEL 0.52, ESM-1b 1.00
- A90V (p.Ala90Val), TOPMed rs1442728120, gnomAD rs1442728120, ESM-1b 0.40, AlphaMissense 0.14
- A92E (p.Ala92Glu), TOPMed rs1203721715, gnomAD rs1203721715, ESM-1b 0.00, AlphaMissense 0.09
- A92T (p.Ala92Thr), rs958027919, ClinGen CA237815690, ClinVar RCV002983026, ClinVar RCV005010850, ESM-1b 0.44, AlphaMissense 0.08, Uncertain significance, not provided; Vitamin D-dependent rickets, type 1A
- A92V (p.Ala92Val), TOPMed rs1203721715, gnomAD rs1203721715, REVEL 0.08, ESM-1b 0.63
- V94A (p.Val94Ala), TOPMed rs1457598169, gnomAD rs1457598169, ESM-1b 0.00, AlphaMissense 0.24
- V94L (p.Val94Leu), TOPMed rs1955358473, ESM-1b 0.41, AlphaMissense 0.18
- E96* (p.Glu96Ter), TOPMed rs1955358409, Uncertain significance
- E96K (p.Glu96Lys), rs1955358409, ClinGen CA385508146, ClinVar RCV004367838, TOPMed rs1955358409, ESM-1b 0.77, AlphaMissense 0.18, Uncertain significance, Inborn genetic diseases
- R99L (p.Arg99Leu), TOPMed rs1206202382, gnomAD rs1206202382, ESM-1b 1.00, AlphaMissense 0.50
- R99P (p.Arg99Pro), TOPMed rs1206202382, gnomAD rs1206202382, ESM-1b 1.00, AlphaMissense 0.96
- R99Q (p.Arg99Gln), TOPMed rs1206202382, gnomAD rs1206202382, REVEL 0.80, ESM-1b 1.00
- G102E (p.Gly102Glu), rs1057520815, ClinGen CA16606366, ClinVar RCV000443114, ClinVar RCV000723316, ESM-1b 1.00, AlphaMissense 0.41, Pathogenic, not provided
- R104Q (p.Arg104Gln), rs370689065, ClinGen CA6658500, ClinVar RCV002715601, ClinVar RCV005002873, ESM-1b 0.00, AlphaMissense 0.08, Conflicting interpretations, not provided; Vitamin D-dependent rickets, type 1A; not specified
- R104W (p.Arg104Trp), rs771215877, ClinGen CA6658501, ClinVar RCV002602768, ClinVar RCV003250786, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; not provided
- P105L (p.Pro105Leu), gnomAD rs1316435952, ESM-1b 1.00, AlphaMissense 0.56
- E106* (p.Glu106Ter), rs756300813, ClinGen CA385507965, ClinVar RCV003700029, ExAC rs756300813, AlphaMissense 0.13, MetaLR 0.14, Pathogenic
- E106K (p.Glu106Lys), ExAC rs756300813, gnomAD rs756300813, ESM-1b 0.00, AlphaMissense 0.13, Pathogenic
- R107H (p.Arg107His), rs28934604, ClinGen CA115124, ClinVar RCV000001725, ClinVar RCV001195100, ESM-1b 1.00, AlphaMissense 0.55, Likely pathogenic, Vitamin D-dependent rickets, type 1
- R107S (p.Arg107Ser), TOPMed rs1955358055, gnomAD rs1955358055, ESM-1b 1.00, AlphaMissense 0.93
- C108G (p.Cys108Gly), NCI-TCGA Cosmic COSV9914, Variant assessed as somatic; high impact.
- C108R (p.Cys108Arg), TOPMed rs1955357999, gnomAD rs1955357999, ESM-1b 0.00, AlphaMissense 0.64, Uncertain significance, not provided
- S109T (p.Ser109Thr), 1000Genomes rs748472549, ExAC rs748472549, gnomAD rs748472549, REVEL 0.06, ESM-1b 0.00
- F110L (p.Phe110Leu), rs781119946, ClinGen CA6658496, ClinVar RCV002609184, ExAC rs781119946, ESM-1b 0.00, AlphaMissense 0.84, Uncertain significance, not provided
- S111L (p.Ser111Leu), TOPMed rs1055335288, gnomAD rs1055335288, ESM-1b 0.00, AlphaMissense 0.12
- P112A (p.Pro112Ala), gnomAD rs1184200724, ESM-1b 0.00, AlphaMissense 0.07
- P112L (p.Pro112Leu), rs1024923221, ClinGen CA237815624, ClinVar RCV002284044, Ensembl rs1024923221, ESM-1b 0.76, AlphaMissense 0.28, Pathogenic/Likely pathogenic, Vitamin D-dependent rickets, type 1A
- P112S (p.Pro112Ser), gnomAD rs1184200724, REVEL 0.28, ESM-1b 0.00
- W113R (p.Trp113Arg), ExAC rs751386712, gnomAD rs751386712, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, Inborn genetic diseases; Vitamin D-dependent rickets, type 1A
- T114A (p.Thr114Ala), Ensembl rs1955357787, ESM-1b 0.00, AlphaMissense 0.06
- T114K (p.Thr114Lys), gnomAD rs1247839240, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance
- T114R (p.Thr114Arg), rs1247839240, ClinGen CA385507797, ClinVar RCV002012335, gnomAD rs1247839240, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, not provided
- H116D (p.His116Asp), rs758218175, ClinGen CA6658492, ClinVar RCV002616690, ClinVar RCV005011056, ESM-1b 1.00, AlphaMissense 0.08, Uncertain significance, Vitamin D-dependent rickets, type 1A; not provided
- H116P (p.His116Pro), Ensembl rs2140397628, ESM-1b 1.00, AlphaMissense 0.61, Uncertain significance
- H116R (p.His116Arg), rs2140397628, ClinGen CA385507758, ClinVar RCV003018818, ESM-1b 1.00, AlphaMissense 0.61, Uncertain significance, not provided
- H116Y (p.His116Tyr), 1000Genomes rs758218175, ExAC rs758218175, TOPMed rs758218175, gnomAD rs758218175, ESM-1b 1.00, AlphaMissense 0.08, Uncertain significance
- R117C (p.Arg117Cys), gnomAD rs1220713472, ESM-1b 1.00, AlphaMissense 0.59
- R117H (p.Arg117His), rs765161769, ClinGen CA6658490, ClinVar RCV002991858, ClinVar RCV005010867, ESM-1b 1.00, AlphaMissense 0.56, Uncertain significance, Vitamin D-dependent rickets, type 1A; not provided; Inborn genetic diseases
- R117P (p.Arg117Pro), ExAC rs765161769, gnomAD rs765161769, ESM-1b 1.00, AlphaMissense 0.93, Uncertain significance
- R117S (p.Arg117Ser), gnomAD rs1220713472, ESM-1b 1.00, AlphaMissense 0.94
- R118S (p.Arg118Ser), ExAC rs761365991, gnomAD rs761365991, ESM-1b 0.00, AlphaMissense 0.17
- C119Y (p.Cys119Tyr), ExAC rs776399364, gnomAD rs776399364, ESM-1b 0.00, AlphaMissense 0.09
- R120C (p.Arg120Cys), rs763451961, ClinGen CA6658487, NCI-TCGA Cosmic COSV5734, ClinVar RCV002671700, ESM-1b 0.50, AlphaMissense 0.38, Uncertain significance, Inborn genetic diseases; not provided
- R120H (p.Arg120His), TOPMed rs928099706, gnomAD rs928099706, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Inborn genetic diseases
- R120S (p.Arg120Ser), rs763451961, ClinGen CA237815572, ClinVar RCV003118956, ClinVar RCV005011224, ESM-1b 1.00, AlphaMissense 0.38, Uncertain significance, Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; not provided
- Q121* (p.Gln121Ter), rs760233049, ClinGen CA6658486, ClinVar RCV002670823, ExAC rs760233049, Pathogenic
- R122Q (p.Arg122Gln), Ensembl rs995481284, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Vitamin D-dependent rickets, type 1A
- R122W (p.Arg122Trp), 1000Genomes rs561541172, TOPMed rs561541172, gnomAD rs561541172, REVEL 0.24, ESM-1b 1.00, Likely benign
- A123G (p.Ala123Gly), NCI-TCGA Cosmic COSV5734, Variant assessed as somatic; moderate impact.
- A123P (p.Ala123Pro), TOPMed rs1955357287, ESM-1b 1.00, AlphaMissense 0.09, Uncertain significance, Inborn genetic diseases
- C124* (p.Cys124Ter), rs771410002, ClinGen CA385507610, ClinVar RCV003554035, ExAC rs771410002, AlphaMissense 0.29, MetaLR 0.32, Pathogenic
- C124F (p.Cys124Phe), Ensembl rs867617059, ESM-1b 0.03, AlphaMissense 0.14
- C124G (p.Cys124Gly), ExAC rs774677094, gnomAD rs774677094, ESM-1b 0.00, AlphaMissense 0.08
- C124W (p.Cys124Trp), ExAC rs771410002, TOPMed rs771410002, gnomAD rs771410002, ESM-1b 0.29, AlphaMissense 0.29, Pathogenic
- C124T (p.Cys124Thr), NCI-TCGA TCGA novel, REVEL 0.77, Variant assessed as somatic; moderate impact.
- G125T (p.Gly125Thr), NCI-TCGA Cosmic COSV5735, Variant assessed as somatic; moderate impact.
- G125E (p.Gly125Glu), rs28934605, ClinGen CA115125, ClinVar RCV000001726, UniProt VAR 016953, ESM-1b 1.00, AlphaMissense 0.97, Likely pathogenic, Vitamin D-dependent rickets, type 1A
- G125R (p.Gly125Arg), rs1555202494, ClinGen CA385507606, ClinVar RCV000498710, gnomAD rs1555202494, ESM-1b 1.00, AlphaMissense 0.94, Likely pathogenic, not provided
- G125V (p.Gly125Val), TOPMed rs28934605, ESM-1b 1.00, AlphaMissense 0.91, Conflicting interpretations, Vitamin D-dependent rickets, type 1A
- L127F (p.Leu127Phe), gnomAD rs1164061626, ESM-1b 1.00, AlphaMissense 0.42
- A129T (p.Ala129Thr), rs58915677, ClinGen CA6658482, ClinVar RCV000896271, ClinVar RCV003910674, ESM-1b 0.56, AlphaMissense 0.16, Likely benign, not provided
- A129V (p.Ala129Val), rs2140397587, ClinGen CA385507516, ClinVar RCV001843328, ClinVar RCV005006081, ESM-1b 0.27, AlphaMissense 0.26, Likely pathogenic, Vitamin D-dependent rickets, type 1A; Vitamin D-dependent rickets, type 1
- E130G (p.Glu130Gly), gnomAD rs1156863154, ESM-1b 1.00, AlphaMissense 0.18
- E130K (p.Glu130Lys), rs577603625, ClinGen CA6658444, ClinVar RCV001367121, 1000Genomes rs577603625, ESM-1b 1.00, AlphaMissense 0.15, Uncertain significance, not provided
- E130Q (p.Glu130Gln), 1000Genomes rs577603625, ExAC rs577603625, gnomAD rs577603625, ESM-1b 0.00, AlphaMissense 0.15, Uncertain significance
- G131A (p.Gly131Ala), gnomAD rs1955352588, REVEL 0.81, ESM-1b 1.00
- E132D (p.Glu132Asp), TOPMed rs767032150, gnomAD rs767032150, ESM-1b 0.52, AlphaMissense 0.10, Likely benign
- E132K (p.Glu132Lys), rs1471238106, NCI-TCGA Cosmic COSV9914, TOPMed rs1471238106, gnomAD rs1471238106, ESM-1b 0.44, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
Public CYP27B1 analysis runs
- CYP27B1 analysis run — CYP27B1 (617 variants) — completed 2026-10-09