HLA-B (P01889) variants and mutations
HLA-B (also known as P01889) is a human protein-coding gene encoding a HLA class I histocompatibility antigen, B alpha chain protein. It displays intracellularly derived peptides for surveillance by cytotoxic T cells and natural-killer-cell receptors. Specific alleles have major pharmacogenomic importance, including HLA-B*57:01 for abacavir hypersensitivity and HLA-B*15:02 for severe cutaneous reactions to selected antiseizure drugs. This analysis covers 1,203 HLA-B variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes COVID-19, neurodegenerative disease, and diffuse large B-cell lymphoma. Example HLA-B variants include L2P, L2Q, and L2R.
Variant analysis overview
- Gene: HLA-B
- Protein: P01889
- UniProt accession: P01889
- Organism: Homo sapiens
- Variants analyzed: 1203
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,123 unspecified-consequence records; 3 stop lost; 1 stop retained variant; 8 frameshift variants; 13 synonymous variants; 52 missense variants; 1 in-frame insertions; 1 splice-region variants; 1 stop-gained variants
- Prediction scores: 1,123 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: COVID-19, neurodegenerative disease, diffuse large B-cell lymphoma, spondyloarthropathy, Stevens-Johnson syndrome, head and neck squamous cell carcinoma, esophageal cancer, ebv-positive nodal t- and nk-cell lymphoma, cervical squamous cell carcinoma, lymphoma, autoimmune disorder of central nervous system, toxic epidermal necrolysis.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 7 binding sites; 1 post-translational modification sites.
- Structural context: 216 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable HLA-B variants
Examples include L2P, L2Q, L2R, L2V, V3A, V3I, M4I, M4K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- L2P (p.Leu2Pro), 1000Genomes rs9266206, ExAC rs9266206, gnomAD rs9266206, REVEL 0.18, CADD 9.80
- L2Q (p.Leu2Gln), 1000Genomes rs9266206, ExAC rs9266206, gnomAD rs9266206, REVEL 0.26, CADD 9.36, in allele B*13:02, allele B*15:01, allele B*18:01, allele B*27:01, allele B*27:0
- L2R (p.Leu2Arg), rs9266206, cosmic curated COSV69520, UniProt VAR 082483, 1000Genomes rs9266206, REVEL 0.39, CADD 9.57, Benign, in allele B*13:02, allele B*15:01, allele B*18:01, allele B*27:01, allele B*27:0
- L2V (p.Leu2Val), ExAC rs755208749, gnomAD rs755208749, REVEL 0.26, CADD 4.14
- V3A (p.Val3Ala), Ensembl rs1767193893, REVEL 0.22, CADD 14.40
- V3I (p.Val3Ile), ExAC rs750982109, REVEL 0.12, CADD 14.70
- M4I (p.Met4Ile), cosmic curated COSV10131, ExAC rs762695896, gnomAD rs762695896, REVEL 0.24, CADD 19.90
- M4K (p.Met4Lys), 1000Genomes rs1050458, ExAC rs1050458, gnomAD rs1050458, REVEL 0.24, CADD 10.30
- M4R (p.Met4Arg), 1000Genomes rs1050458, ExAC rs1050458, gnomAD rs1050458, REVEL 0.25, CADD 14.10, in allele B*13:02, allele B*15:01, allele B*18:01, allele B*27:01, allele B*27:0
- M4T (p.Met4Thr), rs1050458, cosmic curated COSV69520, UniProt VAR 082484, 1000Genomes rs1050458, REVEL 0.38, CADD 7.00, Benign, in allele B*13:02, allele B*15:01, allele B*18:01, allele B*27:01, allele B*27:0
- A5E (p.Ala5Glu), gnomAD rs41543515, REVEL 0.24, CADD 5.46
- A5G (p.Ala5Gly), gnomAD rs41543515, REVEL 0.18, CADD 8.63
- A5T (p.Ala5Thr), gnomAD rs1345607879, REVEL 0.13, CADD 19.50
- P6H (p.Pro6His), 1000Genomes rs765139348, ExAC rs765139348, gnomAD rs765139348, REVEL 0.12, CADD 22.40
- P6L (p.Pro6Leu), 1000Genomes rs765139348, ExAC rs765139348, gnomAD rs765139348, REVEL 0.07, CADD 22.60
- P6S (p.Pro6Ser), gnomAD rs1379930721, REVEL 0.09, CADD 19.10
- R7* (p.Arg7Ter), rs776780353, NCI-TCGA Cosmic COSV6952, cosmic curated COSV69520, CADD 35.00, Variant assessed as somatic; high impact.
- R7E (p.Arg7Glu), NCI-TCGA Cosmic COSV6952, Variant assessed as somatic; high impact.
- R7G (p.Arg7Gly), NCI-TCGA Cosmic COSV6952, cosmic curated COSV69521, REVEL 0.23, CADD 14.30, Variant assessed as somatic; moderate impact.
- R7L (p.Arg7Leu), gnomAD rs1265822237, REVEL 0.19, CADD 20.20
- T8P (p.Thr8Pro), ExAC rs770875504, gnomAD rs770875504, REVEL 0.20, CADD 22.90
- T8S (p.Thr8Ser), gnomAD rs1486397142, REVEL 0.14, CADD 12.70
- V9A (p.Val9Ala), gnomAD rs1214930332, REVEL 0.17, CADD 22.30
- V9D (p.Val9Asp), gnomAD rs1214930332, REVEL 0.23, CADD 23.60
- V9F (p.Val9Phe), 1000Genomes rs1050462, ESP rs1050462, ExAC rs1050462, gnomAD rs1050462, REVEL 0.16, CADD 15.80
- V9L (p.Val9Leu), rs1050462, cosmic curated COSV69520, UniProt VAR 082485, 1000Genomes rs1050462, REVEL 0.30, CADD 14.60, Benign, in allele B*13:02, allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:0
- L10F (p.Leu10Phe), 1000Genomes rs749523872, ExAC rs749523872, gnomAD rs749523872, REVEL 0.12, CADD 20.60
- L10I (p.Leu10Ile), 1000Genomes rs749523872, ExAC rs749523872, gnomAD rs749523872, REVEL 0.10, CADD 22.70
- L10P (p.Leu10Pro), NCI-TCGA TCGA novel, gnomAD rs1767188148, REVEL 0.19, CADD 26.80, Variant assessed as somatic; moderate impact.
- L10V (p.Leu10Val), 1000Genomes rs749523872, ExAC rs749523872, gnomAD rs749523872, REVEL 0.10, CADD 22.50
- L11P (p.Leu11Pro), ExAC rs756534089, gnomAD rs756534089, REVEL 0.18, CADD 32.00
- L12M (p.Leu12Met), ExAC rs746200003, gnomAD rs746200003, REVEL 0.11, CADD 25.60
- L12P (p.Leu12Pro), gnomAD rs1386205687, REVEL 0.20, CADD 28.40
- L13F (p.Leu13Phe), gnomAD rs1290354847, REVEL 0.13, CADD 25.10
- L13P (p.Leu13Pro), rs1417633427, NCI-TCGA Cosmic COSV6952, cosmic curated COSV69521, gnomAD rs1417633427, REVEL 0.19, CADD 25.90, Variant assessed as somatic; moderate impact.
- S14* (p.Ser14Ter), 1000Genomes rs1131156, ESP rs1131156, ExAC rs1131156, gnomAD rs1131156, CADD 37.00
- S14L (p.Ser14Leu), 1000Genomes rs1131156, ESP rs1131156, ExAC rs1131156, gnomAD rs1131156, REVEL 0.17, CADD 17.30
- S14W (p.Ser14Trp), rs1131156, cosmic curated COSV69520, UniProt VAR 082486, 1000Genomes rs1131156, REVEL 0.26, CADD 22.30, Benign, in allele B*13:02, allele B*18:01, allele B*27:01, allele B*27:05, allele B*35:0
- A15E (p.Ala15Glu), 1000Genomes rs1131159, ESP rs1131159, ExAC rs1131159, gnomAD rs1131159, CADD 10.40
- A15G (p.Ala15Gly), Ensembl rs796362505, REVEL 0.14, CADD 13.50, Benign, in allele B*13:02, allele B*15:01, allele B*18:01, allele B*27:01, allele B*27:0
- A15S (p.Ala15Ser), ExAC rs763666151, gnomAD rs763666151, CADD 13.40
- A15T (p.Ala15Thr), cosmic curated COSV10973, ExAC rs763666151, gnomAD rs763666151, CADD 13.90
- A15V (p.Ala15Val), 1000Genomes rs1131159, ESP rs1131159, ExAC rs1131159, gnomAD rs1131159, CADD 11.00
- A16D (p.Ala16Asp), ExAC rs45585233, gnomAD rs45585233, REVEL 0.24, CADD 22.80
- A16G (p.Ala16Gly), ExAC rs45585233, gnomAD rs45585233, REVEL 0.15, CADD 20.60
- A16S (p.Ala16Ser), ExAC rs764977894, gnomAD rs764977894, REVEL 0.13, CADD 18.80
- A16T (p.Ala16Thr), ExAC rs764977894, gnomAD rs764977894, REVEL 0.15, CADD 16.10
- A16V (p.Ala16Val), ExAC rs45585233, gnomAD rs45585233, REVEL 0.21, CADD 15.60
- L17M (p.Leu17Met), 1000Genomes rs1131165, ESP rs1131165, ExAC rs1131165, gnomAD rs1131165, REVEL 0.16, CADD 23.20
- L17V (p.Leu17Val), Ensembl rs1401245855, REVEL 0.24, CADD 20.60, Benign, in allele B*13:02, allele B*18:01, allele B*27:01, allele B*27:05, allele B*35:0
- A18D (p.Ala18Asp), ExAC rs769980881, REVEL 0.19, CADD 21.90
- A18S (p.Ala18Ser), ExAC rs775725340, gnomAD rs775725340, REVEL 0.16, CADD 18.50
- A18T (p.Ala18Thr), ExAC rs775725340, gnomAD rs775725340, REVEL 0.15, CADD 14.70
- L19P (p.Leu19Pro), ExAC rs41540116, gnomAD rs41540116, REVEL 0.18, CADD 21.90
- L19Q (p.Leu19Gln), ExAC rs41540116, gnomAD rs41540116, REVEL 0.18, CADD 23.40
- T20A (p.Thr20Ala), gnomAD rs1346499232, REVEL 0.16, CADD 23.10
- T20S (p.Thr20Ser), gnomAD rs1346499232, REVEL 0.13, CADD 22.40
- E21* (p.Glu21Ter), rs1231905919, NCI-TCGA Cosmic COSV1013, cosmic curated COSV10131, gnomAD rs1231905919, CADD 34.00, Variant assessed as somatic; high impact.
- E21D (p.Glu21Asp), gnomAD rs1326884077, REVEL 0.16, CADD 23.70
- E21G (p.Glu21Gly), Ensembl rs2113753276, REVEL 0.11, CADD 24.00
- E21K (p.Glu21Lys), gnomAD rs1231905919, REVEL 0.25, CADD 13.70
- E21Q (p.Glu21Gln), gnomAD rs1231905919, REVEL 0.25, CADD 9.76
- T22P (p.Thr22Pro), gnomAD rs1297671916, REVEL 0.22, CADD 23.70
- T22S (p.Thr22Ser), gnomAD rs1297671916, REVEL 0.19, CADD 22.60
- W23L (p.Trp23Leu), gnomAD rs1397852593, REVEL 0.11, CADD 21.80
- A24S (p.Ala24Ser), gnomAD rs1339646796, REVEL 0.18, CADD 23.00
- A24V (p.Ala24Val), gnomAD rs1313677305, REVEL 0.20, CADD 23.40
- G25C (p.Gly25Cys), 1000Genomes rs778131844, ExAC rs778131844, gnomAD rs778131844, CADD 8.85
- G25S (p.Gly25Ser), 1000Genomes rs778131844, ExAC rs778131844, gnomAD rs778131844, CADD 9.41
- G25V (p.Gly25Val), Ensembl rs1767146701, REVEL 0.22, CADD 29.60
- S26F (p.Ser26Phe), Ensembl rs151341087, REVEL 0.12, CADD 24.20
- S26P (p.Ser26Pro), gnomAD rs1767145997, REVEL 0.17, CADD 23.50
- H27L (p.His27Leu), gnomAD rs1421938775, REVEL 0.27, CADD 26.90
- H27P (p.His27Pro), cosmic curated COSV69522, gnomAD rs1421938775, REVEL 0.26, CADD 27.40
- H27Q (p.His27Gln), Ensembl rs137854636, REVEL 0.20, CADD 22.90
- H27R (p.His27Arg), gnomAD rs1421938775, REVEL 0.25, CADD 24.90
- H27Y (p.His27Tyr), Ensembl rs77882874, REVEL 0.22, CADD 25.90
- S28A (p.Ser28Ala), gnomAD rs151341090, REVEL 0.22, CADD 25.60
- S28F (p.Ser28Phe), 1000Genomes rs41555216, ESP rs41555216, ExAC rs41555216, gnomAD rs41555216, REVEL 0.17, CADD 23.50
- S28P (p.Ser28Pro), NCI-TCGA TCGA novel, gnomAD rs151341090, REVEL 0.24, CADD 28.70, Variant assessed as somatic; moderate impact.
- S28T (p.Ser28Thr), gnomAD rs151341090, REVEL 0.19, CADD 23.70
- M29* (p.Met29Ter), NCI-TCGA TCGA novel, CADD 22.80, Variant assessed as somatic; high impact.
- M29I (p.Met29Ile), NCI-TCGA Cosmic COSV1013, cosmic curated COSV10131, REVEL 0.20, CADD 24.00, Variant assessed as somatic; moderate impact.
- M29K (p.Met29Lys), Ensembl rs72558106, REVEL 0.20, CADD 24.20
- M29L (p.Met29Leu), ExAC rs137854638, gnomAD rs137854638, REVEL 0.21, CADD 7.81
- M29R (p.Met29Arg), Ensembl rs72558106, REVEL 0.21, CADD 26.00
- M29T (p.Met29Thr), Ensembl rs72558106, REVEL 0.22, CADD 22.70
- M29V (p.Met29Val), ExAC rs137854638, gnomAD rs137854638, REVEL 0.23, CADD 8.31
- R30K (p.Arg30Lys), gnomAD rs41552318, REVEL 0.14, CADD 13.80
- R30M (p.Arg30Met), gnomAD rs41552318, REVEL 0.13, CADD 19.00
- R30S (p.Arg30Ser), Ensembl rs151341091, REVEL 0.17, CADD 21.90
- R30T (p.Arg30Thr), gnomAD rs41552318, REVEL 0.18, CADD 18.00
- R30W (p.Arg30Trp), Ensembl rs2113751791, REVEL 0.15, CADD 23.80
- Y31* (p.Tyr31Ter), Ensembl rs41546617, CADD 39.00
- Y31C (p.Tyr31Cys), Ensembl rs281864586, REVEL 0.21, CADD 25.40
- Y31D (p.Tyr31Asp), ExAC rs41555918, gnomAD rs41555918, REVEL 0.27, CADD 27.00
- Y31F (p.Tyr31Phe), Ensembl rs281864586, REVEL 0.12, CADD 24.60
- Y31H (p.Tyr31His), ExAC rs41555918, gnomAD rs41555918, REVEL 0.21, CADD 26.70
- Y31N (p.Tyr31Asn), ExAC rs41555918, gnomAD rs41555918, REVEL 0.20, CADD 26.70
- F32L (p.Phe32Leu), Ensembl rs151341093, REVEL 0.13, CADD 25.30
- F32V (p.Phe32Val), gnomAD rs151341092, REVEL 0.22, CADD 26.10
- Y33C (p.Tyr33Cys), ExAC rs77234140, gnomAD rs77234140, REVEL 0.26, CADD 13.80
- Y33D (p.Tyr33Asp), rs2596492, cosmic curated COSV69520, UniProt VAR 082489, 1000Genomes rs2596492, REVEL 0.25, CADD 1.61, Benign, in allele B*08:01
- Y33F (p.Tyr33Phe), ExAC rs77234140, gnomAD rs77234140, REVEL 0.23, CADD 6.13
- Y33H (p.Tyr33His), rs2596492, ClinGen CA3711895, cosmic curated COSV69520, ClinVar RCV003974709, REVEL 0.23, CADD 1.84, Likely benign, HLA-B-related disorder
- Y33N (p.Tyr33Asn), 1000Genomes rs2596492, ESP rs2596492, ExAC rs2596492, gnomAD rs2596492, REVEL 0.22, CADD 1.51, Likely benign, in allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:01, allele B*40:0
- Y33S (p.Tyr33Ser), ExAC rs77234140, gnomAD rs77234140, REVEL 0.32, CADD 6.31
- T34A (p.Thr34Ala), 1000Genomes rs774891894, ExAC rs774891894, gnomAD rs774891894, REVEL 0.16, CADD 22.00
- T34N (p.Thr34Asn), Ensembl rs2113751632, REVEL 0.12, CADD 22.30
- T34P (p.Thr34Pro), 1000Genomes rs774891894, ExAC rs774891894, gnomAD rs774891894, REVEL 0.18, CADD 24.80
- T34S (p.Thr34Ser), 1000Genomes rs774891894, ExAC rs774891894, gnomAD rs774891894, REVEL 0.15, CADD 22.70
- S35A (p.Ser35Ala), rs1131170, cosmic curated COSV69520, UniProt VAR 082491, 1000Genomes rs1131170, REVEL 0.32, CADD 8.85, Benign, in allele B*08:01, allele B*13:02, allele B*15:01, allele B*35:01, allele B*40:0
- S35F (p.Ser35Phe), Ensembl rs151341095, REVEL 0.20, CADD 22.60
- S35T (p.Ser35Thr), 1000Genomes rs1131170, ESP rs1131170, ExAC rs1131170, gnomAD rs1131170, REVEL 0.22, CADD 8.85
- V36A (p.Val36Ala), gnomAD rs137854644, REVEL 0.12, CADD 22.60
- V36E (p.Val36Glu), gnomAD rs137854644, REVEL 0.20, CADD 23.90
- V36L (p.Val36Leu), 1000Genomes rs1050486, ESP rs1050486, ExAC rs1050486, gnomAD rs1050486, REVEL 0.17, CADD 18.80
- V36M (p.Val36Met), rs1050486, cosmic curated COSV69520, UniProt VAR 082492, 1000Genomes rs1050486, REVEL 0.15, CADD 15.60, Benign, in allele B*08:01, allele B*13:02, allele B*15:01, allele B*35:01, allele B*40:0
- S37A (p.Ser37Ala), gnomAD rs41552612, REVEL 0.23, CADD 24.50
- S37F (p.Ser37Phe), Ensembl rs151341097, REVEL 0.27, CADD 26.70
- S37P (p.Ser37Pro), gnomAD rs41552612, REVEL 0.19, CADD 25.20
- S37T (p.Ser37Thr), gnomAD rs41552612, REVEL 0.17, CADD 24.10
- R38G (p.Arg38Gly), gnomAD rs1338962119, REVEL 0.20, CADD 26.40
- R38Q (p.Arg38Gln), cosmic curated COSV10443, Ensembl rs79051037, REVEL 0.20, CADD 28.60
- R38W (p.Arg38Trp), gnomAD rs1338962119, REVEL 0.23, CADD 28.70
- P39L (p.Pro39Leu), Ensembl rs281864587, REVEL 0.19, CADD 26.10
- P39T (p.Pro39Thr), Ensembl rs151341099, REVEL 0.20, CADD 24.90
- G40A (p.Gly40Ala), Ensembl rs41560213, REVEL 0.11, CADD 23.90
- G40D (p.Gly40Asp), Ensembl rs41560213, REVEL 0.13, CADD 24.10
- G40S (p.Gly40Ser), cosmic curated COSV10593, gnomAD rs1399078190, REVEL 0.12, CADD 24.50
- G40V (p.Gly40Val), Ensembl rs41560213, REVEL 0.18, CADD 24.10
- R41C (p.Arg41Cys), ExAC rs137854651, gnomAD rs137854651, REVEL 0.17, CADD 21.00
- R41G (p.Arg41Gly), ExAC rs137854651, gnomAD rs137854651, REVEL 0.18, CADD 15.30
- R41H (p.Arg41His), Ensembl rs151341102, REVEL 0.18, CADD 18.50
- R41L (p.Arg41Leu), Ensembl rs151341102, REVEL 0.19, CADD 8.20
- R41S (p.Arg41Ser), ExAC rs137854651, gnomAD rs137854651, REVEL 0.15, CADD 21.10
- G42A (p.Gly42Ala), Ensembl rs2113751329
- G42R (p.Gly42Arg), Ensembl rs72558107, REVEL 0.22, CADD 21.60
- E43* (p.Glu43Ter), rs137854653, NCI-TCGA Cosmic COSV6952, cosmic curated COSV69521, CADD 35.00, Variant assessed as somatic; high impact.
- E43A (p.Glu43Ala), Ensembl rs1582557686, REVEL 0.14, CADD 22.80
- E43G (p.Glu43Gly), Ensembl rs1582557686, REVEL 0.13, CADD 23.20
- E43K (p.Glu43Lys), rs137854653, NCI-TCGA Cosmic COSV6952, cosmic curated COSV69520, REVEL 0.19, CADD 18.10, Variant assessed as somatic; moderate impact.
- E43Q (p.Glu43Gln), gnomAD rs137854653, REVEL 0.19, CADD 22.30
- P44L (p.Pro44Leu), Ensembl rs41564222, REVEL 0.25, CADD 23.60
- P44R (p.Pro44Arg), Ensembl rs41564222, REVEL 0.22, CADD 23.40
- P44S (p.Pro44Ser), Ensembl rs45550032, REVEL 0.14, CADD 22.40
- R45C (p.Arg45Cys), gnomAD rs45509993, REVEL 0.11, CADD 19.90
- R45G (p.Arg45Gly), gnomAD rs45509993, REVEL 0.14, CADD 17.70
- R45H (p.Arg45His), cosmic curated COSV99070, 1000Genomes rs11546719, ExAC rs11546719, gnomAD rs11546719, REVEL 0.12, CADD 20.00
- R45L (p.Arg45Leu), 1000Genomes rs11546719, ExAC rs11546719, gnomAD rs11546719, REVEL 0.15, CADD 22.60
- R45P (p.Arg45Pro), 1000Genomes rs11546719, ExAC rs11546719, gnomAD rs11546719, REVEL 0.22, CADD 22.80
- R45S (p.Arg45Ser), gnomAD rs45509993, REVEL 0.13, CADD 18.50
- F46C (p.Phe46Cys), gnomAD rs1767127680, REVEL 0.28, CADD 11.10
- F46L (p.Phe46Leu), Ensembl rs137854656, REVEL 0.22, CADD 15.50
- I47M (p.Ile47Met), 1000Genomes rs1050502, ExAC rs1050502, gnomAD rs1050502, REVEL 0.14, CADD 21.80
- I47N (p.Ile47Asn), Ensembl rs281864588, REVEL 0.12, CADD 23.80
- I47S (p.Ile47Ser), Ensembl rs281864588, REVEL 0.14, CADD 24.00
- I47V (p.Ile47Val), ExAC rs151341106, gnomAD rs151341106, REVEL 0.19, CADD 13.50
- S48A (p.Ser48Ala), rs713031, cosmic curated COSV69521, UniProt VAR 082493, 1000Genomes rs713031, REVEL 0.26, CADD 8.94, Benign, in allele B*15:01, allele B*35:01, allele B*46:01, allele B*51:01, allele B*52:0
- S48P (p.Ser48Pro), 1000Genomes rs713031, ESP rs713031, ExAC rs713031, gnomAD rs713031, REVEL 0.27, CADD 14.00
- S48T (p.Ser48Thr), Ensembl rs796133251, REVEL 0.32, CADD 8.87, Benign, in allele B*13:02, allele B*27:01, allele B*27:05, allele B*40:01, allele B*40:0
- V49A (p.Val49Ala), Ensembl rs41542121, REVEL 0.20, CADD 22.50
- V49E (p.Val49Glu), Ensembl rs41542121, REVEL 0.25, CADD 24.20
- V49M (p.Val49Met), Ensembl rs41564319, REVEL 0.20, CADD 22.00
- G50D (p.Gly50Asp), rs281864589, NCI-TCGA Cosmic COSV6952, cosmic curated COSV69520, ExAC rs281864589, REVEL 0.32, CADD 23.70, Variant assessed as somatic; moderate impact.
- G50R (p.Gly50Arg), Ensembl rs41558422, REVEL 0.30, CADD 24.80
- G50S (p.Gly50Ser), NCI-TCGA TCGA novel, REVEL 0.27, CADD 24.60, Variant assessed as somatic; moderate impact.
- Y51* (p.Tyr51Ter), ExAC rs151341108, gnomAD rs151341108, CADD 39.00
- Y51C (p.Tyr51Cys), rs281864590, NCI-TCGA Cosmic COSV1013, cosmic curated COSV10131, ExAC rs281864590, REVEL 0.33, CADD 25.50, Variant assessed as somatic; moderate impact.
- Y51F (p.Tyr51Phe), ExAC rs281864590, gnomAD rs281864590, REVEL 0.26, CADD 24.60
- Y51H (p.Tyr51His), gnomAD rs137854659, REVEL 0.29, CADD 26.90
- Y51N (p.Tyr51Asn), gnomAD rs137854659, REVEL 0.30, CADD 27.10
- V52A (p.Val52Ala), gnomAD rs151341109, REVEL 0.27, CADD 26.90
- V52G (p.Val52Gly), gnomAD rs151341109, REVEL 0.33, CADD 28.00
- V52L (p.Val52Leu), ExAC rs281864591, gnomAD rs281864591, REVEL 0.21, CADD 24.20
- V52M (p.Val52Met), ExAC rs281864591, gnomAD rs281864591, REVEL 0.23, CADD 24.60
- D53G (p.Asp53Gly), Ensembl rs281864593, REVEL 0.33, CADD 29.00
- D53V (p.Asp53Val), Ensembl rs281864593, REVEL 0.38, CADD 28.70
- D53Y (p.Asp53Tyr), Ensembl rs281864592, REVEL 0.35, CADD 28.10
- D54G (p.Asp54Gly), rs9266183, ClinGen CA3711866, ClinVar RCV003972149, UniProt VAR 082495, REVEL 0.15, CADD 23.20, Likely benign, HLA-B-related disorder
Public HLA-B analysis runs
- HLA-B analysis run — HLA-B (1,203 variants) — completed 2026-08-18