LAMB3 (Laminin subunit beta-3) variants and mutations
LAMB3 (also known as Laminin subunit beta-3) is a human protein-coding gene encoding a laminin subunit beta-3 protein. It contributes the beta3 chain of laminin-332, an essential ligand for hemidesmosomal adhesion at the epidermal basement membrane. Biallelic loss-of-function variants cause junctional epidermolysis bullosa, and selected variants can also cause amelogenesis imperfecta. This analysis covers 2,045 LAMB3 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa, Herlitz type, and junctional epidermolysis bullosa Herlitz type. Example LAMB3 variants include M1?, M1I, and M1L.
Variant analysis overview
- Gene: LAMB3
- Protein: Laminin subunit beta-3
- UniProt accession: Q13751
- Organism: Homo sapiens
- Variants analyzed: 2045
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 1,831 unspecified-consequence records; 97 missense variants; 4 stop-gained variants; 93 synonymous variants; 12 frameshift variants; 3 in-frame deletions; 1 incomplete terminal codon variant; 3 splice-region variants; 3 substitution
- Prediction scores: 1,439 variants have prediction scores (70% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa, Herlitz type, junctional epidermolysis bullosa Herlitz type, amelogenesis imperfecta type 1A, Generalized junctional epidermolysis bullosa, non-Herlitz type, junctional epidermolysis bullosa, Hypoplastic amelogenesis imperfecta, junctional epidermolysis bullosa inversa, localized junctional epidermolysis bullosa, non-Herlitz type, eye disorder, epidermolysis bullosa, Abnormality of the skin.
Protein structure and variant hotspots
- Protein features: 7 domains; 3 post-translational modification sites.
- Structural context: 876 variants have structural context.
- PTM context: 5 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, MaveDB, LitVar.
Notable LAMB3 variants
Examples include M1?, M1I, M1L, R2S, P3Q, P3R, P3S, F4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV10062
- M1I (p.Met1Ile), rs766177957, ClinGen CA1376145, ClinVar RCV003561290, ClinVar RCV005429437, MetaLR 0.48, MetaSVM -0.04, Likely pathogenic, Junctional epidermolysis bullosa; not provided
- M1L (p.Met1Leu), rs2102467762, ClinGen CA344566482, ClinVar RCV001823693, MetaLR 0.33, MetaSVM -0.59, Likely pathogenic, Junctional epidermolysis bullosa gravis of Herlitz
- R2S (p.Arg2Ser), cosmic curated COSV61918
- P3Q (p.Pro3Gln), ExAC rs760672832, TOPMed rs760672832, gnomAD rs760672832, REVEL 0.05, CADD 14.80
- P3R (p.Pro3Arg), ExAC rs760672832, TOPMed rs760672832, gnomAD rs760672832, REVEL 0.07, CADD 14.30
- P3S (p.Pro3Ser), Ensembl rs2076561403
- F4L (p.Phe4Leu), rs116218572, ClinGen CA1376143, ClinVar RCV002655029, ClinVar RCV004072089, REVEL 0.06, CADD 8.36, Conflicting interpretations, not provided; Inborn genetic diseases
- L6F (p.Leu6Phe), cosmic curated COSV61918, ESP rs113185295, ExAC rs113185295, TOPMed rs113185295, REVEL 0.06, CADD 17.50, Uncertain significance, Inborn genetic diseases
- C8S (p.Cys8Ser), rs1450626807, gnomAD rs1450626807, REVEL 0.07, CADD 12.00, Variant assessed as somatic; moderate impact.
- A10V (p.Ala10Val), gnomAD rs1429374566, REVEL 0.03, CADD 21.50
- G13D (p.Gly13Asp), rs746335563, ClinGen CA344566391, NCI-TCGA Cosmic COSV6192, cosmic curated COSV61920, REVEL 0.13, CADD 16.70, Uncertain significance, Inborn genetic diseases
- G13V (p.Gly13Val), ExAC rs746335563, TOPMed rs746335563, gnomAD rs746335563, REVEL 0.12, CADD 17.60, Uncertain significance
- L14V (p.Leu14Val), TOPMed rs1487033447, gnomAD rs1487033447, REVEL 0.03, CADD 9.65
- H16Q (p.His16Gln), Ensembl rs2076552945
- H16R (p.His16Arg), TOPMed rs1245735034, gnomAD rs1245735034, REVEL 0.02, CADD 5.45
- A17S (p.Ala17Ser), gnomAD rs1236140290, REVEL 0.15, CADD 22.40
- A17T (p.Ala17Thr), gnomAD rs1236140290, Uncertain significance, Inborn genetic diseases
- A17V (p.Ala17Val), TOPMed rs1464376564, gnomAD rs1464376564, REVEL 0.16, CADD 23.20
- Q18* (p.Gln18Ter), rs777231178, ClinGen CA1376115, ClinVar RCV001952543, ExAC rs777231178, Pathogenic
- Q18H (p.Gln18His), cosmic curated COSV61916
- Q19* (p.Gln19Ter), rs200672750, ClinGen CA344566357, ClinVar RCV000795875, 1000Genomes rs200672750, CADD 37.00, Pathogenic
- Q19E (p.Gln19Glu), 1000Genomes rs200672750, ExAC rs200672750, TOPMed rs200672750, gnomAD rs200672750, REVEL 0.04, CADD 16.80, Pathogenic
- Q19K (p.Gln19Lys), rs200672750, ClinGen CA1376113, ClinVar RCV002729722, ClinVar RCV005099096, REVEL 0.06, CADD 18.90, Uncertain significance, not provided; Inborn genetic diseases
- A20D (p.Ala20Asp), cosmic curated COSV10591, TOPMed rs1425528140, gnomAD rs1425528140, REVEL 0.13, CADD 18.30
- A20T (p.Ala20Thr), gnomAD rs2076552550, REVEL 0.05, CADD 18.90
- A20V (p.Ala20Val), TOPMed rs1425528140, gnomAD rs1425528140, REVEL 0.05, CADD 18.90, Uncertain significance, Inborn genetic diseases
- C21S (p.Cys21Ser), Ensembl rs751818569, REVEL 0.69, CADD 26.80
- C21Y (p.Cys21Tyr), gnomAD rs1265014760, REVEL 0.64, CADD 26.10
- S22F (p.Ser22Phe), ESP rs147620922, ExAC rs147620922, TOPMed rs147620922, gnomAD rs147620922, REVEL 0.29, CADD 27.20, Uncertain significance, Inborn genetic diseases
- S22Y (p.Ser22Tyr), ESP rs147620922, ExAC rs147620922, TOPMed rs147620922, gnomAD rs147620922, REVEL 0.29, CADD 26.30
- R23C (p.Arg23Cys), rs115191959, ClinGen CA1376110, ClinVar RCV000294349, ClinVar RCV000892333, REVEL 0.29, CADD 28.70, Likely benign, Junctional epidermolysis bullosa; Junctional epidermolysis bullosa gravis of Her
- R23H (p.Arg23His), rs139480015, ClinGen CA1376108, cosmic curated COSV10610, ClinVar RCV000894212, REVEL 0.07, CADD 19.20, Conflicting interpretations, Inborn genetic diseases; not provided
- R23L (p.Arg23Leu), ESP rs139480015, ExAC rs139480015, TOPMed rs139480015, gnomAD rs139480015, REVEL 0.24, CADD 20.80, Likely benign
- G24E (p.Gly24Glu), gnomAD rs1300931830, REVEL 0.53, CADD 25.80
- G24V (p.Gly24Val), cosmic curated COSV10062
- G24W (p.Gly24Trp), ExAC rs750218343, TOPMed rs750218343, gnomAD rs750218343, REVEL 0.54, CADD 27.80
- A25T (p.Ala25Thr), TOPMed rs1451743138, gnomAD rs1451743138, REVEL 0.17, CADD 26.20
- A25V (p.Ala25Val), rs781227957, ClinGen CA1376106, ClinVar RCV002713633, ExAC rs781227957, REVEL 0.31, CADD 27.90, Uncertain significance, Inborn genetic diseases
- C26S (p.Cys26Ser), TOPMed rs2076552086, gnomAD rs2076552086, REVEL 0.87, CADD 25.80
- Y27* (p.Tyr27Ter), rs2464954277, ClinGen CA344566307, ClinVar RCV002309202, Likely pathogenic
- Y27C (p.Tyr27Cys), TOPMed rs1385430585
- Y27H (p.Tyr27His), rs757278127, ClinGen CA1376105, ClinVar RCV001098929, ClinVar RCV005348314, REVEL 0.66, CADD 27.70, Uncertain significance, Inborn genetic diseases; Junctional epidermolysis bullosa
- P28S (p.Pro28Ser), ExAC rs751050188, gnomAD rs751050188
- P29H (p.Pro29His), gnomAD rs2076551851, REVEL 0.66, CADD 26.20
- P29S (p.Pro29Ser), ExAC rs763767212, TOPMed rs763767212, gnomAD rs763767212, REVEL 0.39, CADD 23.70, Uncertain significance, not provided
- V30A (p.Val30Ala), 1000Genomes rs116643086, ESP rs116643086, ExAC rs116643086, TOPMed rs116643086, REVEL 0.13, CADD 12.80
- G31E (p.Gly31Glu), TOPMed rs901665561, gnomAD rs901665561, REVEL 0.69, CADD 24.80, Uncertain significance, Inborn genetic diseases
- G31V (p.Gly31Val), cosmic curated COSV10062
- L33P (p.Leu33Pro), Ensembl rs2076551701
- L34P (p.Leu34Pro), Ensembl rs1216357678
- V35A (p.Val35Ala), ExAC rs765484485, gnomAD rs765484485, REVEL 0.30, CADD 22.90
- V35I (p.Val35Ile), TOPMed rs948421129, REVEL 0.15, CADD 0.37
- G36E (p.Gly36Glu), cosmic curated COSV61918
- G36W (p.Gly36Trp), cosmic curated COSV10062
- T38I (p.Thr38Ile), cosmic curated COSV61915, gnomAD rs1220277494, REVEL 0.33, CADD 22.20
- R39L (p.Arg39Leu), cosmic curated COSV99049
- R39P (p.Arg39Pro), ESP rs146125956, ExAC rs146125956, TOPMed rs146125956, gnomAD rs146125956, REVEL 0.23, CADD 17.20, Likely benign
- R39Q (p.Arg39Gln), rs146125956, ClinGen CA1376097, cosmic curated COSV61916, NCI-TCGA Cosmic COSV9904, REVEL 0.15, CADD 8.25, Conflicting interpretations, Inborn genetic diseases; not provided
- R39W (p.Arg39Trp), ExAC rs759900167, TOPMed rs759900167, gnomAD rs759900167, REVEL 0.22, CADD 29.40, Uncertain significance, Inborn genetic diseases
- F40L (p.Phe40Leu), NCI-TCGA Cosmic COSV6191, cosmic curated COSV61915, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L41F (p.Leu41Phe), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, Ensembl rs2076551464, REVEL 0.72, CADD 26.00, Variant assessed as somatic; moderate impact.
- R42* (p.Arg42Ter), rs80356680, ClinGen CA341329, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, CADD 38.00, Pathogenic
- R42Q (p.Arg42Gln), rs761173046, ClinGen CA1376096, ClinVar RCV002596212, ExAC rs761173046, REVEL 0.14, CADD 11.20, Uncertain significance, not provided
- R42X, rs80356680, Pathogenic
- A43V (p.Ala43Val), gnomAD rs1031886868, REVEL 0.81, CADD 28.20, Uncertain significance, Inborn genetic diseases
- S44L (p.Ser44Leu), cosmic curated COSV10650, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S45A (p.Ser45Ala), rs796051883, ClinGen CA203919, ClinVar RCV000186216, Ensembl rs796051883, AlphaMissense 0.35, MetaLR 0.50, Uncertain significance, Autism
- S45C (p.Ser45Cys), gnomAD rs1320145336
- T50S (p.Thr50Ser), gnomAD rs1244998532, REVEL 0.20, CADD 23.30
- K51T (p.Lys51Thr), gnomAD rs2076550998, REVEL 0.47, CADD 24.50
- E53V (p.Glu53Val), cosmic curated COSV61919
- T54N (p.Thr54Asn), TOPMed rs1159982538
- C56* (p.Cys56Ter), cosmic curated COSV10818
- T57I (p.Thr57Ile), rs748289290, ClinGen CA1376093, ClinVar RCV002972898, ExAC rs748289290, REVEL 0.30, CADD 26.50, Uncertain significance, Inborn genetic diseases
- Q58S (p.Gln58Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E61* (p.Glu61Ter), TOPMed rs765935706, gnomAD rs765935706
- E61D (p.Glu61Asp), ExAC rs745623000, TOPMed rs745623000, gnomAD rs745623000, REVEL 0.34, CADD 34.00
- E61K (p.Glu61Lys), TOPMed rs765935706, gnomAD rs765935706, REVEL 0.47, CADD 24.70
- W62* (p.Trp62Ter), NCI-TCGA Cosmic COSV6191, cosmic curated COSV61915, CADD 38.00, Variant assessed as somatic; high impact.
- W62R (p.Trp62Arg), ExAC rs753545651, gnomAD rs753545651, REVEL 0.23, CADD 25.00
- Q63H (p.Gln63His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M64K (p.Met64Lys), 1000Genomes rs201830202, REVEL 0.33, CADD 26.40
- K65N (p.Lys65Asn), gnomAD rs1431939630, REVEL 0.64, CADD 24.10
- K65R (p.Lys65Arg), ESP rs375522351, ExAC rs375522351, TOPMed rs375522351, gnomAD rs375522351, REVEL 0.42, CADD 24.10
- K65T (p.Lys65Thr), ESP rs375522351, ExAC rs375522351, TOPMed rs375522351, gnomAD rs375522351, REVEL 0.68, CADD 27.40, Uncertain significance, Inborn genetic diseases
- C67R (p.Cys67Arg), gnomAD rs1425157266, REVEL 0.65, CADD 25.80
- C67Y (p.Cys67Tyr), gnomAD rs2076427852, REVEL 0.37, CADD 26.20
- K68* (p.Lys68Ter), rs2076427827, ClinGen CA344597890, ClinVar RCV001264233, Ensembl rs2076427827, Likely pathogenic
- D70N (p.Asp70Asn), cosmic curated COSV61919
- S71C (p.Ser71Cys), cosmic curated COSV61916, REVEL 0.85, CADD 28.20
- S71F (p.Ser71Phe), ExAC rs756431966, TOPMed rs756431966, gnomAD rs756431966, REVEL 0.85, CADD 29.00
- R72M (p.Arg72Met), cosmic curated COSV10062
- R72S (p.Arg72Ser), cosmic curated COSV61917
- R72T (p.Arg72Thr), TOPMed rs2076427718, gnomAD rs2076427718, REVEL 0.67, CADD 25.40
- Q73* (p.Gln73Ter), rs762234799, ClinGen CA1376058, ClinVar RCV001044038, ExAC rs762234799, CADD 36.00, Pathogenic
- Q73P (p.Gln73Pro), rs1270543623, ClinGen CA344597851, ClinVar RCV002778168, AlphaMissense 0.09, MetaLR 0.16, Uncertain significance, Inborn genetic diseases
- Q73R (p.Gln73Arg), gnomAD rs1270543623, REVEL 0.12, AlphaMissense 0.09
- P74H (p.Pro74His), NCI-TCGA Cosmic COSV6191, cosmic curated COSV61916, Variant assessed as somatic; moderate impact.
- H75Q (p.His75Gln), gnomAD rs1202622488, REVEL 0.17, CADD 22.40
- H75Y (p.His75Tyr), cosmic curated COSV61919
- N76H (p.Asn76His), cosmic curated COSV61918
- Y77H (p.Tyr77His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y78C (p.Tyr78Cys), cosmic curated COSV61916, REVEL 0.23, CADD 24.00
- R81* (p.Arg81Ter), rs1064793896, ClinGen CA16617045, cosmic curated COSV10442, ClinVar RCV000485788, CADD 41.00, Pathogenic
- R81L (p.Arg81Leu), cosmic curated COSV61915
- R81P (p.Arg81Pro), rs978039540, ClinGen CA344597776, ClinVar RCV001844470, TOPMed rs978039540, REVEL 0.57, CADD 26.10, Uncertain significance, not specified
- R81Q (p.Arg81Gln), rs978039540, ClinGen CA36761961, ClinVar RCV001098928, ClinVar RCV004032045, REVEL 0.23, CADD 22.60, Uncertain significance, Inborn genetic diseases; Junctional epidermolysis bullosa
- V82I (p.Val82Ile), NCI-TCGA TCGA novel, REVEL 0.15, CADD 17.00, Variant assessed as somatic; moderate impact.
- N84S (p.Asn84Ser), gnomAD rs1296684854, REVEL 0.60, CADD 24.50
- V85L (p.Val85Leu), TOPMed rs2076427414
- A86S (p.Ala86Ser), gnomAD rs1382039871, REVEL 0.24, CADD 17.00
- S87L (p.Ser87Leu), NCI-TCGA TCGA novel, REVEL 0.42, CADD 24.70, Variant assessed as somatic; moderate impact.
- S88F (p.Ser88Phe), cosmic curated COSV61918, REVEL 0.36, CADD 23.70
- S89P (p.Ser89Pro), TOPMed rs1386179622, gnomAD rs1386179622, REVEL 0.37, CADD 24.20
- G90C (p.Gly90Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G90D (p.Gly90Asp), ExAC rs770169154, gnomAD rs770169154, REVEL 0.34, CADD 15.30
- G90S (p.Gly90Ser), ExAC rs775892223, TOPMed rs775892223, gnomAD rs775892223, REVEL 0.34, CADD 23.50, Uncertain significance, Inborn genetic diseases
- P91T (p.Pro91Thr), rs371036275, ClinGen CA10609667, ClinVar RCV000392415, ClinVar RCV006362232, REVEL 0.42, CADD 22.50, Uncertain significance, Inborn genetic diseases; Junctional epidermolysis bullosa
- M92K (p.Met92Lys), ExAC rs746748625, TOPMed rs746748625, gnomAD rs746748625, REVEL 0.20, CADD 0.40
- M92L (p.Met92Leu), TOPMed rs1455527322, gnomAD rs1455527322
- M92T (p.Met92Thr), ExAC rs746748625, TOPMed rs746748625, gnomAD rs746748625, REVEL 0.23, CADD 0.45
- M92V (p.Met92Val), TOPMed rs1455527322, gnomAD rs1455527322, REVEL 0.10, CADD 7.02
- R93C (p.Arg93Cys), cosmic curated COSV10591, ExAC rs772891857, TOPMed rs772891857, gnomAD rs772891857, REVEL 0.64, CADD 26.50
- R93H (p.Arg93His), ExAC rs771977502, TOPMed rs771977502, gnomAD rs771977502, REVEL 0.58, CADD 25.20, Uncertain significance, Inborn genetic diseases
- R93L (p.Arg93Leu), ExAC rs771977502, TOPMed rs771977502, gnomAD rs771977502, Uncertain significance
- W94* (p.Trp94Ter), rs748099677, ClinGen CA1376049, ClinVar RCV001916520, ExAC rs748099677, CADD 38.00, Pathogenic
- W94C (p.Trp94Cys), cosmic curated COSV10741
- W95* (p.Trp95Ter), rs1558163550, ClinGen CA344597582, ClinVar RCV000760426, ClinVar RCV005021148, CADD 40.00, Pathogenic
- W95G (p.Trp95Gly), Ensembl rs1571829187
- S97L (p.Ser97Leu), gnomAD rs1262228203, REVEL 0.88, CADD 29.00
- Q98K (p.Gln98Lys), cosmic curated COSV61917, REVEL 0.13, CADD 21.90
- Q98R (p.Gln98Arg), gnomAD rs1459928585, REVEL 0.38, CADD 23.30
- D100G (p.Asp100Gly), Ensembl rs2102445054, REVEL 0.12, CADD 20.20
- D100Y (p.Asp100Tyr), rs1347157076, NCI-TCGA Cosmic COSV6191, cosmic curated COSV61914, TOPMed rs1347157076, AlphaMissense 0.20, MetaLR 0.46, Variant assessed as somatic; moderate impact.
- V101L (p.Val101Leu), gnomAD rs1410688051, REVEL 0.24, CADD 19.60
- N102K (p.Asn102Lys), rs376274555, ClinGen CA344597408, ClinVar RCV004409937, TOPMed rs376274555, REVEL 0.22, CADD 14.70, Uncertain significance, Inborn genetic diseases
- P103A (p.Pro103Ala), 1000Genomes rs200105150, ExAC rs200105150, TOPMed rs200105150, gnomAD rs200105150, REVEL 0.31, CADD 22.70
- P103S (p.Pro103Ser), cosmic curated COSV61915, 1000Genomes rs200105150, ExAC rs200105150, TOPMed rs200105150, REVEL 0.28, CADD 23.20, Uncertain significance, Inborn genetic diseases
- P103T (p.Pro103Thr), 1000Genomes rs200105150, ExAC rs200105150, TOPMed rs200105150, gnomAD rs200105150, REVEL 0.37, CADD 23.10
- S105C (p.Ser105Cys), ExAC rs768605252, TOPMed rs768605252, gnomAD rs768605252, REVEL 0.69, CADD 24.40
- S105F (p.Ser105Phe), ExAC rs768605252, TOPMed rs768605252, gnomAD rs768605252, REVEL 0.33, CADD 21.00
- L106P (p.Leu106Pro), cosmic curated COSV10818
- Q107H (p.Gln107His), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, REVEL 0.73, CADD 23.30, Variant assessed as somatic; moderate impact.
- Q107K (p.Gln107Lys), gnomAD rs1384430618, REVEL 0.75, CADD 23.50
- L108M (p.Leu108Met), cosmic curated COSV10888
- L108P (p.Leu108Pro), rs1464871076, ClinGen CA344597345, ClinVar RCV001352729, TOPMed rs1464871076, AlphaMissense 0.79, MetaLR 0.75, Pathogenic, Junctional epidermolysis bullosa
- L108Q (p.Leu108Gln), TOPMed rs1464871076, gnomAD rs1464871076, REVEL 0.93, AlphaMissense 0.79, Pathogenic
- L108V (p.Leu108Val), ExAC rs748738681, REVEL 0.64, CADD 24.20
- D109N (p.Asp109Asn), gnomAD rs1184114212
- D109Y (p.Asp109Tyr), cosmic curated COSV61917
- D111G (p.Asp111Gly), rs55824996, ClinGen CA1376027, ClinVar RCV000247413, ClinVar RCV000955854, REVEL 0.47, CADD 25.50, Conflicting interpretations, Inborn genetic diseases; not provided; not specified
- D111N (p.Asp111Asn), TOPMed rs901629147, gnomAD rs901629147, REVEL 0.26, CADD 17.10, Uncertain significance, Inborn genetic diseases
- D111V (p.Asp111Val), 1000Genomes rs55824996, ESP rs55824996, ExAC rs55824996, TOPMed rs55824996, REVEL 0.66, CADD 25.20, Benign
- R112K (p.Arg112Lys), ExAC rs745569387, gnomAD rs745569387, REVEL 0.17, CADD 3.39
- R112M (p.Arg112Met), cosmic curated COSV10062
- R113G (p.Arg113Gly), ESP rs371231587, ExAC rs371231587, TOPMed rs371231587, gnomAD rs371231587, REVEL 0.23, CADD 22.80, Likely benign
- R113S (p.Arg113Ser), ESP rs199599061, ExAC rs199599061, TOPMed rs199599061, gnomAD rs199599061, REVEL 0.11, CADD 13.10, Uncertain significance, Inborn genetic diseases
- F114V (p.Phe114Val), ESP rs372620941, ExAC rs372620941, TOPMed rs372620941, gnomAD rs372620941, REVEL 0.63, CADD 23.00, Uncertain significance, Inborn genetic diseases
- Q115* (p.Gln115Ter), cosmic curated COSV10650
- Q115H (p.Gln115His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q117* (p.Gln117Ter), rs2102444886, ClinGen CA344597230, ClinVar RCV001906126, Ensembl rs2102444886, Pathogenic
- Q117H (p.Gln117His), NCI-TCGA Cosmic COSV6191, cosmic curated COSV61915, Variant assessed as somatic; moderate impact.
- E118D (p.Glu118Asp), gnomAD rs1278984475, REVEL 0.15, CADD 7.71
- E118G (p.Glu118Gly), gnomAD rs1349178674, REVEL 0.12, CADD 18.10
- V119A (p.Val119Ala), gnomAD rs1430765103, REVEL 0.53, CADD 22.90
- M120I (p.Met120Ile), gnomAD rs1337650896, REVEL 0.10, CADD 13.10
- M120T (p.Met120Thr), ExAC rs765479137, gnomAD rs765479137, REVEL 0.13, CADD 14.30
- M121T (p.Met121Thr), TOPMed rs1666945010
- E122* (p.Glu122Ter), rs2464894271, ClinGen CA344597161, ClinVar RCV002810709, Pathogenic
- E122D (p.Glu122Asp), TOPMed rs893306221, REVEL 0.15, CADD 2.42
- F123L (p.Phe123Leu), TOPMed rs1054996621, Uncertain significance, Inborn genetic diseases
- Q124* (p.Gln124Ter), rs1666944608, ClinGen CA344597132, cosmic curated COSV61919, ClinVar RCV003567086, CADD 37.00, Pathogenic
- G125A (p.Gly125Ala), 1000Genomes rs574291969, ExAC rs574291969, TOPMed rs574291969, gnomAD rs574291969, REVEL 0.13, CADD 15.30, Uncertain significance, not provided
- M127I (p.Met127Ile), cosmic curated COSV61917
- M127L (p.Met127Leu), 1000Genomes rs202025705, ExAC rs202025705, TOPMed rs202025705, gnomAD rs202025705, REVEL 0.20, CADD 1.48
- P128H (p.Pro128His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P128S (p.Pro128Ser), rs1359588651, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, gnomAD rs1359588651, REVEL 0.89, CADD 25.00, Variant assessed as somatic; moderate impact.
- P128T (p.Pro128Thr), gnomAD rs1359588651, REVEL 0.89, CADD 25.00
- A129T (p.Ala129Thr), rs1031008727, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10062, gnomAD rs1031008727, REVEL 0.65, CADD 22.70, Variant assessed as somatic; moderate impact.
Public LAMB3 analysis runs
- LAMB3 analysis run — LAMB3 (2,045 variants) — completed 2026-08-22