LBR (Delta(14)-sterol reductase LBR) variants and mutations
LBR (also known as Delta(14)-sterol reductase LBR) is a human protein-coding gene encoding a delta(14)-sterol reductase protein. An inner nuclear-membrane protein with sterol-reductase activity in the cholesterol-biosynthesis pathway. It also contributes to nuclear-envelope organization and myeloid-cell maturation, and LBR variants are associated with Pelger-Huet anomaly and skeletal dysplasia. This analysis covers 1,020 LBR variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes Greenberg dysplasia, regressive spondylometaphyseal dysplasia, and Pelger-Huet anomaly. Example LBR variants include M1V, P2L, and P2Q.
Variant analysis overview
- Gene: LBR
- Protein: Delta(14)-sterol reductase LBR
- UniProt accession: Q14739
- Organism: Homo sapiens
- Variants analyzed: 1020
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 810 unspecified-consequence records; 1 stop retained variant; 111 missense variants; 76 synonymous variants; 10 frameshift variants; 1 in-frame insertions; 3 splice-region variants; 4 stop-gained variants; 4 substitution
- Prediction scores: 996 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Greenberg dysplasia, regressive spondylometaphyseal dysplasia, Pelger-Huet anomaly, Reynolds syndrome, Abnormality of the skeletal system, Jeune syndrome, Mesomelia, polydactyly, postaxial polydactyly, Rhizomelia, Disproportionate short stature, Rhizomelic arm shortening.
Protein structure and variant hotspots
- Protein features: 8 transmembrane segments; 1 domains; 13 post-translational modification sites.
- Structural context: 362 variants have structural context.
- PTM context: 18 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, PharmGKB, MaveDB, LitVar.
Notable LBR variants
Examples include M1V, P2L, P2Q, S3G, S3N, S3T, R4G, R4M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs2527842814, ClinGen CA345003844, ClinVar RCV003015071, ESM-1b 1.00, AlphaMissense 0.19, Pathogenic, not provided
- P2L (p.Pro2Leu), TOPMed rs1250803200, gnomAD rs1250803200, REVEL 0.74, ESM-1b 1.00
- P2Q (p.Pro2Gln), TOPMed rs1250803200, gnomAD rs1250803200, REVEL 0.76, ESM-1b 1.00
- S3G (p.Ser3Gly), gnomAD rs1481485031, REVEL 0.15, ESM-1b 0.00
- S3N (p.Ser3Asn), rs746311894, ClinGen CA1417592, ClinVar RCV002959007, ClinVar RCV005655138, REVEL 0.18, ESM-1b 0.31, Uncertain significance, not provided; Inborn genetic diseases
- S3T (p.Ser3Thr), cosmic curated COSV10584, REVEL 0.19, ESM-1b 0.00
- R4G (p.Arg4Gly), rs781666925, ClinGen CA1417591, ClinVar RCV003850395, ExAC rs781666925, REVEL 0.57, ESM-1b 1.00, Uncertain significance, not provided
- R4M (p.Arg4Met), cosmic curated COSV55291, ESM-1b 1.00, AlphaMissense 0.40
- R4S (p.Arg4Ser), gnomAD rs1274464371, REVEL 0.58, ESM-1b 1.00
- K5E (p.Lys5Glu), rs2096134191, ClinGen CA345003732, ClinVar RCV002600582, TOPMed rs2096134191, REVEL 0.73, ESM-1b 1.00, Uncertain significance, not provided
- A7V (p.Ala7Val), Ensembl rs2150960211, REVEL 0.20, ESM-1b 0.00
- D8G (p.Asp8Gly), TOPMed rs2096134152, gnomAD rs2096134152, REVEL 0.29, ESM-1b 1.00, Uncertain significance, not provided
- D8H (p.Asp8His), rs764873714, ClinGen CA345003637, ClinVar RCV002761216, ExAC rs764873714, REVEL 0.34, ESM-1b 1.00, Uncertain significance, not provided
- D8N (p.Asp8Asn), rs764873714, ClinGen CA1417589, ClinVar RCV004410314, ExAC rs764873714, REVEL 0.24, ESM-1b 0.69, Uncertain significance, Inborn genetic diseases
- D8Y (p.Asp8Tyr), rs764873714, ClinGen CA1417588, cosmic curated COSV55288, ClinVar RCV002586430, REVEL 0.46, ESM-1b 1.00, Uncertain significance, not provided
- E10* (p.Glu10Ter), cosmic curated COSV55290
- V11EfsX24, rs863223326, Pathogenic
- V12I (p.Val12Ile), ExAC rs766117275, gnomAD rs766117275, REVEL 0.60, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- G14R (p.Gly14Arg), cosmic curated COSV99687, ESM-1b 1.00, AlphaMissense 0.99
- G14S (p.Gly14Ser), ExAC rs773037367, TOPMed rs773037367, gnomAD rs773037367, REVEL 0.65, ESM-1b 0.00
- G14V (p.Gly14Val), rs2150960177, ClinGen CA345003456, ClinVar RCV001947906, Ensembl rs2150960177, REVEL 0.76, ESM-1b 1.00, Uncertain significance, not provided
- R15* (p.Arg15Ter), rs192681330, ClinGen CA38521798, ClinVar RCV003074910, 1000Genomes rs192681330, CADD 38.00, Pathogenic
- R15Q (p.Arg15Gln), rs767247360, ExAC rs767247360, gnomAD rs767247360, REVEL 0.63, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- W16* (p.Trp16Ter), gnomAD rs1411225492, CADD 37.00
- P17A (p.Pro17Ala), 1000Genomes rs188150385, ExAC rs188150385, gnomAD rs188150385, ESM-1b 1.00, AlphaMissense 0.85
- P17S (p.Pro17Ser), 1000Genomes rs188150385, ExAC rs188150385, gnomAD rs188150385, REVEL 0.80, ESM-1b 0.00
- S19G (p.Ser19Gly), ExAC rs774206199, gnomAD rs774206199, REVEL 0.75, ESM-1b 1.00
- S19N (p.Ser19Asn), gnomAD rs1408381788, REVEL 0.57, ESM-1b 1.00
- S20L (p.Ser20Leu), rs1190304682, gnomAD rs1190304682, REVEL 0.36, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- L21F (p.Leu21Phe), gnomAD rs1355280287, REVEL 0.61, ESM-1b 1.00
- Y22C (p.Tyr22Cys), ExAC rs768631027, gnomAD rs768631027, REVEL 0.85, ESM-1b 1.00
- Y23C (p.Tyr23Cys), ExAC rs749442728, TOPMed rs749442728, gnomAD rs749442728, REVEL 0.82, ESM-1b 1.00
- Y23F (p.Tyr23Phe), ExAC rs749442728, TOPMed rs749442728, gnomAD rs749442728, REVEL 0.44, ESM-1b 0.67
- E24K (p.Glu24Lys), NCI-TCGA Cosmic COSV5528, cosmic curated COSV55287, ESM-1b 1.00, AlphaMissense 0.57, Variant assessed as somatic; moderate impact.
- V25L (p.Val25Leu), gnomAD rs1464048602, ESM-1b 1.00, AlphaMissense 0.95
- E26* (p.Glu26Ter), cosmic curated COSV99687
- E26G (p.Glu26Gly), gnomAD rs1268100510, REVEL 0.53, ESM-1b 1.00
- E26V (p.Glu26Val), cosmic curated COSV99687, REVEL 0.22, ESM-1b 0.86
- I27V (p.Ile27Val), gnomAD rs1214241760, REVEL 0.26, ESM-1b 0.00
- L28M (p.Leu28Met), rs2096133915, ClinGen CA345003202, ClinVar RCV003818594, TOPMed rs2096133915, REVEL 0.26, ESM-1b 0.00, Uncertain significance, not provided
- H30Y (p.His30Tyr), rs2096133891, ClinGen CA345003150, ClinVar RCV003842566, Ensembl rs2096133891, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not provided
- D31N (p.Asp31Asn), ESP rs149920625, ExAC rs149920625, TOPMed rs149920625, gnomAD rs149920625, REVEL 0.43, ESM-1b 0.00
- S32N (p.Ser32Asn), gnomAD rs1382928751, REVEL 0.16, ESM-1b 0.09
- T33A (p.Thr33Ala), rs200756121, ClinGen CA1417572, ClinVar RCV000403170, ClinVar RCV002059447, REVEL 0.22, ESM-1b 0.00, Conflicting interpretations, not provided; Greenberg dysplasia
- T33N (p.Thr33Asn), cosmic curated COSV99687, REVEL 0.23, ESM-1b 0.00
- S34A (p.Ser34Ala), rs2527841983, ClinGen CA345003051, ClinVar RCV002955248, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S34F (p.Ser34Phe), ExAC rs747525564, gnomAD rs747525564, REVEL 0.41, ESM-1b 1.00
- Q35K (p.Gln35Lys), cosmic curated COSV55289, ESM-1b 0.00, AlphaMissense 0.10
- L36F (p.Leu36Phe), ExAC rs778289657, gnomAD rs778289657, REVEL 0.56, ESM-1b 0.61
- L36P (p.Leu36Pro), TOPMed rs1387958612, gnomAD rs1387958612, REVEL 0.68, ESM-1b 1.00
- T38A (p.Thr38Ala), TOPMed rs1042815153, gnomAD rs1042815153, REVEL 0.39, ESM-1b 0.48, Uncertain significance, not provided
- T38I (p.Thr38Ile), rs555819295, ClinGen CA38521712, ClinVar RCV001811833, ExAC rs555819295, REVEL 0.54, ESM-1b 1.00, Uncertain significance, not provided
- T38N (p.Thr38Asn), ExAC rs555819295, TOPMed rs555819295, gnomAD rs555819295, REVEL 0.26, ESM-1b 1.00, Uncertain significance, not provided
- T38S (p.Thr38Ser), TOPMed rs1042815153, gnomAD rs1042815153, REVEL 0.40, ESM-1b 0.00
- K40N (p.Lys40Asn), rs2527841815, cosmic curated COSV55289, ClinGen CA345002914, ClinVar RCV002761872, ESM-1b 1.00, AlphaMissense 0.75, Uncertain significance, Inborn genetic diseases
- K40R (p.Lys40Arg), ExAC rs755810631, TOPMed rs755810631, gnomAD rs755810631, REVEL 0.23, ESM-1b 0.00
- Y41C (p.Tyr41Cys), gnomAD rs1320764205, REVEL 0.85, ESM-1b 1.00
- Y41H (p.Tyr41His), Ensembl rs2096133698, REVEL 0.81, ESM-1b 1.00
- K42R (p.Lys42Arg), TOPMed rs1249866637, ESM-1b 0.84, AlphaMissense 0.11
- G44R (p.Gly44Arg), TOPMed rs1481655481, gnomAD rs1481655481, cosmic curated COSV10505, REVEL 0.73, ESM-1b 1.00
- T45I (p.Thr45Ile), TOPMed rs2096133653, REVEL 0.67, ESM-1b 1.00
- E46A (p.Glu46Ala), ExAC rs767302539, gnomAD rs767302539, REVEL 0.62, ESM-1b 1.00
- E48* (p.Glu48Ter), cosmic curated COSV10437
- E48A (p.Glu48Ala), NCI-TCGA Cosmic COSV5528, cosmic curated COSV55289, ESM-1b 1.00, AlphaMissense 0.15, Variant assessed as somatic; moderate impact.
- E48K (p.Glu48Lys), TOPMed rs762108686, gnomAD rs762108686, ESM-1b 1.00, AlphaMissense 0.27
- E48Q (p.Glu48Gln), TOPMed rs762108686, gnomAD rs762108686, REVEL 0.25, ESM-1b 1.00
- L49* (p.Leu49Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L49S (p.Leu49Ser), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- L49V (p.Leu49Val), gnomAD rs1448407807, REVEL 0.41, ESM-1b 0.29
- E51K (p.Glu51Lys), rs1177590790, ClinGen CA345002718, ClinVar RCV001923375, TOPMed rs1177590790, REVEL 0.63, ESM-1b 1.00, Uncertain significance, not provided
- N52K (p.Asn52Lys), TOPMed rs920973479, gnomAD rs920973479, NCI-TCGA Cosmic COSV9968, cosmic curated COSV99687, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not provided
- N52S (p.Asn52Ser), NCI-TCGA TCGA novel, REVEL 0.29, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D53G (p.Asp53Gly), rs2527841563, ClinGen CA345002654, ClinVar RCV002824983, ESM-1b 1.00, AlphaMissense 0.86, Uncertain significance, not provided
- I54F (p.Ile54Phe), ExAC rs761536767, gnomAD rs761536767, REVEL 0.75, ESM-1b 1.00
- I54V (p.Ile54Val), ExAC rs761536767, gnomAD rs761536767, REVEL 0.33, ESM-1b 0.00
- P56S (p.Pro56Ser), TOPMed rs1254466472, gnomAD rs1254466472, REVEL 0.28, ESM-1b 0.00
- P56T (p.Pro56Thr), TOPMed rs1254466472, gnomAD rs1254466472, REVEL 0.24, ESM-1b 0.95
- S59F (p.Ser59Phe), NCI-TCGA Cosmic COSV5529, cosmic curated COSV55290, ESM-1b 0.20, AlphaMissense 0.25, Variant assessed as somatic; moderate impact.
- F60L (p.Phe60Leu), ExAC rs763775687, gnomAD rs763775687, REVEL 0.43, ESM-1b 0.00
- R63K (p.Arg63Lys), gnomAD rs924146540, NCI-TCGA TCGA novel, REVEL 0.37, ESM-1b 0.00, Variant assessed as somatic; high impact.
- R63M (p.Arg63Met), NCI-TCGA TCGA novel, ESM-1b 0.93, AlphaMissense 0.59, Variant assessed as somatic; moderate impact.
- R63S (p.Arg63Ser), NCI-TCGA TCGA novel, REVEL 0.54, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G65C (p.Gly65Cys), ExAC rs765365854, gnomAD rs765365854, REVEL 0.30, ESM-1b 0.86
- G65D (p.Gly65Asp), cosmic curated COSV55288, ESM-1b 0.00, AlphaMissense 0.41, Uncertain significance, Inborn genetic diseases
- G65S (p.Gly65Ser), ExAC rs765365854, gnomAD rs765365854, ESM-1b 0.00, AlphaMissense 0.06
- G66D (p.Gly66Asp), gnomAD rs2096128958, REVEL 0.32, ESM-1b 0.00
- G66S (p.Gly66Ser), ExAC rs776841930, gnomAD rs776841930, REVEL 0.22, ESM-1b 0.00
- S67L (p.Ser67Leu), gnomAD rs2096128936, REVEL 0.53, ESM-1b 0.00
- S67P (p.Ser67Pro), gnomAD rs1393957671, REVEL 0.47, ESM-1b 0.00
- S67T (p.Ser67Thr), gnomAD rs1393957671, REVEL 0.41, ESM-1b 0.00
- S69C (p.Ser69Cys), ESP rs369299493, ExAC rs369299493, TOPMed rs369299493, gnomAD rs369299493, REVEL 0.60, ESM-1b 0.86, Uncertain significance
- S69F (p.Ser69Phe), rs369299493, ClinGen CA1417537, ClinVar RCV000280387, ClinVar RCV001850542, REVEL 0.60, ESM-1b 0.47, Uncertain significance, Inborn genetic diseases; not provided; Greenberg dysplasia
- S70T (p.Ser70Thr), TOPMed rs1462087829, gnomAD rs1462087829, REVEL 0.45, ESM-1b 0.00
- S71F (p.Ser71Phe), TOPMed rs927660579, REVEL 0.62, ESM-1b 0.84
- P72L (p.Pro72Leu), rs1367356844, ClinGen CA345001759, NCI-TCGA Cosmic COSV9968, cosmic curated COSV99687, REVEL 0.60, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- P72S (p.Pro72Ser), cosmic curated COSV10505, Ensembl rs2150958387, REVEL 0.61, ESM-1b 0.00
- S73A (p.Ser73Ala), ExAC rs760953170, gnomAD rs760953170, REVEL 0.25, ESM-1b 0.00
- S73C (p.Ser73Cys), rs773644529, ClinGen CA345001741, ClinVar RCV002278768, ExAC rs773644529, REVEL 0.54, ESM-1b 1.00, Uncertain significance, Connective tissue disorder
- S73F (p.Ser73Phe), ExAC rs773644529, gnomAD rs773644529, REVEL 0.54, ESM-1b 0.97, Uncertain significance
- R74* (p.Arg74Ter), NCI-TCGA Cosmic COSV5529, cosmic curated COSV55291, Variant assessed as somatic; high impact.
- R74T (p.Arg74Thr), TOPMed rs978293896, REVEL 0.63, ESM-1b 0.00
- R75C (p.Arg75Cys), rs553554966, ClinGen CA1417534, cosmic curated COSV10880, ClinVar RCV001337895, REVEL 0.61, ESM-1b 1.00, Uncertain significance, not provided
- R75G (p.Arg75Gly), ExAC rs553554966, TOPMed rs553554966, gnomAD rs553554966, REVEL 0.59, ESM-1b 0.00, Uncertain significance
- R75H (p.Arg75His), rs755984972, ClinGen CA1417533, ClinVar RCV001988670, ClinVar RCV005592354, REVEL 0.59, ESM-1b 0.32, Uncertain significance, Inborn genetic diseases; not provided
- R76Q (p.Arg76Gln), rs749991297, ClinGen CA1417532, cosmic curated COSV55287, ClinVar RCV001811915, REVEL 0.39, ESM-1b 0.07, Uncertain significance, not provided
- R76X, rs869312905, Pathogenic
- S78R (p.Ser78Arg), 1000Genomes rs539965123, REVEL 0.46, ESM-1b 0.00
- R79* (p.Arg79Ter), rs1363715209, ClinGen CA345001573, cosmic curated COSV55289, ClinVar RCV002221980, CADD 35.00, Likely pathogenic
- R79Q (p.Arg79Gln), rs150911670, ClinGen CA1417531, cosmic curated COSV55291, ClinVar RCV003875154, REVEL 0.42, ESM-1b 0.65, Uncertain significance, Inborn genetic diseases; not provided
- S80* (p.Ser80Ter), cosmic curated COSV55288
- R81K (p.Arg81Lys), TOPMed rs2096128790, REVEL 0.42, ESM-1b 0.29
- S82* (p.Ser82Ter), gnomAD rs1197749961
- S82P (p.Ser82Pro), TOPMed rs917913308, gnomAD rs917913308, REVEL 0.49, ESM-1b 1.00
- R83C (p.Arg83Cys), rs745448849, ClinGen CA1417530, ClinVar RCV003864921, ExAC rs745448849, REVEL 0.48, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided
- R83G (p.Arg83Gly), ExAC rs745448849, TOPMed rs745448849, gnomAD rs745448849, REVEL 0.43, ESM-1b 0.14, Uncertain significance, not provided
- R83H (p.Arg83His), rs780648797, ClinGen CA1417529, ClinVar RCV002719863, ClinVar RCV003548966, REVEL 0.43, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided
- R83S (p.Arg83Ser), ExAC rs745448849, TOPMed rs745448849, gnomAD rs745448849, REVEL 0.39, ESM-1b 0.03, Uncertain significance
- S84C (p.Ser84Cys), ExAC rs751124930, TOPMed rs751124930, gnomAD rs751124930, REVEL 0.47, ESM-1b 1.00
- S84F (p.Ser84Phe), cosmic curated COSV10808, ExAC rs751124930, TOPMed rs751124930, gnomAD rs751124930, REVEL 0.46, ESM-1b 1.00
- R85* (p.Arg85Ter), TOPMed rs1293819920, gnomAD rs1293819920
- R85G (p.Arg85Gly), TOPMed rs1293819920, gnomAD rs1293819920, REVEL 0.47, ESM-1b 0.00
- R85P (p.Arg85Pro), ExAC rs758063579, TOPMed rs758063579, gnomAD rs758063579, REVEL 0.38, ESM-1b 0.00, Uncertain significance
- R85Q (p.Arg85Gln), rs758063579, ClinGen CA1417525, ClinVar RCV001097085, ExAC rs758063579, REVEL 0.26, ESM-1b 0.23, Uncertain significance, Greenberg dysplasia
- S86F (p.Ser86Phe), cosmic curated COSV10505, ESM-1b 1.00, AlphaMissense 0.76
- S86P (p.Ser86Pro), Ensembl rs1050905510, ESM-1b 1.00, AlphaMissense 0.70
- S86Y (p.Ser86Tyr), Ensembl rs2096128678, REVEL 0.56, ESM-1b 1.00
- P87L (p.Pro87Leu), TOPMed rs2096128659, ESM-1b 0.00, AlphaMissense 0.57
- P87S (p.Pro87Ser), NCI-TCGA TCGA novel, REVEL 0.62, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G88R (p.Gly88Arg), ExAC rs754965227, TOPMed rs754965227, gnomAD rs754965227, REVEL 0.52, ESM-1b 0.00, Uncertain significance
- G88S (p.Gly88Ser), rs754965227, ClinGen CA1417522, ClinVar RCV001811885, ClinVar RCV004988753, REVEL 0.45, ESM-1b 0.00, Uncertain significance, not provided
- R89* (p.Arg89Ter), ExAC rs754015696, gnomAD rs754015696, CADD 37.00
- R89L (p.Arg89Leu), ExAC rs766513028, TOPMed rs766513028, gnomAD rs766513028, REVEL 0.65, ESM-1b 0.00
- R89Q (p.Arg89Gln), ExAC rs766513028, TOPMed rs766513028, gnomAD rs766513028, REVEL 0.52, ESM-1b 0.00
- P90Q (p.Pro90Gln), cosmic curated COSV55291, gnomAD rs1323238325, REVEL 0.10, ESM-1b 0.00
- P90S (p.Pro90Ser), cosmic curated COSV55291, REVEL 0.10, ESM-1b 0.00
- P91H (p.Pro91His), ExAC rs773238630, gnomAD rs773238630, ESM-1b 0.00, AlphaMissense 0.12
- P91L (p.Pro91Leu), cosmic curated COSV55287, REVEL 0.16, ESM-1b 0.00
- P91S (p.Pro91Ser), rs201003932, ClinGen CA1417518, ClinVar RCV000925383, ClinVar RCV001102490, REVEL 0.23, ESM-1b 0.00, Conflicting interpretations, not provided; Greenberg dysplasia; Regressive spondylometaphyseal dysplasia
- K92E (p.Lys92Glu), rs1170157436, ClinGen CA345001331, ClinVar RCV002293931, TOPMed rs1170157436, ESM-1b 0.00, AlphaMissense 0.30, Uncertain significance, not provided
- K92T (p.Lys92Thr), TOPMed rs1390400468, ESM-1b 0.00, AlphaMissense 0.23
- S93G (p.Ser93Gly), Ensembl rs1575230183, REVEL 0.14, ESM-1b 0.00
- A94G (p.Ala94Gly), cosmic curated COSV55287, ESM-1b 0.00, AlphaMissense 0.07
- A94P (p.Ala94Pro), Ensembl rs1575230172, ESM-1b 0.00, AlphaMissense 0.08
- R95C (p.Arg95Cys), rs11551873, ClinGen CA1417516, ClinVar RCV000712171, ClinVar RCV002534504, REVEL 0.55, ESM-1b 0.65, Uncertain significance, Inborn genetic diseases; not provided
- R95H (p.Arg95His), rs371428900, ClinGen CA1417515, cosmic curated COSV99687, ClinVar RCV001946184, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Greenberg dysplasia; not provided; Inborn genetic diseases
- R95L (p.Arg95Leu), ESP rs371428900, ExAC rs371428900, TOPMed rs371428900, gnomAD rs371428900, REVEL 0.40, ESM-1b 0.00, Uncertain significance
- R96* (p.Arg96Ter), cosmic curated COSV99687, CADD 36.00
- R96L (p.Arg96Leu), ExAC rs769191817, TOPMed rs769191817, gnomAD rs769191817, REVEL 0.40, ESM-1b 0.00, Uncertain significance
- R96P (p.Arg96Pro), ExAC rs769191817, TOPMed rs769191817, gnomAD rs769191817, REVEL 0.28, ESM-1b 0.00, Uncertain significance
- R96Q (p.Arg96Gln), rs769191817, ClinGen CA1417513, ClinVar RCV001102489, ClinVar RCV002556056, REVEL 0.32, ESM-1b 0.00, Uncertain significance, not provided; Greenberg dysplasia
- S97A (p.Ser97Ala), NCI-TCGA Cosmic COSV5528, cosmic curated COSV55288, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- S97P (p.Ser97Pro), ExAC rs776142084, gnomAD rs776142084, REVEL 0.27, ESM-1b 0.00
- A98S (p.Ala98Ser), rs770390134, ClinGen CA1417510, ClinVar RCV002756539, ExAC rs770390134, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- S99F (p.Ser99Phe), NCI-TCGA Cosmic COSV5528, cosmic curated COSV55288, ESM-1b 0.17, AlphaMissense 0.19, Variant assessed as somatic; moderate impact.
- A100P (p.Ala100Pro), TOPMed rs1438793970, gnomAD rs1438793970, REVEL 0.39, ESM-1b 0.00
- H102Q (p.His102Gln), 1000Genomes rs199784853, ExAC rs199784853, TOPMed rs199784853, gnomAD rs199784853, REVEL 0.22, ESM-1b 0.00
- H102Y (p.His102Tyr), Ensembl rs936963925, ESM-1b 0.00, AlphaMissense 0.07
- A104T (p.Ala104Thr), cosmic curated COSV10808, ESM-1b 0.00, AlphaMissense 0.07
- D105E (p.Asp105Glu), gnomAD rs1308755479, REVEL 0.15, ESM-1b 0.00
- D105N (p.Asp105Asn), cosmic curated COSV10808, 1000Genomes rs557489420, ExAC rs557489420, TOPMed rs557489420, REVEL 0.21, ESM-1b 0.00
- I106T (p.Ile106Thr), Ensembl rs2096128416, REVEL 0.34, ESM-1b 0.00
- I106V (p.Ile106Val), 1000Genomes rs200648839, ExAC rs200648839, TOPMed rs200648839, gnomAD rs200648839, REVEL 0.19, ESM-1b 0.00
- A109G (p.Ala109Gly), 1000Genomes rs568717962, ExAC rs568717962, TOPMed rs568717962, gnomAD rs568717962, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- A109S (p.Ala109Ser), NCI-TCGA Cosmic COSV5528, cosmic curated COSV55287, REVEL 0.08, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A109T (p.Ala109Thr), cosmic curated COSV10505, ExAC rs778823931, gnomAD rs778823931, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A109V (p.Ala109Val), 1000Genomes rs568717962, ExAC rs568717962, TOPMed rs568717962, gnomAD rs568717962, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not provided
- R110T (p.Arg110Thr), gnomAD rs1215691620, REVEL 0.22, ESM-1b 0.00
- R111K (p.Arg111Lys), rs766568195, ClinGen CA1417502, ClinVar RCV004410315, ExAC rs766568195, REVEL 0.14, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- R111S (p.Arg111Ser), ExAC rs756086565, gnomAD rs756086565, ESM-1b 0.00, AlphaMissense 0.20
- E112D (p.Glu112Asp), TOPMed rs1344726084, gnomAD rs1344726084, REVEL 0.14, ESM-1b 0.00
- E112K (p.Glu112Lys), Ensembl rs1575230074, ESM-1b 0.00, AlphaMissense 0.09
- V113M (p.Val113Met), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- E114K (p.Glu114Lys), cosmic curated COSV10723, NCI-TCGA TCGA novel, gnomAD rs2096128363, REVEL 0.43, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K116R (p.Lys116Arg), TOPMed rs2096128360, ESM-1b 0.00, AlphaMissense 0.08
- T118I (p.Thr118Ile), rs138380180, ClinGen CA38520312, ClinVar RCV001102487, ESP rs138380180, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Greenberg dysplasia
- P119L (p.Pro119Leu), rs137852605, ClinGen CA120512, cosmic curated COSV55289, ClinVar RCV000010138, REVEL 0.67, ESM-1b 0.00, Conflicting interpretations, not provided
- P119S (p.Pro119Ser), cosmic curated COSV55289, REVEL 0.61, ESM-1b 0.00
- L120P (p.Leu120Pro), cosmic curated COSV55290, ESM-1b 0.00, AlphaMissense 0.23
- I121T (p.Ile121Thr), TOPMed rs2096128330, ESM-1b 0.00, AlphaMissense 0.10
- I121V (p.Ile121Val), Ensembl rs1252909629, ESM-1b 0.00, AlphaMissense 0.06
Public LBR analysis runs
- LBR analysis run — LBR (1,020 variants) — completed 2026-05-15