BTD (Biotinidase) variants and mutations
BTD (also known as Biotinidase) is a human protein-coding gene encoding a biotinidase protein. Biotinidase recycles biotin from biocytin and dietary proteins so cells can reuse this vitamin. Deficiency is treatable with biotin supplementation. This analysis covers 1,033 BTD variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes biotinidase deficiency, hereditary disease, and inborn vitamin metabolic disorder. Example BTD variants include M1V, M1L, and M1T.
Variant analysis overview
- Gene: BTD
- Protein: Biotinidase
- UniProt accession: P43251
- Organism: Homo sapiens
- Variants analyzed: 1033
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 840 unspecified-consequence records; 121 missense variants; 74 synonymous variants; 5 stop-gained variants; 3 in-frame deletions; 13 frameshift variants; 3 splice-region variants; 2 stop lost; 1 substitution
- Prediction scores: 815 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: biotinidase deficiency, hereditary disease, inborn vitamin metabolic disorder, Leber hereditary optic neuropathy, optic atrophy, hereditary optic atrophy, hereditary optic neuropathy, Leigh syndrome, Global developmental delay, Intellectual disability, Macrocephaly, cryptorchidism.
Protein structure and variant hotspots
- Protein features: 1 domains; 6 post-translational modification sites.
- Structural context: 539 variants have structural context.
- PTM context: 17 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to BTD
Notable BTD variants
Examples include M1V, M1L, M1T, S2F, S2S, G3E, G3S, G3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), gnomAD 3-15631479-A-G, REVEL 0.21, ESM-1b 0.00
- M1L (p.Met1Leu), rs1296590454, gnomAD 3-15631479-A-T, REVEL 0.16, ESM-1b 0.00
- M1T (p.Met1Thr), rs2065202491, gnomAD 3-15631480-T-C, REVEL 0.19, ESM-1b 0.00
- S2F (p.Ser2Phe), rs754794170, ClinGen CA2277233, ClinVar RCV003360125, ExAC rs754794170, REVEL 0.30, CADD 18.00, Uncertain significance, Inborn genetic diseases
- S2S (p.Ser2Ser), gnomAD 3-15635445-T-C, CADD 9.29
- G3E (p.Gly3Glu), cosmic curated COSV57728
- G3S (p.Gly3Ser), gnomAD 3-15601872-G-A, REVEL 0.20, CADD 5.00
- G3D (p.Gly3Asp), rs138473616, gnomAD 3-15601873-G-A, REVEL 0.30, CADD 12.70
- G3G (p.Gly3Gly), gnomAD 3-15601874-C-A, CADD 9.34
- G3R (p.Gly3Arg), gnomAD 3-15635446-G-A, REVEL 0.37, CADD 21.00
- A4T (p.Ala4Thr), rs776094195, gnomAD 3-15601854-G-A, REVEL 0.32, ESM-1b 0.00
- A4S (p.Ala4Ser), rs776094195, gnomAD 3-15601854-G-T, REVEL 0.32, ESM-1b 0.00
- A4A (p.Ala4Ala), gnomAD 3-15601856-G-A, CADD 13.80
- A4P (p.Ala4Pro), gnomAD 3-15601860-G-C, REVEL 0.20, ESM-1b 0.00
- A4V (p.Ala4Val), gnomAD 3-15601861-C-T, REVEL 0.08, ESM-1b 0.00
- A4D (p.Ala4Asp), gnomAD 3-15631450-C-A, REVEL 0.19, ESM-1b 0.00
- R5I (p.Arg5Ile), rs2471438647, ClinGen CA351602750, ClinVar RCV003602517, REVEL 0.32, CADD 22.60, Uncertain significance, Biotinidase deficiency
- R5S (p.Arg5Ser), Ensembl rs2065319947
- R5G (p.Arg5Gly), rs1454831418, gnomAD 3-15601878-A-G, REVEL 0.27, CADD 13.50
- R5C (p.Arg5Cys), gnomAD 3-15601881-C-T, REVEL 0.38, CADD 9.43
- R5P (p.Arg5Pro), rs755029574, gnomAD 3-15601882-G-C, REVEL 0.28, CADD 8.35
- R5H (p.Arg5His), gnomAD 3-15601882-G-A, REVEL 0.27, CADD 8.31
- R5R (p.Arg5Arg), gnomAD 3-15601883-C-G, CADD 4.87
- R5* (p.Arg5Ter), rs143058480, gnomAD 3-15601893-A-T, CADD 8.91
- R5del (p.Arg5del), gnomAD 3-15635451-CAGA-C, CADD 17.70
- S6R (p.Ser6Arg), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, Variant assessed as somatic; moderate impact.
- S6G (p.Ser6Gly), rs752826506, gnomAD 3-15601890-A-G, REVEL 0.17, CADD 5.45
- S6C (p.Ser6Cys), gnomAD 3-15601890-A-T, REVEL 0.32, CADD 2.72
- S6I (p.Ser6Ile), rs756367542, gnomAD 3-15601891-G-T, REVEL 0.14, CADD 6.13
- K7E (p.Lys7Glu), ExAC rs781152718, gnomAD rs781152718, REVEL 0.26, CADD 14.10
- K7R (p.Lys7Arg), Ensembl rs2065320121
- K7* (p.Lys7Ter), rs2064259477, gnomAD 3-15601887-A-T, CADD 9.47
- K7M (p.Lys7Met), rs1337778814, gnomAD 3-15601888-A-T, REVEL 0.20, CADD 7.29
- K7K (p.Lys7Lys), rs781354864, gnomAD 3-15601889-G-A, CADD 10.70
- K7Q (p.Lys7Gln), rs1334616254, gnomAD 3-15631476-A-C, REVEL 0.15, CADD 9.35
- K7N (p.Lys7Asn), rs2125437184, gnomAD 3-15631478-G-C, REVEL 0.11, CADD 20.40
- L8P (p.Leu8Pro), rs928220347, gnomAD 3-15631468-T-C, REVEL 0.19, CADD 9.72
- L8L (p.Leu8Leu), rs148276195, gnomAD 3-15631469-A-G, CADD 3.03
- A9T (p.Ala9Thr), gnomAD 3-15601884-G-A, REVEL 0.14, CADD 6.88
- A9S (p.Ala9Ser), rs1348745452, gnomAD 3-15601884-G-T, REVEL 0.20, CADD 6.34
- A9A (p.Ala9Ala), gnomAD 3-15601886-T-C, CADD 2.91
- A9G (p.Ala9Gly), gnomAD 3-15635465-C-G, REVEL 0.24, CADD 13.80
- L10F (p.Leu10Phe), ExAC rs752626624, TOPMed rs752626624, gnomAD rs752626624, REVEL 0.17, CADD 17.60
- L10P (p.Leu10Pro), Ensembl rs112215950
- L10V (p.Leu10Val), ExAC rs752626624, TOPMed rs752626624, gnomAD rs752626624, REVEL 0.18, CADD 13.40
- F11L (p.Phe11Leu), rs921977208, ClinGen CA70613435, ClinVar RCV002659648, TOPMed rs921977208, REVEL 0.32, CADD 15.40, Uncertain significance, Biotinidase deficiency
- F11Y (p.Phe11Tyr), cosmic curated COSV57729, ESM-1b 0.00, AlphaMissense 0.11
- F11S (p.Phe11Ser), rs2065319089, gnomAD 3-15635426-T-C, REVEL 0.47, CADD 22.50
- L12V (p.Leu12Val), rs1308997618, gnomAD 3-15631488-T-G, REVEL 0.07, CADD 8.31
- L12S (p.Leu12Ser), gnomAD 3-15631489-T-C, REVEL 0.17, CADD 11.50
- L12* (p.Leu12Ter), rs1219115206, gnomAD 3-15631489-T-G, CADD 33.00
- L12L (p.Leu12Leu), rs755603849, gnomAD 3-15635475-C-G, CADD 6.67
- C13F (p.Cys13Phe), rs141131444, ClinGen CA2277237, ClinVar RCV000987126, ClinVar RCV000998006, REVEL 0.34, CADD 12.80, Conflicting interpretations, BTD-related disorder; not provided; Biotinidase deficiency
- C13R (p.Cys13Arg), TOPMed rs1409568622
- C13Y (p.Cys13Tyr), 1000Genomes rs141131444, ESP rs141131444, ExAC rs141131444, TOPMed rs141131444, REVEL 0.28, CADD 17.70, Uncertain significance
- C13* (p.Cys13Ter), gnomAD 3-15635478-C-A, CADD 24.70
- C13C (p.Cys13Cys), rs201564216, gnomAD 3-15635478-C-T, CADD 3.43
- G14E (p.Gly14Glu), cosmic curated COSV10032, ESM-1b 0.00, AlphaMissense 0.08
- G14L (p.Gly14Leu), rs765906887, ClinGen CA2277238, ClinVar RCV000415039, ClinVar RCV000987127, Pathogenic
- G14R (p.Gly14Arg), rs119103232, ClinGen CA351602804, ClinVar RCV000998007, ExAC rs119103232, AlphaMissense 0.11, MetaLR 0.54, Uncertain significance, not provided
- G14S (p.Gly14Ser), rs119103232, ClinGen CA278010, ClinVar RCV000001976, ClinVar RCV004751191, REVEL 0.29, AlphaMissense 0.11, Pathogenic/Likely pathogenic, Biotinidase deficiency
- G14C (p.Gly14Cys), gnomAD 3-15635479-G-T, REVEL 0.36, CADD 14.50
- G14V (p.Gly14Val), gnomAD 3-15635480-G-T, REVEL 0.34, CADD 15.70
- C15L (p.Cys15Leu), rs750965140, ClinGen CA2277239, ClinVar RCV000987128, Pathogenic
- C15S (p.Cys15Ser), TOPMed rs879054278
- C15W (p.Cys15Trp), Ensembl rs1575013546
- C15G (p.Cys15Gly), gnomAD 3-15635482-T-G, REVEL 0.40, CADD 23.90
- Y16* (p.Tyr16Ter), rs1057516812, ClinGen CA16040909, ClinVar RCV000411926, TOPMed rs1057516812, Pathogenic
- Y16C (p.Tyr16Cys), ExAC rs778597438, gnomAD rs778597438, REVEL 0.52, CADD 2.83
- Y16Y (p.Tyr16Tyr), rs201823743, gnomAD 3-15635487-C-T, CADD 3.98
- V17M (p.Val17Met), rs772369148, ClinGen CA2277242, ClinVar RCV001950099, ClinVar RCV002561398, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; BTD-related disorder; Biotinidase deficiency
- V17V (p.Val17Val), rs1036133088, gnomAD 3-15635490-G-C, CADD 8.08
- V18I (p.Val18Ile), Ensembl rs2065321830, ESM-1b 0.00, AlphaMissense 0.11
- V18V (p.Val18Val), rs1482104070, gnomAD 3-15635433-C-A, CADD 8.39
- V18L (p.Val18Leu), gnomAD 3-15635491-G-C, REVEL 0.33, ESM-1b 0.00
- A19V (p.Ala19Val), rs1310040913, NCI-TCGA Cosmic COSV5772, cosmic curated COSV57729, gnomAD rs1310040913, REVEL 0.34, CADD 20.30, Variant assessed as somatic; moderate impact.
- A19E (p.Ala19Glu), gnomAD 3-15631492-C-A, REVEL 0.17, CADD 14.70
- A19A (p.Ala19Ala), rs755628324, gnomAD 3-15635496-C-T, CADD 12.70
- L20G (p.Leu20Gly), rs1553652080, ClinGen CA658822114, ClinVar RCV000664888, Likely pathogenic
- L20P (p.Leu20Pro), rs2471439603, ClinGen CA351602844, ClinVar RCV003486506, REVEL 0.87, CADD 23.90, Likely pathogenic, Biotinidase deficiency
- L20L (p.Leu20Leu), rs1243398055, gnomAD 3-15635499-G-C, CADD 9.09
- G21E (p.Gly21Glu), TOPMed rs1417002076, gnomAD rs1417002076, REVEL 0.42, CADD 16.90
- G21P (p.Gly21Pro), rs2125453296, ClinGen CA2499216563, ClinVar RCV001389326, Pathogenic
- G21R (p.Gly21Arg), Ensembl rs2065322120
- G21V (p.Gly21Val), TOPMed rs1417002076, gnomAD rs1417002076
- A22P (p.Ala22Pro), rs761112772, ClinGen CA351602853, ClinVar RCV001801075, ExAC rs761112772, AlphaMissense 0.09, MetaLR 0.69, Uncertain significance, not provided
- A22S (p.Ala22Ser), ExAC rs761112772, gnomAD rs761112772, REVEL 0.25, AlphaMissense 0.09, Uncertain significance
- A22G (p.Ala22Gly), gnomAD 3-15635504-C-G, REVEL 0.33, CADD 6.78
- A22V (p.Ala22Val), gnomAD 3-15635504-C-T, REVEL 0.35, CADD 1.33
- A22A (p.Ala22Ala), rs768786550, gnomAD 3-15635505-C-A, CADD 8.77
- H23R (p.His23Arg), cosmic curated COSV10032, ESM-1b 0.00, AlphaMissense 0.06
- H23Y (p.His23Tyr), ESP rs374156287, ExAC rs374156287, TOPMed rs374156287, gnomAD rs374156287, REVEL 0.34, CADD 3.88
- H23N (p.His23Asn), rs1254275322, gnomAD 3-15601857-C-A, REVEL 0.07, CADD 12.20
- H23D (p.His23Asp), rs1254275322, gnomAD 3-15601857-C-G, REVEL 0.11, CADD 12.40
- H23H (p.His23His), rs374044613, gnomAD 3-15601865-T-C, CADD 3.27
- H23Q (p.His23Gln), gnomAD 3-15635508-C-A, REVEL 0.28, CADD 6.79
- T24A (p.Thr24Ala), cosmic curated COSV10032
- T24I (p.Thr24Ile), cosmic curated COSV10514
- T24N (p.Thr24Asn), cosmic curated COSV57728, REVEL 0.25, CADD 8.47
- T24T (p.Thr24Thr), gnomAD 3-15635511-C-G, CADD 1.40
- G25R (p.Gly25Arg), rs34885143, ClinGen CA241269, cosmic curated COSV10814, ClinVar RCV000021888, REVEL 0.43, CADD 1.12, Conflicting interpretations, not specified; not provided; Biotinidase deficiency
- G25T (p.Gly25Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G25W (p.Gly25Trp), gnomAD 3-15635512-G-T, REVEL 0.39, CADD 6.74
- E26* (p.Glu26Ter), rs397514336, ClinGen CA278146, ClinVar RCV003474466, Ensembl rs397514336, AlphaMissense 0.07, MetaLR 0.59, Pathogenic
- E26K (p.Glu26Lys), Ensembl rs397514336, Pathogenic
- E26G (p.Glu26Gly), gnomAD 3-15635516-A-G, REVEL 0.23, CADD 16.60
- E26E (p.Glu26Glu), rs759354648, gnomAD 3-15635517-G-A, CADD 3.04
- E27Q (p.Glu27Gln), gnomAD 3-15635518-G-C, REVEL 0.29, CADD 4.04
- E27E (p.Glu27Glu), rs530566306, gnomAD 3-15635520-G-A, CADD 0.34
- S28T (p.Ser28Thr), gnomAD rs1173924570, REVEL 0.28, CADD 4.35
- S28N (p.Ser28Asn), gnomAD 3-15635522-G-A, REVEL 0.17, CADD 5.39
- S28R (p.Ser28Arg), gnomAD 3-15635523-C-A, REVEL 0.29, CADD 0.30
- S28S (p.Ser28Ser), rs144654790, gnomAD 3-15635523-C-T, CADD 1.29
- V29M (p.Val29Met), ExAC rs752641015, gnomAD rs752641015, REVEL 0.23, CADD 12.60
- A30V (p.Ala30Val), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, Variant assessed as somatic; moderate impact.
- A30T (p.Ala30Thr), rs756051380, gnomAD 3-15635527-G-A, REVEL 0.26, CADD 15.10
- D31E (p.Asp31Glu), Ensembl rs2125453721
- H32N (p.His32Asn), gnomAD 3-15635533-C-A, REVEL 0.12, CADD 2.53
- H32R (p.His32Arg), gnomAD 3-15635534-A-G, REVEL 0.20, CADD 0.23
- H32H (p.His32His), gnomAD 3-15635535-T-C, CADD 2.20
- H33D (p.His33Asp), TOPMed rs2065323538
- H33Q (p.His33Gln), ExAC rs397514337, TOPMed rs397514337, gnomAD rs397514337, Likely benign
- H33R (p.His33Arg), cosmic curated COSV57729
- H33del (p.His33del), gnomAD 3-15635532-CCAT-C, CADD 5.25
- H33H (p.His33His), rs397514337, gnomAD 3-15635538-C-T, CADD 1.24
- E34* (p.Glu34Ter), rs397514338, NCI-TCGA Cosmic COSV5772, NCI-TCGA Cosmic COSV5773, cosmic curated COSV57730, AlphaMissense 0.07, MetaLR 0.59, Pathogenic
- E34G (p.Glu34Gly), NCI-TCGA Cosmic COSV5772, cosmic curated COSV57729, Variant assessed as somatic; moderate impact.
- E34K (p.Glu34Lys), cosmic curated COSV57728, ExAC rs397514338, TOPMed rs397514338, gnomAD rs397514338, REVEL 0.22, AlphaMissense 0.07, Uncertain significance, not provided
- E34E (p.Glu34Glu), gnomAD 3-15635541-G-A, CADD 3.53
- A35T (p.Ala35Thr), rs1020171739, ClinGen CA70613674, ClinVar RCV003437717, Ensembl rs1020171739, REVEL 0.13, CADD 13.70, Uncertain significance, not provided
- A35A (p.Ala35Ala), rs756829942, gnomAD 3-15635544-T-C, CADD 2.01
- E36K (p.Glu36Lys), ExAC rs778509548, gnomAD rs778509548, REVEL 0.31, CADD 13.60
- Y37* (p.Tyr37Ter), rs397514339, ClinGen CA278148, ClinVar RCV003474461, Ensembl rs397514339, CADD 32.00, Pathogenic
- Y37C (p.Tyr37Cys), gnomAD 3-15635549-A-G, REVEL 0.33, CADD 5.00
- Y38C (p.Tyr38Cys), rs2471440561, ClinGen CA351603088, ClinVar RCV002904660, Uncertain significance, Biotinidase deficiency
- Y38N (p.Tyr38Asn), cosmic curated COSV57730
- Y38H (p.Tyr38His), gnomAD 3-15635551-T-C, REVEL 0.74, CADD 24.60
- Y38F (p.Tyr38Phe), gnomAD 3-15635552-A-T, REVEL 0.40, CADD 14.30
- Y38Y (p.Tyr38Tyr), rs2125453888, gnomAD 3-15635553-T-C, CADD 2.50
- V39A (p.Val39Ala), TOPMed rs1312159836, REVEL 0.46, CADD 18.60
- V39V (p.Val39Val), gnomAD 3-15635556-G-C, CADD 4.02
- A40L (p.Ala40Leu), gnomAD 3-15635555-TG-T, CADD 22.90
- A40C (p.Ala40Cys), gnomAD 3-15635556-GGC-G, CADD 26.30
- A40V (p.Ala40Val), gnomAD 3-15635557-GC-G, CADD 24.90
- A40G (p.Ala40Gly), gnomAD 3-15635558-C-G, REVEL 0.74, CADD 24.30
- A41M (p.Ala41Met), gnomAD 3-15635559-T-TATG, CADD 25.50
- A41T (p.Ala41Thr), gnomAD 3-15635560-G-A, REVEL 0.85, CADD 24.70
- A41A (p.Ala41Ala), rs747945967, gnomAD 3-15635562-C-T, CADD 0.36
- V42A (p.Val42Ala), rs780281959, ClinGen CA2277257, ClinVar RCV003601990, ExAC rs780281959, AlphaMissense 0.60, MetaLR 0.96, Likely pathogenic, Biotinidase deficiency
- V42L (p.Val42Leu), ExAC rs397507170, TOPMed rs397507170, gnomAD rs397507170, REVEL 0.81, CADD 23.50, Pathogenic
- V42M (p.Val42Met), rs397507170, ClinGen CA278152, NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, REVEL 0.80, CADD 23.70, Pathogenic/Likely pathogenic, BTD-related disorder; Biotinidase deficiency
- V42G (p.Val42Gly), gnomAD 3-15635564-T-G, REVEL 0.91, CADD 24.90
- V42V (p.Val42Val), rs927037987, gnomAD 3-15635565-G-A, CADD 4.05
- Y43C (p.Tyr43Cys), cosmic curated COSV11439
- Y43M (p.Tyr43Met), gnomAD 3-15635564-TG-T, CADD 22.80
- E44D (p.Glu44Asp), rs397514436, ClinGen CA278386, ClinVar RCV000032017, ClinVar RCV000506513, AlphaMissense 0.92, MetaLR 0.95, Conflicting interpretations, not specified; Biotinidase deficiency
- E44K (p.Glu44Lys), rs397514340, NCI-TCGA Cosmic COSV5772, cosmic curated COSV57729, Ensembl rs397514340, REVEL 0.86, CADD 23.50, Likely pathogenic, Biotinidase deficiency
- H45R (p.His45Arg), rs397514341, ClinVar RCV005198251, Ensembl rs397514341, REVEL 0.87, CADD 23.60, Conflicting interpretations, Biotinidase deficiency
- H45Y (p.His45Tyr), Ensembl rs2065324753
- P46T (p.Pro46Thr), rs778785164, ClinGen CA10617565, ClinVar RCV002520100, gnomAD rs778785164, REVEL 0.30, CADD 13.20, Uncertain significance, Inborn genetic diseases
- P46S (p.Pro46Ser), gnomAD 3-15635575-C-T, REVEL 0.29, CADD 12.80
- P46P (p.Pro46Pro), rs1159185297, gnomAD 3-15635577-A-G, CADD 0.83
- S47C (p.Ser47Cys), rs747489101, NCI-TCGA Cosmic COSV5772, cosmic curated COSV57729, ExAC rs747489101, REVEL 0.40, CADD 18.40, Uncertain significance
- S47Y (p.Ser47Tyr), gnomAD 3-15635579-C-A, REVEL 0.41, CADD 14.60
- I48F (p.Ile48Phe), 1000Genomes rs114092911, ESP rs114092911, ExAC rs114092911, TOPMed rs114092911, Benign
- I48V (p.Ile48Val), rs114092911, ClinGen CA2277259, ClinVar RCV000633686, ClinVar RCV003478355, REVEL 0.17, CADD 0.84, Benign/Likely benign, not provided; Biotinidase deficiency
- I48T (p.Ile48Thr), rs1214245001, gnomAD 3-15631474-T-C, REVEL 0.15, CADD 7.30
- I48S (p.Ile48Ser), rs1182128650, gnomAD 3-15635438-T-G, REVEL 0.50, CADD 16.80
- I48I (p.Ile48Ile), rs1385046880, gnomAD 3-15635439-T-C, CADD 7.18
- L49H (p.Leu49His), rs1205964567, ClinGen CA278485, ClinVar RCV000169475, ClinVar RCV000759005, Pathogenic
- L49P (p.Leu49Pro), TOPMed rs2065325318, gnomAD rs2065325318, REVEL 0.77, CADD 24.00
- L49V (p.Leu49Val), ExAC rs777344863, TOPMed rs777344863, gnomAD rs777344863, REVEL 0.40, CADD 9.83
- L49L (p.Leu49Leu), rs777344863, gnomAD 3-15635584-C-T, CADD 0.28
- S50R (p.Ser50Arg), ExAC rs761951282, gnomAD rs761951282
- S50T (p.Ser50Thr), TOPMed rs1475716283
- L51P (p.Leu51Pro), rs397514333, ClinGen CA278161, cosmic curated COSV10032, ClinVar RCV000021900, REVEL 0.43, CADD 4.73, Conflicting interpretations, BTD-related disorder; not specified; not provided
- L51V (p.Leu51Val), gnomAD 3-15635590-C-G, REVEL 0.20, CADD 9.29
- L51L (p.Leu51Leu), gnomAD 3-15635592-G-A, CADD 0.04
- N52K (p.Asn52Lys), TOPMed rs2065325755, Uncertain significance, Inborn genetic diseases
- N52S (p.Asn52Ser), ExAC rs773436040, gnomAD rs773436040, REVEL 0.25, CADD 13.60
Public BTD analysis runs
- BTD analysis run — BTD (1,033 variants) — completed 2026-10-09