VDR (Vitamin D3 receptor) variants and mutations
VDR (also known as Vitamin D3 receptor) is a human protein-coding gene encoding a vitamin D3 receptor protein. It converts active vitamin D binding into transcriptional programs that regulate calcium and phosphate balance, bone mineralization, and many tissue-specific functions. Biallelic loss-of-function variants cause hereditary vitamin-D-resistant rickets with hypocalcemia, secondary hyperparathyroidism, and impaired bone mineralization. This analysis covers 755 VDR variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Hypocalcemic vitamin D-resistant rickets, psoriasis, and chronic kidney disease. Example VDR variants include M1?, M1R, and M1T.
Variant analysis overview
- Gene: VDR
- Protein: Vitamin D3 receptor
- UniProt accession: P11473
- Organism: Homo sapiens
- Variants analyzed: 755
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 517 unspecified-consequence records; 1 stop retained variant; 12 frameshift variants; 1 stop lost; 81 synonymous variants; 130 missense variants; 8 stop-gained variants; 1 in-frame insertions; 2 splice-region variants; 1 in-frame deletions; 1 substitution
- Prediction scores: 596 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Hypocalcemic vitamin D-resistant rickets, psoriasis, chronic kidney disease, osteoporosis, vitamin D deficiency, secondary hyperparathyroidism, psoriasis vulgaris, Hypocalcemia, hypoparathyroidism, anemia (phenotype), postmenopausal osteoporosis, parathyroid gland disorder.
Protein structure and variant hotspots
- Protein features: 1 domains; 14 binding sites.
- Structural context: 549 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable VDR variants
Examples include M1?, M1R, M1T, E2D, E2K, A3E, A3T, M4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV10874, cosmic curated COSV57470
- M1R (p.Met1Arg), rs2228570, ClinGen CA236485203, ClinVar RCV004554972, AlphaMissense 0.23, MetaLR 0.00, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- M1T (p.Met1Thr), rs2228570, ClinGen CA6534113, ClinVar RCV000601968, ClinVar RCV000988816, AlphaMissense 0.23, MetaLR 0.00, Uncertain significance, not provided
- E2D (p.Glu2Asp), NCI-TCGA Cosmic COSV9996, cosmic curated COSV99968, Variant assessed as somatic; moderate impact.
- E2K (p.Glu2Lys), ExAC rs779954117, gnomAD rs779954117, REVEL 0.50, MetaLR 0.76, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- A3E (p.Ala3Glu), ESP rs199938161, ExAC rs199938161, TOPMed rs199938161, gnomAD rs199938161, REVEL 0.29, MetaLR 0.47
- A3T (p.Ala3Thr), gnomAD rs1416964833, REVEL 0.33, MetaLR 0.40
- M4V (p.Met4Val), rs537469733, ClinGen CA6534109, cosmic curated COSV57468, ClinVar RCV002588198, REVEL 0.18, MetaLR 0.62, Uncertain significance, not provided
- A5T (p.Ala5Thr), ExAC rs764054471, TOPMed rs764054471, gnomAD rs764054471, REVEL 0.26, MetaLR 0.67
- A5V (p.Ala5Val), rs368441608, ClinGen CA6534107, ClinVar RCV001111987, ClinVar RCV002556186, REVEL 0.23, MetaLR 0.56, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia
- A6S (p.Ala6Ser), TOPMed rs1201137636, gnomAD rs1201137636, REVEL 0.15, MetaLR 0.64
- A6T (p.Ala6Thr), TOPMed rs1201137636, gnomAD rs1201137636, REVEL 0.18, MetaLR 0.65
- A6V (p.Ala6Val), rs765563014, ClinGen CA6534105, cosmic curated COSV57466, ClinVar RCV002803074, REVEL 0.27, MetaLR 0.60, Uncertain significance, Inborn genetic diseases
- T8A (p.Thr8Ala), cosmic curated COSV10721, ExAC rs776847875, gnomAD rs776847875, REVEL 0.20, MetaLR 0.63
- T8I (p.Thr8Ile), NCI-TCGA Cosmic COSV5746, cosmic curated COSV57467, Variant assessed as somatic; moderate impact.
- T8P (p.Thr8Pro), ExAC rs776847875, gnomAD rs776847875, REVEL 0.54, MetaLR 0.72
- T8S (p.Thr8Ser), ExAC rs766835351, TOPMed rs766835351, gnomAD rs766835351, REVEL 0.34, MetaLR 0.65, Uncertain significance, not provided
- S9F (p.Ser9Phe), cosmic curated COSV57471, gnomAD rs1348964021, REVEL 0.67, MetaLR 0.91
- P11H (p.Pro11His), cosmic curated COSV99969
- P11S (p.Pro11Ser), rs1440932619, NCI-TCGA Cosmic COSV5746, cosmic curated COSV57468, TOPMed rs1440932619, REVEL 0.24, MetaLR 0.63, Variant assessed as somatic; moderate impact.
- D12G (p.Asp12Gly), TOPMed rs1016178956, gnomAD rs1016178956, REVEL 0.22, MetaLR 0.60
- P13R (p.Pro13Arg), gnomAD rs1393616341, REVEL 0.47, MetaLR 0.86
- P13S (p.Pro13Ser), ExAC rs761055434, gnomAD rs761055434, REVEL 0.23, MetaLR 0.67
- P13T (p.Pro13Thr), cosmic curated COSV57467
- G14A (p.Gly14Ala), ESP rs145438594, TOPMed rs145438594, gnomAD rs145438594, REVEL 0.18, MetaLR 0.63
- G14E (p.Gly14Glu), ESP rs145438594, TOPMed rs145438594, gnomAD rs145438594, REVEL 0.20, MetaLR 0.58
- G14R (p.Gly14Arg), TOPMed rs1427534934, gnomAD rs1427534934, REVEL 0.30, MetaLR 0.71
- D15G (p.Asp15Gly), TOPMed rs1466047868, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- D15Y (p.Asp15Tyr), cosmic curated COSV10721
- F16L (p.Phe16Leu), 1000Genomes rs11832059, ESP rs11832059, ExAC rs11832059, TOPMed rs11832059, REVEL 0.48, MetaLR 0.65, Benign
- R18P (p.Arg18Pro), 1000Genomes rs115085431, TOPMed rs115085431, gnomAD rs115085431, REVEL 0.62, MetaLR 0.82, Uncertain significance
- R18Q (p.Arg18Gln), rs115085431, ClinGen CA6534096, ClinVar RCV003894539, 1000Genomes rs115085431, REVEL 0.36, MetaLR 0.77, Uncertain significance, VDR-related disorder
- R18W (p.Arg18Trp), rs147496897, ClinGen CA6534099, cosmic curated COSV57468, ClinVar RCV001111985, REVEL 0.63, MetaLR 0.89, Conflicting interpretations, not provided; not specified; Vitamin D-dependent rickets type II with alopecia
- N19S (p.Asn19Ser), rs992960287, NCI-TCGA Cosmic COSV9996, cosmic curated COSV99968, TOPMed rs992960287, REVEL 0.32, MetaLR 0.68, Variant assessed as somatic; moderate impact.
- V20M (p.Val20Met), rs375156114, ClinGen CA6534093, ClinVar RCV002774550, ESP rs375156114, REVEL 0.30, MetaLR 0.77, Uncertain significance, Inborn genetic diseases
- P21A (p.Pro21Ala), ESP rs371855706, ExAC rs371855706, TOPMed rs371855706, gnomAD rs371855706, Uncertain significance
- P21L (p.Pro21Leu), ExAC rs781313589, TOPMed rs781313589, gnomAD rs781313589, REVEL 0.81, MetaLR 0.90
- P21S (p.Pro21Ser), rs371855706, ClinGen CA6534091, ClinVar RCV001233138, ClinVar RCV005012650, REVEL 0.80, MetaLR 0.89, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia
- P21T (p.Pro21Thr), ESP rs371855706, ExAC rs371855706, TOPMed rs371855706, gnomAD rs371855706, REVEL 0.80, MetaLR 0.92, Uncertain significance
- R22L (p.Arg22Leu), 1000Genomes rs201676749, ExAC rs201676749, TOPMed rs201676749, gnomAD rs201676749, REVEL 0.83, MetaLR 0.93, Uncertain significance
- R22P (p.Arg22Pro), rs201676749, ClinGen CA384515058, ClinVar RCV002949609, REVEL 0.84, MetaLR 0.93, Uncertain significance, not provided
- R22Q (p.Arg22Gln), rs201676749, ClinGen CA6534086, cosmic curated COSV10721, ClinVar RCV001109686, REVEL 0.61, MetaLR 0.87, Uncertain significance, Vitamin D-dependent rickets type II with alopecia; not provided
- R22W (p.Arg22Trp), rs199929033, ClinGen CA6534088, cosmic curated COSV57468, ClinVar RCV001111983, REVEL 0.82, MetaLR 0.93, Conflicting interpretations, not provided; Vitamin D-dependent rickets type II with alopecia
- I23L (p.Ile23Leu), TOPMed rs1946077321, REVEL 0.65, MetaLR 0.75
- C24S (p.Cys24Ser), gnomAD rs1267829972, REVEL 0.95, MetaLR 1.00, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- G25E (p.Gly25Glu), cosmic curated COSV10721, REVEL 0.66, MetaLR 0.88
- V26L (p.Val26Leu), TOPMed rs1946077078, gnomAD rs1946077078, REVEL 0.92, AlphaMissense 1.00
- V26M (p.Val26Met), rs1946077078, ClinGen CA384515010, ClinVar RCV003058374, AlphaMissense 1.00, MetaLR 0.98, Likely pathogenic, not provided
- C27R (p.Cys27Arg), rs2540017371, ClinGen CA384515000, ClinVar RCV003564573, Uncertain significance, not provided
- G28A (p.Gly28Ala), NCI-TCGA Cosmic COSV5746, cosmic curated COSV57469, Variant assessed as somatic; moderate impact.
- G28E (p.Gly28Glu), cosmic curated COSV10721, REVEL 0.95, MetaLR 0.94
- D29A (p.Asp29Ala), gnomAD rs1280836121, Uncertain significance
- D29E (p.Asp29Glu), gnomAD rs1433706740, REVEL 0.91, MetaLR 0.94
- D29G (p.Asp29Gly), rs1280836121, ClinGen CA384514964, ClinVar RCV001221893, ClinVar RCV002484206, AlphaMissense 1.00, MetaLR 0.97, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia
- R30* (p.Arg30Ter), rs121909801, ClinGen CA119042, ClinVar RCV000008198, ClinVar RCV003555969, CADD 39.00, Pathogenic
- R30G (p.Arg30Gly), ExAC rs121909801, gnomAD rs121909801, REVEL 0.86, MetaLR 0.93, Pathogenic
- R30Q (p.Arg30Gln), rs373875011, ClinGen CA6534082, cosmic curated COSV57469, ClinVar RCV001052234, REVEL 0.60, MetaLR 0.84, Uncertain significance, Vitamin D-dependent rickets type II with alopecia; not provided
- A31V (p.Ala31Val), Ensembl rs1946076344, REVEL 0.95, MetaLR 0.96
- T32A (p.Thr32Ala), TOPMed rs1946076281, REVEL 0.88, MetaLR 0.93
- G33A (p.Gly33Ala), ExAC rs121909790, gnomAD rs121909790, REVEL 0.98, MetaLR 0.97, Uncertain significance, not specified
- G33D (p.Gly33Asp), rs121909790, ClinGen CA119018, NCI-TCGA Cosmic COSV5747, cosmic curated COSV57470, REVEL 0.97, MetaLR 0.98, Pathogenic, Vitamin D-dependent rickets type II with alopecia
- F34L (p.Phe34Leu), ExAC rs762363150, gnomAD rs762363150, REVEL 0.92, MetaLR 0.88, Uncertain significance, Inborn genetic diseases
- H35Q (p.His35Gln), UniProt VAR 004657, Pathogenic, in VDDR2A
- N37D (p.Asn37Asp), TOPMed rs1410412556, gnomAD rs1410412556, REVEL 0.81, MetaLR 0.88
- N37S (p.Asn37Ser), rs370473254, ClinGen CA6534077, ClinVar RCV001907086, ClinVar RCV002246589, REVEL 0.86, MetaLR 0.92, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia
- A38T (p.Ala38Thr), gnomAD rs1453903440
- A38V (p.Ala38Val), TOPMed rs1946075589, REVEL 0.72, MetaLR 0.77
- M39I (p.Met39Ile), NCI-TCGA Cosmic COSV9996, cosmic curated COSV99968, Variant assessed as somatic; moderate impact.
- M39T (p.Met39Thr), gnomAD rs1463920811, REVEL 0.94, MetaLR 0.88
- M39V (p.Met39Val), ExAC rs775226600, gnomAD rs775226600, REVEL 0.88, MetaLR 0.81
- T40A (p.Thr40Ala), ExAC rs769440230, gnomAD rs769440230, REVEL 0.96, MetaLR 0.93
- C41R (p.Cys41Arg), Ensembl rs780967749
- E42* (p.Glu42Ter), cosmic curated COSV99968
- E42K (p.Glu42Lys), NCI-TCGA Cosmic COSV9996, cosmic curated COSV99968, Variant assessed as somatic; moderate impact.
- G43A (p.Gly43Ala), cosmic curated COSV57468, TOPMed rs1192464857, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- G43S (p.Gly43Ser), ExAC rs745684501, gnomAD rs745684501, REVEL 0.93, MetaLR 0.92
- C44Y (p.Cys44Tyr), cosmic curated COSV10874, REVEL 0.96, MetaLR 0.99
- K45E (p.Lys45Glu), UniProt VAR 004658, Pathogenic, in VDDR2A
- G46A (p.Gly46Ala), rs121909797, ClinGen CA6534069, ClinVar RCV002715174, ExAC rs121909797, REVEL 0.87, MetaLR 0.90, Uncertain significance, not provided
- G46D (p.Gly46Asp), rs121909797, ClinGen CA119034, ClinVar RCV000008194, UniProt VAR 004659, REVEL 0.97, MetaLR 0.98, Pathogenic, Vitamin D-dependent rickets type II with alopecia
- G46R (p.Gly46Arg), cosmic curated COSV57467, Ensembl rs1946074635
- G46V (p.Gly46Val), ExAC rs121909797, TOPMed rs121909797, gnomAD rs121909797, REVEL 0.95, MetaLR 0.96, Pathogenic, in VDDR2A
- F47I (p.Phe47Ile), UniProt VAR 004660, Pathogenic, in VDDR2A
- R50* (p.Arg50Ter), rs201106427, ClinGen CA384511783, ClinVar RCV001843694, ClinVar RCV002034718, CADD 41.00, Pathogenic, in VDDR2A
- R50G (p.Arg50Gly), ExAC rs201106427, TOPMed rs201106427, gnomAD rs201106427, REVEL 0.92, MetaLR 0.98, Pathogenic, in VDDR2A
- R50L (p.Arg50Leu), ExAC rs121909794, TOPMed rs121909794, gnomAD rs121909794, Pathogenic, in VDDR2A
- R50Q (p.Arg50Gln), rs121909794, ClinGen CA119028, cosmic curated COSV57469, ClinVar RCV000008191, REVEL 0.91, MetaLR 0.99, Pathogenic, Vitamin D-dependent rickets type II with alopecia
- S51N (p.Ser51Asn), ExAC rs760460470, TOPMed rs760460470
- M52I (p.Met52Ile), rs200041268, ClinGen CA6534014, cosmic curated COSV99969, ClinVar RCV001555738, REVEL 0.67, MetaLR 0.74, Conflicting interpretations, Vitamin D-dependent rickets type II with alopecia; Inborn genetic diseases; not
- M52R (p.Met52Arg), cosmic curated COSV57468
- M52T (p.Met52Thr), cosmic curated COSV57467, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- M52V (p.Met52Val), ExAC rs773055192, TOPMed rs773055192, gnomAD rs773055192, REVEL 0.67, MetaLR 0.70
- R54G (p.Arg54Gly), TOPMed rs1442369494, gnomAD rs1442369494, REVEL 0.83, MetaLR 0.92, Uncertain significance
- R54P (p.Arg54Pro), ESP rs148368146, ExAC rs148368146, TOPMed rs148368146, gnomAD rs148368146, REVEL 0.90, MetaLR 0.94, Uncertain significance
- R54Q (p.Arg54Gln), rs148368146, ClinGen CA6534013, ClinVar RCV001878754, ClinVar RCV002551108, REVEL 0.79, MetaLR 0.92, Uncertain significance, Inborn genetic diseases; not provided; Vitamin D-dependent rickets type II with
- R54W (p.Arg54Trp), rs1442369494, ClinGen CA384511729, cosmic curated COSV10955, ClinVar RCV003860714, REVEL 0.84, MetaLR 0.94, Uncertain significance, not provided
- K55N (p.Lys55Asn), cosmic curated COSV99968
- A56G (p.Ala56Gly), ExAC rs745949193, gnomAD rs745949193, REVEL 0.76, MetaLR 0.91
- A56T (p.Ala56Thr), ExAC rs769876033, TOPMed rs769876033, gnomAD rs769876033, REVEL 0.69, MetaLR 0.85, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- L57P (p.Leu57Pro), TOPMed rs1421129259, gnomAD rs1421129259, REVEL 0.47, MetaLR 0.81
- T59A (p.Thr59Ala), ExAC rs771132039, gnomAD rs771132039
- T59I (p.Thr59Ile), rs145002466, ClinGen CA6534007, ClinVar RCV000890140, ClinVar RCV003940659, REVEL 0.68, MetaLR 0.91, Conflicting interpretations, not provided
- T59P (p.Thr59Pro), ExAC rs771132039, gnomAD rs771132039, REVEL 0.85, MetaLR 0.93
- C60W (p.Cys60Trp), ExAC rs778171487, gnomAD rs778171487, REVEL 0.95, MetaLR 0.98
- C60Y (p.Cys60Tyr), rs1454695428, NCI-TCGA Cosmic COSV9996, cosmic curated COSV99969, gnomAD rs1454695428, AlphaMissense 1.00, MetaLR 0.99, Variant assessed as somatic; moderate impact.
- P61L (p.Pro61Leu), rs1945703092, ClinGen CA384511632, ClinVar RCV001235486, NCI-TCGA TCGA novel, AlphaMissense 0.80, MetaLR 0.91, Uncertain significance, not provided
- P61R (p.Pro61Arg), cosmic curated COSV10506
- F62L (p.Phe62Leu), cosmic curated COSV99968, ExAC rs758739784, REVEL 0.73, MetaLR 0.90
- N63D (p.Asn63Asp), TOPMed rs1945702902
- G64E (p.Gly64Glu), rs1388388273, ClinGen CA384511596, ClinVar RCV002690944, TOPMed rs1388388273, AlphaMissense 0.56, MetaLR 0.91, Uncertain significance, not provided
- G64R (p.Gly64Arg), cosmic curated COSV57469, TOPMed rs1359262907, gnomAD rs1359262907, REVEL 0.71, MetaLR 0.89
- G64W (p.Gly64Trp), cosmic curated COSV10633
- R67C (p.Arg67Cys), rs369248365, ClinGen CA6534002, ClinVar RCV001957409, ClinVar RCV002479457, REVEL 0.68, MetaLR 0.89, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia; Inborn genetic
- R67H (p.Arg67His), rs753383761, ClinGen CA6534001, NCI-TCGA Cosmic COSV5746, cosmic curated COSV57468, REVEL 0.34, MetaLR 0.72, Uncertain significance, not provided
- R67L (p.Arg67Leu), ExAC rs753383761, gnomAD rs753383761, REVEL 0.55, MetaLR 0.70, Uncertain significance
- R67S (p.Arg67Ser), ESP rs369248365, ExAC rs369248365, TOPMed rs369248365, gnomAD rs369248365, REVEL 0.46, MetaLR 0.69, Uncertain significance
- I68V (p.Ile68Val), ExAC rs779775712, TOPMed rs779775712, gnomAD rs779775712, REVEL 0.70, MetaLR 0.90, Uncertain significance, not provided
- K70E (p.Lys70Glu), ExAC rs755797029, gnomAD rs755797029, REVEL 0.86, MetaLR 0.96
- K70Q (p.Lys70Gln), ExAC rs755797029, gnomAD rs755797029, REVEL 0.77, MetaLR 0.95
- K70R (p.Lys70Arg), ExAC rs750091722, TOPMed rs750091722, gnomAD rs750091722, REVEL 0.70, MetaLR 0.92
- D71G (p.Asp71Gly), rs767290901, ClinGen CA6533997, ClinVar RCV001369136, ClinVar RCV005005889, REVEL 0.79, MetaLR 0.87, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia
- N72K (p.Asn72Lys), cosmic curated COSV57469
- N72S (p.Asn72Ser), Ensembl rs76683299, REVEL 0.64, MetaLR 0.89
- N72T (p.Asn72Thr), Ensembl rs76683299
- N72Y (p.Asn72Tyr), Ensembl rs2137165682
- R73* (p.Arg73Ter), rs980041568, ClinGen CA236476911, NCI-TCGA Cosmic COSV5746, cosmic curated COSV57466, CADD 38.00, Pathogenic, in VDDR2A
- R73Q (p.Arg73Gln), rs121909791, ClinGen CA119020, NCI-TCGA Cosmic COSV5746, cosmic curated COSV57469, REVEL 0.93, MetaLR 0.98, Pathogenic/Likely pathogenic, not provided; Vitamin D-dependent rickets type II with alopecia
- R73X, rs980041568, []
- R74C (p.Arg74Cys), ExAC rs762938778, TOPMed rs762938778, gnomAD rs762938778, REVEL 0.82, MetaLR 0.93
- R74H (p.Arg74His), rs1000899385, ClinGen CA236476902, NCI-TCGA Cosmic COSV5746, cosmic curated COSV57466, REVEL 0.90, MetaLR 0.95, Uncertain significance, Vitamin D-dependent rickets type II with alopecia; not provided
- R74S (p.Arg74Ser), rs762938778, ClinGen CA384511475, ClinVar RCV004442860, REVEL 0.87, MetaLR 0.93, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- C76F (p.Cys76Phe), rs1565618291, ClinGen CA384511446, ClinVar RCV000785886, Ensembl rs1565618291, AlphaMissense 1.00, MetaLR 1.00, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- Q77H (p.Gln77His), cosmic curated COSV10721
- A78G (p.Ala78Gly), cosmic curated COSV57470
- A78S (p.Ala78Ser), TOPMed rs770243189, REVEL 0.62, MetaLR 0.87
- A78V (p.Ala78Val), TOPMed rs1945701261, gnomAD rs1945701261, REVEL 0.79, MetaLR 0.96, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- C79Y (p.Cys79Tyr), rs1343795166, ClinGen CA384511406, ClinVar RCV004480339, gnomAD rs1343795166, REVEL 0.91, MetaLR 1.00, Uncertain significance, Inborn genetic diseases
- R80Q (p.Arg80Gln), rs121909793, ClinGen CA119026, cosmic curated COSV10721, ClinVar RCV000008190, REVEL 0.90, MetaLR 0.98, Uncertain significance, Vitamin D-dependent rickets type II with alopecia; not provided
- K82T (p.Lys82Thr), Ensembl rs1565618263
- R83C (p.Arg83Cys), ExAC rs773329096, TOPMed rs773329096, gnomAD rs773329096, REVEL 0.86, MetaLR 0.89
- R83H (p.Arg83His), ExAC rs748467437, gnomAD rs748467437, REVEL 0.88, MetaLR 0.93
- R83P (p.Arg83Pro), ExAC rs748467437, gnomAD rs748467437, REVEL 0.87, MetaLR 0.89
- D86G (p.Asp86Gly), rs534768058, ClinGen CA236476863, ClinVar RCV001226194, ClinVar RCV002504295, REVEL 0.77, MetaLR 0.91, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia
- I87F (p.Ile87Phe), ExAC rs387907555, TOPMed rs387907555, gnomAD rs387907555, REVEL 0.86, MetaLR 0.94, Uncertain significance
- I87V (p.Ile87Val), rs387907555, ClinGen CA216113, ClinVar RCV000054612, ClinVar RCV002477177, REVEL 0.58, MetaLR 0.76, Uncertain significance, not provided; Vitamin D-dependent rickets type II with alopecia
- G88S (p.Gly88Ser), cosmic curated COSV10456, ExAC rs749851876, TOPMed rs749851876, gnomAD rs749851876, REVEL 0.95, MetaLR 0.99
- M90T (p.Met90Thr), gnomAD rs1474374854
- E92A (p.Glu92Ala), TOPMed rs1370224730, gnomAD rs1370224730, REVEL 0.91, MetaLR 0.93
- E92D (p.Glu92Asp), ExAC rs779687938, TOPMed rs779687938, REVEL 0.66, MetaLR 0.86
- E92K (p.Glu92Lys), rs1211812683, ClinGen CA384511265, ClinVar RCV001109684, TOPMed rs1211812683, REVEL 0.91, MetaLR 0.93, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- I94M (p.Ile94Met), Ensembl rs1565613821, REVEL 0.75, MetaLR 0.90
- E98K (p.Glu98Lys), Ensembl rs1945520194, REVEL 0.75, MetaLR 0.87
- E99D (p.Glu99Asp), Ensembl rs1945520115
- V100A (p.Val100Ala), ExAC rs780886928, TOPMed rs780886928, gnomAD rs780886928, REVEL 0.73, MetaLR 0.91, Uncertain significance, Vitamin D-dependent rickets type II with alopecia
- V100E (p.Val100Glu), ExAC rs780886928, TOPMed rs780886928, gnomAD rs780886928, REVEL 0.83, MetaLR 0.92, Uncertain significance
- V100L (p.Val100Leu), TOPMed rs1334628201, gnomAD rs1334628201, REVEL 0.56, MetaLR 0.75
- R104L (p.Arg104Leu), cosmic curated COSV57470
- R104Q (p.Arg104Gln), rs749763626, ClinGen CA6533968, ClinVar RCV001109683, ClinVar RCV002558098, REVEL 0.65, MetaLR 0.92, Uncertain significance, Inborn genetic diseases; not provided; Vitamin D-dependent rickets type II with
- R104W (p.Arg104Trp), rs199705103, ClinGen CA6533969, NCI-TCGA Cosmic COSV9996, cosmic curated COSV99968, REVEL 0.75, MetaLR 0.92, Uncertain significance, not provided
- M106I (p.Met106Ile), NCI-TCGA Cosmic COSV5746, cosmic curated COSV57467, Variant assessed as somatic; moderate impact.
- L108P (p.Leu108Pro), Ensembl rs1945519177
- K109Q (p.Lys109Gln), ExAC rs745379948, gnomAD rs745379948, REVEL 0.39, MetaLR 0.86
- K109R (p.Lys109Arg), Ensembl rs1945519031, REVEL 0.31, MetaLR 0.68
- R110L (p.Arg110Leu), ExAC rs756858031, TOPMed rs756858031, gnomAD rs756858031, REVEL 0.77, MetaLR 0.86, Uncertain significance
- R110Q (p.Arg110Gln), ExAC rs756858031, TOPMed rs756858031, gnomAD rs756858031, REVEL 0.66, MetaLR 0.84, Uncertain significance, Vitamin D-dependent rickets type II with alopecia; not provided
- R110W (p.Arg110Trp), ESP rs368284580, ExAC rs368284580, TOPMed rs368284580, gnomAD rs368284580, REVEL 0.66, MetaLR 0.87
- E112* (p.Glu112Ter), rs2539985015, cosmic curated COSV99968, ClinGen CA384519588, ClinVar RCV003542846, Pathogenic
- E113D (p.Glu113Asp), cosmic curated COSV99968, ExAC rs746718889, gnomAD rs746718889, REVEL 0.50, MetaLR 0.83
- E114A (p.Glu114Ala), ExAC rs754919163, gnomAD rs754919163, REVEL 0.52, MetaLR 0.82
- E114D (p.Glu114Asp), cosmic curated COSV10955
- E114G (p.Glu114Gly), ExAC rs754919163, gnomAD rs754919163
- A115S (p.Ala115Ser), Ensembl rs1462926827, REVEL 0.37, MetaLR 0.78
- A115V (p.Ala115Val), cosmic curated COSV57470, Ensembl rs267603484, REVEL 0.44, MetaLR 0.86
- L116F (p.Leu116Phe), cosmic curated COSV57467
- L116S (p.Leu116Ser), gnomAD rs1470558331, REVEL 0.26, MetaLR 0.62
- K117T (p.Lys117Thr), TOPMed rs1277932912, gnomAD rs1277932912, REVEL 0.18, MetaLR 0.48
- D118N (p.Asp118Asn), TOPMed rs1489187403, gnomAD rs1489187403, REVEL 0.41, MetaLR 0.68
- S119N (p.Ser119Asn), gnomAD rs1240044438, REVEL 0.33, MetaLR 0.76
- L120V (p.Leu120Val), TOPMed rs1205491426, gnomAD rs1205491426, REVEL 0.11, MetaLR 0.64
- R121L (p.Arg121Leu), ESP rs200765991, ExAC rs200765991, TOPMed rs200765991, gnomAD rs200765991, REVEL 0.39, MetaLR 0.74, Uncertain significance
Public VDR analysis runs
- VDR analysis run — VDR (755 variants) — completed 2026-08-19