LRBA (P50851) variants and mutations
LRBA (also known as P50851) is a human protein-coding gene encoding a lipopolysaccharide-responsive and beige-like anchor protein. It regulates intracellular trafficking of immune proteins, including recycling and preservation of CTLA-4 in regulatory T cells. Biallelic loss-of-function variants cause immune dysregulation with autoimmunity, lymphoproliferation, recurrent infection, and inflammatory bowel disease. This analysis covers 3,609 LRBA variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes combined immunodeficiency due to LRBA deficiency, colobomatous microphthalmia-rhizomelic dysplasia syndrome, and cholelithiasis. Example LRBA variants include M1V, S3N, and S3R.
Variant analysis overview
- Gene: LRBA
- Protein: P50851
- UniProt accession: P50851
- Organism: Homo sapiens
- Variants analyzed: 3609
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 3,349 unspecified-consequence records; 3 stop lost; 6 in-frame deletions; 12 stop-gained variants; 55 synonymous variants; 161 missense variants; 16 frameshift variants; 3 in-frame insertions; 2 splice-region variants; 2 substitution
- Prediction scores: 2,297 variants have prediction scores (64% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: combined immunodeficiency due to LRBA deficiency, colobomatous microphthalmia-rhizomelic dysplasia syndrome, cholelithiasis, immunodeficiency disease, severe combined immunodeficiency due to CORO1A deficiency, gallstones, Knee pain, Abnormality of the skeletal system, placental abruption, Cholecystitis, Graves disease, Hepatomegaly.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 domains; 17 post-translational modification sites.
- Structural context: 489 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, Interaction Network Analysis, Protein Data Bank, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable LRBA variants
Examples include M1V, S3N, S3R, E4K, D5N, N6D, N6K, N6S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs752404257, ClinGen CA108439387, ClinVar RCV001060712, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- S3N (p.Ser3Asn), ExAC rs200690075, gnomAD rs200690075, MetaLR 0.28, MetaSVM -0.69
- S3R (p.Ser3Arg), ExAC rs760789351, TOPMed rs760789351, gnomAD rs760789351, MetaLR 0.20, MetaSVM -0.92
- E4K (p.Glu4Lys), TOPMed rs1579509364, MetaLR 0.18, MetaSVM -0.72
- D5N (p.Asp5Asn), cosmic curated COSV10818, ExAC rs775807371
- N6D (p.Asn6Asp), TOPMed rs1745230978
- N6K (p.Asn6Lys), ExAC rs772007816
- N6S (p.Asn6Ser), rs2546908330, ClinGen CA358611234, ClinVar RCV003038736, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- R7C (p.Arg7Cys), rs1163553946, ClinGen CA358611229, ClinVar RCV001046974, TOPMed rs1163553946, MetaLR 0.07, MetaSVM -1.09, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- R7G (p.Arg7Gly), TOPMed rs1163553946, gnomAD rs1163553946, MetaLR 0.08, MetaSVM -1.03, Uncertain significance
- R7S (p.Arg7Ser), TOPMed rs1163553946, gnomAD rs1163553946, MetaLR 0.07, MetaSVM -1.03, Uncertain significance
- P9S (p.Pro9Ser), rs1465852898, ClinGen CA358611217, ClinVar RCV001207943, TOPMed rs1465852898, MetaLR 0.09, MetaSVM -1.06, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- P9T (p.Pro9Thr), rs1465852898, ClinGen CA358611219, ClinVar RCV001882159, TOPMed rs1465852898, MetaLR 0.11, MetaSVM -0.99, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- S10F (p.Ser10Phe), NCI-TCGA TCGA novel, TOPMed rs1745228955, gnomAD rs1745228955, MetaLR 0.12, MetaSVM -0.89, Variant assessed as somatic; high impact.
- S10P (p.Ser10Pro), Ensembl rs1579509282, MetaLR 0.15, MetaSVM -0.83
- P11A (p.Pro11Ala), rs1745228616, ClinGen CA358611206, ClinVar RCV001037584, Ensembl rs1745228616, MetaLR 0.10, MetaSVM -1.01, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- P11L (p.Pro11Leu), rs925500510, ClinGen CA108439385, ClinVar RCV002798639, TOPMed rs925500510, MetaLR 0.08, MetaSVM -1.10, Uncertain significance, Inborn genetic diseases
- P11T (p.Pro11Thr), Ensembl rs1745228616, MetaLR 0.13, MetaSVM -0.93, Uncertain significance
- P12S (p.Pro12Ser), gnomAD rs1474596690, MetaLR 0.14, MetaSVM -1.00
- P12T (p.Pro12Thr), gnomAD rs1474596690, MetaLR 0.15, MetaSVM -0.98
- P13S (p.Pro13Ser), ExAC rs759669268, TOPMed rs759669268, gnomAD rs759669268, MetaLR 0.36, MetaSVM -0.80
- T14A (p.Thr14Ala), rs1200143430, ClinGen CA358611190, ClinVar RCV001226769, gnomAD rs1200143430, MetaLR 0.12, MetaSVM -1.07, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- T14P (p.Thr14Pro), gnomAD rs1200143430, Uncertain significance
- T14S (p.Thr14Ser), gnomAD rs1200143430, MetaLR 0.15, MetaSVM -1.00, Uncertain significance
- G15A (p.Gly15Ala), gnomAD rs1469892499, MetaLR 0.17, MetaSVM -0.86, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- D16N (p.Asp16Asn), cosmic curated COSV63960, gnomAD rs1271397506
- D17G (p.Asp17Gly), TOPMed rs1318944382, gnomAD rs1318944382, MetaLR 0.09, MetaSVM -1.03
- D17H (p.Asp17His), TOPMed rs1745225723
- D17V (p.Asp17Val), TOPMed rs1318944382, gnomAD rs1318944382, MetaLR 0.12, MetaSVM -1.02
- G18E (p.Gly18Glu), ExAC rs749860824, TOPMed rs749860824, gnomAD rs749860824, MetaLR 0.24, MetaSVM -0.78, Uncertain significance
- G18R (p.Gly18Arg), rs150755521, ClinGen CA3103978, cosmic curated COSV63958, ClinVar RCV000892059, MetaLR 0.12, MetaSVM -0.95, Benign, not provided; Combined immunodeficiency due to LRBA deficiency
- G18V (p.Gly18Val), rs749860824, ClinGen CA108439383, ClinVar RCV000691707, ExAC rs749860824, MetaLR 0.23, MetaSVM -0.75, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- G19R (p.Gly19Arg), Ensembl rs2149682246
- G19V (p.Gly19Val), gnomAD rs1443076037, MetaLR 0.19, MetaSVM -0.97
- G20D (p.Gly20Asp), gnomAD rs1745223311, MetaLR 0.34, MetaSVM -0.84, Uncertain significance, Inborn genetic diseases
- G21A (p.Gly21Ala), rs1745222833, ClinGen CA358611145, ClinVar RCV001294898, Ensembl rs1745222833, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- G21R (p.Gly21Arg), ExAC rs778080354, gnomAD rs778080354, MetaLR 0.19, MetaSVM -0.89
- E25G (p.Glu25Gly), gnomAD rs1355929772, MetaLR 0.09, MetaSVM -0.95
- T26N (p.Thr26Asn), TOPMed rs1745221827, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- P27A (p.Pro27Ala), rs1745221619, ClinGen CA358611107, ClinVar RCV001325746, Ensembl rs1745221619, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- P27L (p.Pro27Leu), TOPMed rs938367671, gnomAD rs938367671, MetaLR 0.13, MetaSVM -1.02
- P27R (p.Pro27Arg), TOPMed rs938367671, gnomAD rs938367671, MetaLR 0.14, MetaSVM -0.99
- T28A (p.Thr28Ala), rs201608982, ClinGen CA108439380, ClinVar RCV001884800, Ensembl rs201608982, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- T28I (p.Thr28Ile), gnomAD rs1408600058, MetaLR 0.08, MetaSVM -1.01
- T28S (p.Thr28Ser), cosmic curated COSV63963, gnomAD rs1408600058
- G30A (p.Gly30Ala), rs754377116, ClinGen CA3103972, cosmic curated COSV63958, ClinVar RCV000805654, MetaLR 0.08, MetaSVM -0.97, Uncertain significance, not provided; Combined immunodeficiency due to LRBA deficiency
- G30E (p.Gly30Glu), ExAC rs754377116, TOPMed rs754377116, gnomAD rs754377116, MetaLR 0.09, MetaSVM -0.98, Uncertain significance
- G30R (p.Gly30Arg), rs780927941, ClinGen CA3103973, ClinVar RCV001312850, ClinVar RCV006376930, MetaLR 0.14, MetaSVM -1.01, Uncertain significance, Combined immunodeficiency due to LRBA deficiency; Inborn genetic diseases
- G30W (p.Gly30Trp), NCI-TCGA Cosmic COSV6395, cosmic curated COSV63951, Variant assessed as somatic; moderate impact.
- G31D (p.Gly31Asp), TOPMed rs1745218996, MetaLR 0.15, MetaSVM -0.89
- G31S (p.Gly31Ser), ExAC rs751125528, TOPMed rs751125528, gnomAD rs751125528, MetaLR 0.14, MetaSVM -1.02, Uncertain significance, Inborn genetic diseases
- S34T (p.Ser34Thr), Ensembl rs1202255030
- L35P (p.Leu35Pro), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10084, Variant assessed as somatic; moderate impact.
- K36R (p.Lys36Arg), Ensembl rs1579508850
- P37L (p.Pro37Leu), ExAC rs764896354, gnomAD rs764896354, MetaLR 0.48, MetaSVM -0.00
- P37S (p.Pro37Ser), rs374519451, ClinGen CA3103968, ClinVar RCV001313670, ClinVar RCV004570742, MetaLR 0.43, MetaSVM -0.14, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- G38V (p.Gly38Val), rs757110699, ClinGen CA3103966, ClinVar RCV001064948, ExAC rs757110699, MetaLR 0.21, MetaSVM -0.74, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- L39F (p.Leu39Phe), NCI-TCGA Cosmic COSV6394, cosmic curated COSV63949, Variant assessed as somatic; moderate impact.
- L39H (p.Leu39His), TOPMed rs1345711760, gnomAD rs1345711760, MetaLR 0.19, MetaSVM -0.77, Uncertain significance
- L39P (p.Leu39Pro), rs1345711760, ClinGen CA358610973, ClinVar RCV000822925, TOPMed rs1345711760, MetaLR 0.18, MetaSVM -0.87, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- P40L (p.Pro40Leu), cosmic curated COSV63963, Ensembl rs1745215580
- P40S (p.Pro40Ser), ExAC rs767795951, gnomAD rs767795951
- I41M (p.Ile41Met), cosmic curated COSV63953, gnomAD rs1745214779, MetaLR 0.35, MetaSVM -0.34
- I41V (p.Ile41Val), ExAC rs774410906, gnomAD rs774410906, MetaLR 0.34, MetaSVM -0.49
- R42G (p.Arg42Gly), TOPMed rs1745214535, MetaLR 0.34, MetaSVM -0.43
- G43D (p.Gly43Asp), rs1365938089, ClinGen CA358610927, ClinVar RCV002967679, TOPMed rs1365938089, MetaLR 0.34, MetaSVM -0.49, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- I44V (p.Ile44Val), rs199922826, ClinGen CA108439376, ClinVar RCV000805033, TOPMed rs199922826, MetaLR 0.28, MetaSVM -0.66, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- R45K (p.Arg45Lys), rs1745213497, ClinGen CA358610898, cosmic curated COSV63960, ClinVar RCV001314844, MetaLR 0.11, MetaSVM -0.97, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- F48I (p.Phe48Ile), ESP rs374042410, TOPMed rs374042410, MetaLR 0.44, MetaSVM -0.12, Uncertain significance, Inborn genetic diseases
- A49D (p.Ala49Asp), rs766486585, ClinGen CA3103961, ClinVar RCV002780808, ExAC rs766486585, MetaLR 0.36, MetaSVM -0.52, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- A49V (p.Ala49Val), rs766486585, ClinGen CA358610859, ClinVar RCV001867750, ExAC rs766486585, MetaLR 0.38, MetaSVM -0.35, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- V50A (p.Val50Ala), rs1313934523, ClinGen CA358610855, ClinVar RCV000810326, ClinVar RCV003353042, Uncertain significance, Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- V50M (p.Val50Met), TOPMed rs1400416487
- L51V (p.Leu51Val), ExAC rs773791282, gnomAD rs773791282, MetaLR 0.46, MetaSVM -0.17
- T52N (p.Thr52Asn), ExAC rs770012357, gnomAD rs770012357, MetaLR 0.14, MetaSVM -0.92
- G53S (p.Gly53Ser), rs1745211052, ClinGen CA358610840, ClinVar RCV002819485, TOPMed rs1745211052, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- V55A (p.Val55Ala), gnomAD rs1173521721, MetaLR 0.25, MetaSVM -0.58
- V55I (p.Val55Ile), Ensembl rs1745210650
- V57I (p.Val57Ile), rs748548283, ClinGen CA3103957, ClinVar RCV000815887, ExAC rs748548283, MetaLR 0.34, MetaSVM -0.54, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- G58A (p.Gly58Ala), rs79361576, ClinGen CA3103955, ClinVar RCV001971419, 1000Genomes rs79361576, MetaLR 0.30, MetaSVM -0.56, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- G58E (p.Gly58Glu), 1000Genomes rs79361576, ExAC rs79361576, TOPMed rs79361576, gnomAD rs79361576, MetaLR 0.39, MetaSVM -0.42, Uncertain significance
- G58R (p.Gly58Arg), ExAC rs776087813, gnomAD rs776087813, MetaLR 0.42, MetaSVM -0.38
- E59* (p.Glu59Ter), rs199469664, ClinGen CA129912, ClinVar RCV000029136, ExAC rs199469664, Pathogenic
- E59G (p.Glu59Gly), ExAC rs779675769, gnomAD rs779675769, MetaLR 0.34, MetaSVM -0.52
- E59K (p.Glu59Lys), ExAC rs199469664, gnomAD rs199469664, MetaLR 0.25, MetaSVM -0.81, Pathogenic
- V60E (p.Val60Glu), ExAC rs758009570, gnomAD rs758009570
- S61P (p.Ser61Pro), Ensembl rs1561134738, MetaLR 0.14, MetaSVM -0.99
- N62D (p.Asn62Asp), rs368681065, ClinGen CA3103951, cosmic curated COSV10084, ClinVar RCV001209007, MetaLR 0.10, MetaSVM -1.04, Uncertain significance, Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- N62S (p.Asn62Ser), rs143386737, ClinGen CA3103950, ClinVar RCV001052860, ESP rs143386737, MetaLR 0.13, MetaSVM -1.00, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- R63T (p.Arg63Thr), rs756946124, ClinGen CA3103949, ClinVar RCV000689343, ExAC rs756946124, MetaLR 0.31, MetaSVM -0.57, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- D64E (p.Asp64Glu), rs1222697259, ClinGen CA358610771, ClinVar RCV000703844, TOPMed rs1222697259, MetaLR 0.18, MetaSVM -0.85, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- D64G (p.Asp64Gly), rs1579508366, ClinGen CA358610774, ClinVar RCV000805668, ClinVar RCV004986617, MetaLR 0.30, MetaSVM -0.54, Uncertain significance, Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- D64Y (p.Asp64Tyr), ExAC rs753655185, gnomAD rs753655185, MetaLR 0.35, MetaSVM -0.31
- I65T (p.Ile65Thr), rs148385798, ClinGen CA3103947, ClinVar RCV000768012, ClinVar RCV003918252, MetaLR 0.15, MetaSVM -0.84, Conflicting interpretations, Combined immunodeficiency due to LRBA deficiency
- V66G (p.Val66Gly), 1000Genomes rs555229581, ExAC rs555229581, TOPMed rs555229581, gnomAD rs555229581, MetaLR 0.44, MetaSVM -0.04
- E67* (p.Glu67Ter), NCI-TCGA Cosmic COSV6395, cosmic curated COSV63952, Variant assessed as somatic; high impact.
- E67Q (p.Glu67Gln), NCI-TCGA Cosmic COSV6395, Variant assessed as somatic; moderate impact.
- E67V (p.Glu67Val), gnomAD rs1745203692, MetaLR 0.28, MetaSVM -0.49
- T68A (p.Thr68Ala), ExAC rs751829504, TOPMed rs751829504, gnomAD rs751829504, MetaLR 0.28, MetaSVM -0.67
- V69A (p.Val69Ala), rs2546907404, ClinGen CA358610743, ClinVar RCV002643499, MetaLR 0.20, MetaSVM -0.43, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- N71H (p.Asn71His), TOPMed rs1346748244, MetaLR 0.30, MetaSVM -0.51
- N71I (p.Asn71Ile), gnomAD rs1745202382, MetaLR 0.39, MetaSVM -0.18
- L72V (p.Leu72Val), rs572995926, ClinGen CA358610723, ClinVar RCV003045175, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- L73F (p.Leu73Phe), gnomAD rs1259615979, MetaLR 0.41, MetaSVM -0.27
- L73W (p.Leu73Trp), gnomAD rs1485012908, MetaLR 0.47, MetaSVM -0.00
- V74I (p.Val74Ile), TOPMed rs1185812074, gnomAD rs1185812074, MetaLR 0.48, MetaSVM -0.08
- G75A (p.Gly75Ala), rs370110788, ClinGen CA3103920, ClinVar RCV000822390, ESP rs370110788, MetaLR 0.38, MetaSVM -0.33, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- G75E (p.Gly75Glu), rs370110788, ClinGen CA3103919, ClinVar RCV001050160, ESP rs370110788, MetaLR 0.35, MetaSVM -0.59, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- G76E (p.Gly76Glu), rs1260204902, ClinGen CA358439686, ClinVar RCV001915695, ClinVar RCV004042696, MetaLR 0.49, MetaSVM -0.01, Uncertain significance, Combined immunodeficiency due to LRBA deficiency; Inborn genetic diseases
- Q77L (p.Gln77Leu), TOPMed rs1254379836, gnomAD rs1254379836, MetaLR 0.25, MetaSVM -0.69
- Q77R (p.Gln77Arg), cosmic curated COSV10084, TOPMed rs1254379836, gnomAD rs1254379836, MetaLR 0.23, MetaSVM -0.74
- F78L (p.Phe78Leu), NCI-TCGA TCGA novel, MetaLR 0.51, MetaSVM 0.09, Variant assessed as somatic; moderate impact.
- L80P (p.Leu80Pro), gnomAD rs1211273094, MetaLR 0.35, MetaSVM -0.41
- M82I (p.Met82Ile), NCI-TCGA TCGA novel, MetaLR 0.31, MetaSVM -0.70, Variant assessed as somatic; moderate impact.
- M82V (p.Met82Val), gnomAD rs1258239236, MetaLR 0.25, MetaSVM -0.79
- N83I (p.Asn83Ile), Ensembl rs1734178213, MetaLR 0.35, MetaSVM -0.40
- N83S (p.Asn83Ser), Ensembl rs1734178213
- Q87R (p.Gln87Arg), ESP rs376575149, ExAC rs376575149, TOPMed rs376575149, gnomAD rs376575149, MetaLR 0.30, MetaSVM -0.62
- E88A (p.Glu88Ala), Ensembl rs1561019477, MetaLR 0.27, MetaSVM -0.66
- E88K (p.Glu88Lys), ExAC rs764517842, TOPMed rs764517842, gnomAD rs764517842, MetaLR 0.32, MetaSVM -0.52
- E90D (p.Glu90Asp), ExAC rs761129328, gnomAD rs761129328, MetaLR 0.22, MetaSVM -0.85
- E90G (p.Glu90Gly), gnomAD rs1382200207, MetaLR 0.33, MetaSVM -0.50
- S91G (p.Ser91Gly), rs2149509056, ClinGen CA358439580, ClinVar RCV001993836, Ensembl rs2149509056, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- S91T (p.Ser91Thr), TOPMed rs1246189774
- I92V (p.Ile92Val), TOPMed rs1734175972, MetaLR 0.32, MetaSVM -0.65
- C94F (p.Cys94Phe), rs771839194, ClinGen CA3103912, ClinVar RCV000702343, ClinVar RCV001766541, MetaLR 0.34, MetaSVM -0.63, Uncertain significance, not provided; Combined immunodeficiency due to LRBA deficiency
- C94S (p.Cys94Ser), ExAC rs775229217, TOPMed rs775229217, gnomAD rs775229217, MetaLR 0.33, MetaSVM -0.52, Uncertain significance, Inborn genetic diseases
- M95V (p.Met95Val), rs149204587, ClinGen CA3103911, ClinVar RCV002014550, ClinVar RCV005660272, MetaLR 0.36, MetaSVM -0.35, Uncertain significance, Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- L99P (p.Leu99Pro), gnomAD rs1463353811, MetaLR 0.51, MetaSVM 0.11
- C102F (p.Cys102Phe), rs1454709766, ClinGen CA358439502, ClinVar RCV003077049, gnomAD rs1454709766, MetaLR 0.35, MetaSVM -0.50, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- C102R (p.Cys102Arg), ExAC rs770397159, gnomAD rs770397159, MetaLR 0.33, MetaSVM -0.39
- T105K (p.Thr105Lys), TOPMed rs1467585610, gnomAD rs1467585610, MetaLR 0.30, MetaSVM -0.68, Uncertain significance
- T105M (p.Thr105Met), rs1467585610, TOPMed rs1467585610, gnomAD rs1467585610, MetaLR 0.34, MetaSVM -0.43, Uncertain significance, Inborn genetic diseases
- Q107K (p.Gln107Lys), rs373476644, ClinGen CA3103905, ClinVar RCV000811212, ClinVar RCV004569670, MetaLR 0.40, MetaSVM -0.32, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- Q107P (p.Gln107Pro), TOPMed rs1734169742
- A108T (p.Ala108Thr), rs1579233186, ClinGen CA358439460, ClinVar RCV000805371, Ensembl rs1579233186, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- A108V (p.Ala108Val), Ensembl rs1734169296, MetaLR 0.35, MetaSVM -0.59
- E109Q (p.Glu109Gln), TOPMed rs988014058
- E109V (p.Glu109Val), gnomAD rs1318863995, MetaLR 0.41, MetaSVM -0.28
- V110A (p.Val110Ala), ExAC rs781020793, TOPMed rs781020793, gnomAD rs781020793, MetaLR 0.19, MetaSVM -0.76
- W111* (p.Trp111Ter), rs1269821586, gnomAD 4-150265799-C-T, MetaLR 0.23, MetaSVM -0.74
- W111R (p.Trp111Arg), rs1488067407, gnomAD 4-150265800-A-G, CADD 6.98, SIFT 0.00
- S112I (p.Ser112Ile), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10084, Variant assessed as somatic; moderate impact.
- M113V (p.Met113Val), rs369275377, ClinGen CA3103902, ClinVar RCV001051147, ESP rs369275377, MetaLR 0.08, MetaSVM -1.07, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- T115I (p.Thr115Ile), gnomAD rs1349254578, MetaLR 0.22, MetaSVM -0.90, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- T115K (p.Thr115Lys), gnomAD rs1349254578, MetaLR 0.21, MetaSVM -0.80
- T115S (p.Thr115Ser), TOPMed rs1361336343
- I117F (p.Ile117Phe), ESP rs138267366, ExAC rs138267366, TOPMed rs138267366, gnomAD rs138267366, Uncertain significance
- I117V (p.Ile117Val), rs138267366, ClinGen CA3103899, cosmic curated COSV10084, ClinVar RCV000690119, MetaLR 0.28, MetaSVM -0.70, Uncertain significance, Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- L118Q (p.Leu118Gln), gnomAD rs1441333283, MetaLR 0.45, MetaSVM -0.04
- S121G (p.Ser121Gly), rs1329598341, ClinGen CA358439371, ClinVar RCV001247042, gnomAD rs1329598341, MetaLR 0.41, MetaSVM -0.15, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- I122V (p.Ile122Val), rs1394605018, ClinGen CA358439362, ClinVar RCV002797866, TOPMed rs1394605018, MetaLR 0.07, MetaSVM -1.01, Uncertain significance, Inborn genetic diseases
- R123Q (p.Arg123Gln), cosmic curated COSV10467, ExAC rs753108434, TOPMed rs753108434, gnomAD rs753108434, MetaLR 0.39, MetaSVM -0.30
- R123W (p.Arg123Trp), rs761325483, NCI-TCGA Cosmic COSV6394, cosmic curated COSV63949, ExAC rs761325483, MetaLR 0.41, MetaSVM -0.15, Variant assessed as somatic; moderate impact.
- N124S (p.Asn124Ser), gnomAD rs949161020, MetaLR 0.46, MetaSVM -0.09
- L125I (p.Leu125Ile), cosmic curated COSV63956, ESP rs376254392, ExAC rs376254392, TOPMed rs376254392, MetaLR 0.35, MetaSVM -0.39
- Q126E (p.Gln126Glu), cosmic curated COSV63950, ExAC rs773899169, gnomAD rs773899169
- Q126R (p.Gln126Arg), TOPMed rs1183305943, gnomAD rs1183305943, MetaLR 0.23, MetaSVM -0.69
- C128Y (p.Cys128Tyr), gnomAD rs1330562330, MetaLR 0.45, MetaSVM -0.13
- T129I (p.Thr129Ile), cosmic curated COSV63958, gnomAD rs1249361513, MetaLR 0.25, MetaSVM -0.58, Uncertain significance, Inborn genetic diseases
- T129S (p.Thr129Ser), rs1249361513, ClinGen CA358439315, ClinVar RCV003402373, MetaLR 0.13, MetaSVM -1.02, Uncertain significance, LRBA-related disorder
- V131A (p.Val131Ala), rs770434240, ClinGen CA3103891, ClinVar RCV001338484, ExAC rs770434240, MetaLR 0.26, MetaSVM -0.73, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- V131M (p.Val131Met), rs1475786670, gnomAD 4-150265812-C-T, CADD 17.50, SIFT 0.06
- G132D (p.Gly132Asp), ExAC rs773074081, TOPMed rs773074081, gnomAD rs773074081, MetaLR 0.40, MetaSVM -0.17
- G132V (p.Gly132Val), ExAC rs773074081, TOPMed rs773074081, gnomAD rs773074081, MetaLR 0.40, MetaSVM -0.13
- V134A (p.Val134Ala), NCI-TCGA Cosmic COSV6395, cosmic curated COSV63953, Variant assessed as somatic; moderate impact.
- E135K (p.Glu135Lys), gnomAD rs1344887835, MetaLR 0.25, MetaSVM -0.85
- K136R (p.Lys136Arg), rs1280284471, ClinGen CA358439273, ClinVar RCV001373771, TOPMed rs1280284471, MetaLR 0.10, MetaSVM -1.00, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- V137L (p.Val137Leu), gnomAD rs1241259458, Uncertain significance, Inborn genetic diseases
- G139A (p.Gly139Ala), ESP rs145746139, ExAC rs145746139, TOPMed rs145746139, gnomAD rs145746139, MetaLR 0.07, MetaSVM -1.03
- G139E (p.Gly139Glu), ESP rs145746139, ExAC rs145746139, TOPMed rs145746139, gnomAD rs145746139, MetaLR 0.05, MetaSVM -1.02
- I141V (p.Ile141Val), gnomAD 4-150265773-T-C, CADD 6.11
- K143E (p.Lys143Glu), gnomAD rs1306476019
- K143N (p.Lys143Asn), NCI-TCGA Cosmic COSV6395, cosmic curated COSV63951, Variant assessed as somatic; moderate impact.
- V144A (p.Val144Ala), gnomAD rs1734156800, MetaLR 0.07, MetaSVM -0.97
- D145N (p.Asp145Asn), gnomAD rs1415202928, MetaLR 0.27, MetaSVM -0.57
- N146S (p.Asn146Ser), TOPMed rs1413819149, gnomAD rs1413819149, MetaLR 0.05, MetaSVM -0.98
- M147I (p.Met147Ile), rs2149508763, NCI-TCGA TCGA novel, ClinGen CA358439191, ClinVar RCV001900707, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- I148R (p.Ile148Arg), ExAC rs780932494, gnomAD rs780932494, MetaLR 0.34, MetaSVM -0.39, Uncertain significance, Combined immunodeficiency due to LRBA deficiency
- I148T (p.Ile148Thr), ExAC rs780932494, gnomAD rs780932494, Uncertain significance
Public LRBA analysis runs
- LRBA analysis run — LRBA (3,609 variants) — completed 2026-08-20