B2M (Beta-2-microglobulin) variants and mutations
B2M (also known as Beta-2-microglobulin) is a human protein-coding gene encoding a beta-2-microglobulin protein. It is required for stable surface expression of MHC class I molecules and therefore for presentation of intracellular peptides to CD8 T cells. Loss of expression can help tumors evade immune recognition, while circulating beta-2-microglobulin is also used as a biomarker in several hematologic diseases. This analysis covers 525 B2M variants and mutations. Of these, 54% have computational variant effect predictions. Disease context includes Immunodeficiency by defective expression of HLA class 1, diffuse large B-cell lymphoma, and HIV infectious disease. Example B2M variants include M1?, M1T, and S2C.
Variant analysis overview
- Gene: B2M
- Protein: Beta-2-microglobulin
- UniProt accession: P61769
- Organism: Homo sapiens
- Variants analyzed: 525
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 456 unspecified-consequence records; 19 missense variants; 43 synonymous variants; 2 splice-region variants; 2 frameshift variants; 3 substitution
- Prediction scores: 283 variants have prediction scores (54% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Immunodeficiency by defective expression of HLA class 1, diffuse large B-cell lymphoma, HIV infectious disease, amyloidosis, hereditary systemic 6, AL amyloidosis, COVID-19, non-Hodgkin lymphoma, Familial renal amyloidosis, familial visceral amyloidosis, melanoma, Hodgkins lymphoma, colon adenocarcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 8 post-translational modification sites.
- Structural context: 399 variants have structural context.
- PTM context: 30 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable B2M variants
Examples include M1?, M1T, S2C, S2F, S2P, S2Y, R3C, R3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs1023835002, NCI-TCGA Cosmic COSV6256, MetaLR 0.01, MetaSVM -0.68, Likely pathogenic
- M1T (p.Met1Thr), rs1057519879, ClinVar RCV005009638, MetaLR 0.00, MetaSVM -0.72, Likely pathogenic, Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- S2C (p.Ser2Cys), ESP rs368160918, ExAC rs368160918, TOPMed rs368160918, gnomAD rs368160918, MetaLR 0.00, MetaSVM -0.82, Uncertain significance
- S2F (p.Ser2Phe), rs368160918, ESP rs368160918, ExAC rs368160918, TOPMed rs368160918, MetaLR 0.00, MetaSVM -0.81, Uncertain significance, Hypoproteinemia, hypercatabolic
- S2P (p.Ser2Pro), TOPMed rs1165361280, gnomAD rs1165361280, MetaLR 0.00, MetaSVM -0.90
- S2Y (p.Ser2Tyr), ESP rs368160918, ExAC rs368160918, TOPMed rs368160918, gnomAD rs368160918, MetaLR 0.01, MetaSVM -0.82, Uncertain significance
- R3C (p.Arg3Cys), rs765817584, ClinGen CA7536257, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62562, MetaLR 0.01, MetaSVM -0.96, Uncertain significance, Hypoproteinemia, hypercatabolic
- R3G (p.Arg3Gly), ExAC rs765817584, TOPMed rs765817584, gnomAD rs765817584, MetaLR 0.01, MetaSVM -0.93, Uncertain significance
- R3H (p.Arg3His), rs1046534954, ClinGen CA270114323, cosmic curated COSV62564, ClinVar RCV002593234, MetaLR 0.01, MetaSVM -1.05, Uncertain significance, Hypoproteinemia, hypercatabolic
- R3L (p.Arg3Leu), TOPMed rs1046534954, gnomAD rs1046534954, MetaLR 0.01, MetaSVM -0.99, Uncertain significance
- R3S (p.Arg3Ser), ExAC rs765817584, TOPMed rs765817584, gnomAD rs765817584, cosmic curated COSV10527, MetaLR 0.00, MetaSVM -0.91, Uncertain significance
- R3P (p.Arg3Pro), gnomAD 15-44711554-G-C, MetaLR 0.01, MetaSVM -0.97
- R3R (p.Arg3Arg), rs2141284424, gnomAD 15-44711555-C-T, CADD 8.79
- S4* (p.Ser4Ter), cosmic curated COSV62567
- S4F (p.Ser4Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S4P (p.Ser4Pro), Ensembl rs2141284429, MetaLR 0.01, MetaSVM -0.97
- S4T (p.Ser4Thr), Ensembl rs2141284429
- S4S (p.Ser4Ser), rs144431244, gnomAD 15-44711558-C-A, CADD 1.75
- V5A (p.Val5Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V5E (p.Val5Glu), cosmic curated COSV10886
- V5L (p.Val5Leu), gnomAD rs1183112448, cosmic curated COSV10886, MetaLR 0.01, MetaSVM -0.85
- V5M (p.Val5Met), cosmic curated COSV62565, gnomAD rs1183112448, MetaLR 0.01, MetaSVM -0.96
- V5V (p.Val5Val), rs1418047215, gnomAD 15-44711561-G-A, CADD 7.99
- A6G (p.Ala6Gly), gnomAD rs1162424693, MetaLR 0.01, MetaSVM -0.92
- A6P (p.Ala6Pro), ExAC rs763258605, gnomAD rs763258605, cosmic curated COSV10591, MetaLR 0.01, MetaSVM -0.92
- A6S (p.Ala6Ser), ExAC rs763258605, gnomAD rs763258605, MetaLR 0.01, MetaSVM -0.89
- A6T (p.Ala6Thr), ExAC rs763258605, gnomAD rs763258605, MetaLR 0.01, MetaSVM -0.90
- A6V (p.Ala6Val), rs1162424693, gnomAD rs1162424693, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62563, MetaLR 0.01, MetaSVM -0.89, Variant assessed as somatic; moderate impact.
- L7* (p.Leu7Ter), rs2086865732, gnomAD rs2086865732, NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6256, AlphaMissense 0.29, MetaLR 0.01, Pathogenic
- L7F (p.Leu7Phe), ExAC rs766716677, gnomAD rs766716677, MetaLR 0.01, MetaSVM -0.90
- L7S (p.Leu7Ser), NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, AlphaMissense 0.29, MetaLR 0.01, Pathogenic
- A8D (p.Ala8Asp), cosmic curated COSV62564, Ensembl rs2141284479
- A8N (p.Ala8Asn), cosmic curated COSV10466
- A8P (p.Ala8Pro), cosmic curated COSV62563, Ensembl rs369474839
- A8S (p.Ala8Ser), Ensembl rs369474839, NCI-TCGA TCGA novel, MetaLR 0.01, MetaSVM -0.91, Variant assessed as somatic; high impact.
- A8T (p.Ala8Thr), Ensembl rs369474839, cosmic curated COSV62562, MetaLR 0.01, MetaSVM -0.91
- A8V (p.Ala8Val), Ensembl rs2141284479, cosmic curated COSV10527, MetaLR 0.00, MetaSVM -0.94
- A8A (p.Ala8Ala), rs1955559674, gnomAD 15-44711570-T-C, CADD 7.78
- V9E (p.Val9Glu), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62566, Ensembl rs2141284493, Variant assessed as somatic; moderate impact.
- V9G (p.Val9Gly), cosmic curated COSV62563, Ensembl rs2141284493
- V9L (p.Val9Leu), Ensembl rs2141284490, cosmic curated COSV62566
- V9M (p.Val9Met), Ensembl rs2141284490, MetaLR 0.01, MetaSVM -0.90
- V9V (p.Val9Val), rs552741313, gnomAD 15-44711573-G-A, CADD 6.07
- L10F (p.Leu10Phe), cosmic curated COSV62566, ExAC rs755159854, TOPMed rs755159854, gnomAD rs755159854, MetaLR 0.01, MetaSVM -0.94
- L10P (p.Leu10Pro), cosmic curated COSV10606
- L10R (p.Leu10Arg), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, Variant assessed as somatic; moderate impact.
- L10V (p.Leu10Val), ExAC rs755159854, TOPMed rs755159854, gnomAD rs755159854, MetaLR 0.00, MetaSVM -0.95
- A11E (p.Ala11Glu), TOPMed rs1440025860, gnomAD rs1440025860, MetaLR 0.01, MetaSVM -0.97, Uncertain significance, in IMD43
- A11P (p.Ala11Pro), rs104894481, ClinGen CA251327, ClinVar RCV000019314, UniProt VAR 030660, MetaLR 0.01, MetaSVM -0.94, Uncertain significance, Hypoproteinemia, hypercatabolic
- A11S (p.Ala11Ser), gnomAD rs104894481, MetaLR 0.01, MetaSVM -0.86, Uncertain significance, in IMD43
- A11V (p.Ala11Val), TOPMed rs1440025860, gnomAD rs1440025860, MetaLR 0.00, MetaSVM -0.93, Uncertain significance, Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- A11T (p.Ala11Thr), gnomAD 15-44711577-G-A, MetaLR 0.01, MetaSVM -0.90
- A11A (p.Ala11Ala), rs781314311, gnomAD 15-44711579-G-C, CADD 5.75
- L12P (p.Leu12Pro), Ensembl rs2141284555, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62563, MetaLR 0.03, MetaSVM -1.04, Uncertain significance, Neoplasm
- L12Q (p.Leu12Gln), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62562, Variant assessed as somatic; moderate impact.
- L12R (p.Leu12Arg), cosmic curated COSV10527, NCI-TCGA Cosmic COSV6256, Variant assessed as somatic; moderate impact.
- L12V (p.Leu12Val), Ensembl rs11553033, MetaLR 0.03, MetaSVM -1.04
- L12L (p.Leu12Leu), rs11553033, gnomAD 15-44711580-C-T, CADD 10.60
- L13F (p.Leu13Phe), gnomAD rs1356237470, cosmic curated COSV62565, MetaLR 0.01, MetaSVM -0.90, Uncertain significance, Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- L13H (p.Leu13His), 1000Genomes rs752758095, ExAC rs752758095, gnomAD rs752758095, cosmic curated COSV62565
- L13P (p.Leu13Pro), rs752758095, 1000Genomes rs752758095, ExAC rs752758095, gnomAD rs752758095, MetaLR 0.01, MetaSVM -1.01, Variant assessed as somatic; moderate impact.
- L13R (p.Leu13Arg), cosmic curated COSV62564, 1000Genomes rs752758095, ExAC rs752758095, gnomAD rs752758095, MetaLR 0.01, MetaSVM -0.99
- L13L (p.Leu13Leu), rs1271545891, gnomAD 15-44711585-C-G, CADD 6.89
- S14C (p.Ser14Cys), gnomAD rs986783978, AlphaMissense 0.13, MetaLR 0.00, Uncertain significance, Hypoproteinemia, hypercatabolic
- S14F (p.Ser14Phe), rs986783978, NCI-TCGA TCGA novel, gnomAD rs986783978, AlphaMissense 0.13, MetaLR 0.00, Variant assessed as somatic; high impact.
- S14P (p.Ser14Pro), TOPMed rs956925311, gnomAD rs956925311, MetaLR 0.01, MetaSVM -0.92
- S14S (p.Ser14Ser), rs1341857550, gnomAD 15-44711588-T-C, CADD 4.60
- L15F (p.Leu15Phe), rs1329285364, gnomAD rs1329285364, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62563, MetaLR 0.01, MetaSVM -0.93, Variant assessed as somatic; moderate impact.
- L15P (p.Leu15Pro), cosmic curated COSV62563, MetaLR 0.02, MetaSVM -1.05
- L15V (p.Leu15Val), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62564, MetaLR 0.01, MetaSVM -0.98, Variant assessed as somatic; moderate impact.
- L15I (p.Leu15Ile), gnomAD 15-44711589-C-A, MetaLR 0.01, MetaSVM -0.98
- L15L (p.Leu15Leu), rs2141284603, gnomAD 15-44711591-T-C, CADD 9.02
- S16A (p.Ser16Ala), NCI-TCGA Cosmic COSV6256, MetaLR 0.00, MetaSVM -0.93, Variant assessed as somatic; high impact.
- S16C (p.Ser16Cys), TOPMed rs1435611656, gnomAD rs1435611656, MetaLR 0.01, MetaSVM -0.91
- S16F (p.Ser16Phe), TOPMed rs1435611656, gnomAD rs1435611656, MetaLR 0.01, MetaSVM -0.93
- S16P (p.Ser16Pro), gnomAD 15-44711592-T-C, MetaLR 0.00, MetaSVM -0.93
- G17A (p.Gly17Ala), TOPMed rs1196771735, gnomAD rs1196771735, Uncertain significance
- G17C (p.Gly17Cys), Ensembl rs2141284610
- G17D (p.Gly17Asp), rs1196771735, TOPMed rs1196771735, gnomAD rs1196771735, ClinGen CA392232217, MetaLR 0.01, MetaSVM -0.96, Uncertain significance, Hypoproteinemia, hypercatabolic
- G17V (p.Gly17Val), TOPMed rs1196771735, gnomAD rs1196771735, MetaLR 0.01, MetaSVM -0.94, Uncertain significance
- L18M (p.Leu18Met), Ensembl rs2141284625
- L18R (p.Leu18Arg), cosmic curated COSV62563
- L18V (p.Leu18Val), rs2141284625, ClinGen CA392232221, ClinVar RCV002893947, AlphaMissense 0.11, MetaLR 0.02, Uncertain significance, Hypoproteinemia, hypercatabolic
- L18P (p.Leu18Pro), gnomAD 15-44711599-T-C, MetaLR 0.02, MetaSVM -1.18
- L18L (p.Leu18Leu), rs2141284630, gnomAD 15-44711600-G-A, CADD 14.70
- E19* (p.Glu19Ter), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62563, Ensembl rs2141284637, Variant assessed as somatic; high impact.
- E19G (p.Glu19Gly), Ensembl rs2141284642, cosmic curated COSV10968
- E19Q (p.Glu19Gln), Ensembl rs2141284637
- E19V (p.Glu19Val), Ensembl rs2141284642, MetaLR 0.01, MetaSVM -0.94
- E19E (p.Glu19Glu), gnomAD 15-44711603-G-A, CADD 8.66
- A20G (p.Ala20Gly), Ensembl rs2141284653, CADD 23.00, PolyPhen-2 0.10
- A20P (p.Ala20Pro), cosmic curated COSV62563
- A20T (p.Ala20Thr), Ensembl rs2141284649, SIFT 0.06
- I21F (p.Ile21Phe), ExAC rs757230673, TOPMed rs757230673, gnomAD rs757230673, SIFT 0.08, Uncertain significance
- I21L (p.Ile21Leu), ExAC rs757230673, TOPMed rs757230673, gnomAD rs757230673, CADD 8.29, PolyPhen-2 0.00, Uncertain significance, Hypoproteinemia, hypercatabolic
- I21V (p.Ile21Val), rs757230673, ExAC rs757230673, TOPMed rs757230673, gnomAD rs757230673, CADD 0.78, PolyPhen-2 0.00, Uncertain significance, Hypoproteinemia, hypercatabolic
- I21I (p.Ile21Ile), rs572886094, gnomAD 15-44711609-C-A, CADD 4.30
- Q22* (p.Gln22Ter), Ensembl rs2141284672, cosmic curated COSV62564
- Q22L (p.Gln22Leu), gnomAD rs1213728428, SIFT 0.27
- Q22R (p.Gln22Arg), gnomAD rs1213728428, CADD 9.08, PolyPhen-2 0.04
- Q22Q (p.Gln22Gln), rs745772508, gnomAD 15-44711612-G-A, CADD 8.49
- R23C (p.Arg23Cys), Ensembl rs2141284688, Uncertain significance, Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- R23G (p.Arg23Gly), Ensembl rs2141284688, Uncertain significance
- R23S (p.Arg23Ser), Ensembl rs2141284688, SIFT 0.68, Uncertain significance
- T24A (p.Thr24Ala), TOPMed rs772675028, gnomAD rs772675028, CADD 0.00, PolyPhen-2 0.00
- T24I (p.Thr24Ile), Ensembl rs2141288483, cosmic curated COSV62565, SIFT 0.22
- P25P (p.Pro25Pro), gnomAD 15-44715430-A-G, CADD 3.16
- K26E (p.Lys26Glu), cosmic curated COSV62563
- K26N (p.Lys26Asn), cosmic curated COSV62565, CADD 16.10, PolyPhen-2 0.04
- K26R (p.Lys26Arg), NCI-TCGA TCGA novel, SIFT 0.14, Variant assessed as somatic; moderate impact.
- I27M (p.Ile27Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I27N (p.Ile27Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- I27T (p.Ile27Thr), cosmic curated COSV62564, SIFT 0.03
- I27F (p.Ile27Phe), gnomAD 15-44715434-A-T, CADD 8.90, PolyPhen-2 0.08
- Q28* (p.Gln28Ter), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, Variant assessed as somatic; high impact.
- Q28L (p.Gln28Leu), cosmic curated COSV62566
- Q28R (p.Gln28Arg), TOPMed rs1169506926, cosmic curated COSV10083, SIFT 0.00
- V29F (p.Val29Phe), rs1304731273, gnomAD rs1304731273, ClinGen CA392232608, ClinVar RCV001043536, CADD 27.10, PolyPhen-2 1.00, Uncertain significance, Hypoproteinemia, hypercatabolic
- V29G (p.Val29Gly), cosmic curated COSV62564, SIFT 0.00
- V29I (p.Val29Ile), gnomAD 15-44715440-G-A, CADD 24.60, PolyPhen-2 0.60
- Y30* (p.Tyr30Ter), cosmic curated COSV62564, Ensembl rs2141288490, cosmic curated COSV62565
- Y30H (p.Tyr30His), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62564, Variant assessed as somatic; moderate impact.
- Y30N (p.Tyr30Asn), cosmic curated COSV10466, SIFT 0.00
- Y30Y (p.Tyr30Tyr), rs2141288490, gnomAD 15-44715445-C-T, CADD 3.26
- S31* (p.Ser31Ter), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62564, Ensembl rs2141288496, Variant assessed as somatic; high impact.
- S31L (p.Ser31Leu), Ensembl rs2141288496, cosmic curated COSV10527, SIFT 0.00
- R32C (p.Arg32Cys), rs11553032, gnomAD rs11553032, ClinGen CA270116950, ClinVar RCV002824765, CADD 25.40, PolyPhen-2 0.99, Uncertain significance, Hypoproteinemia, hypercatabolic
- R32G (p.Arg32Gly), gnomAD rs11553032, Uncertain significance
- R32H (p.Arg32His), TOPMed rs2086930091, gnomAD rs2086930091, CADD 25.20, PolyPhen-2 0.54
- R32P (p.Arg32Pro), TOPMed rs2086930091, gnomAD rs2086930091, SIFT 0.00
- H33D (p.His33Asp), Ensembl rs2141288510
- H33Q (p.His33Gln), Ensembl rs2141288516
- H33R (p.His33Arg), gnomAD rs1232827683
- H33Y (p.His33Tyr), Ensembl rs2141288510, SIFT 0.32
- P34A (p.Pro34Ala), TOPMed rs11553035, CADD 23.20, PolyPhen-2 0.97
- P34F (p.Pro34Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- P34L (p.Pro34Leu), gnomAD rs1261957968, CADD 25.30, PolyPhen-2 0.97
- P34S (p.Pro34Ser), TOPMed rs11553035, SIFT 0.01
- P34P (p.Pro34Pro), gnomAD 15-44715457-A-G, CADD 1.06
- A35E (p.Ala35Glu), Ensembl rs2141288532
- A35G (p.Ala35Gly), Ensembl rs2141288532
- A35P (p.Ala35Pro), Ensembl rs2141288530
- A35S (p.Ala35Ser), Ensembl rs2141288530
- A35T (p.Ala35Thr), Ensembl rs2141288530
- A35V (p.Ala35Val), Ensembl rs2141288532, NCI-TCGA TCGA novel, SIFT 0.59, Variant assessed as somatic; moderate impact.
- A35A (p.Ala35Ala), rs1350819434, gnomAD 15-44715460-A-G, CADD 7.12
- E36* (p.Glu36Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E36D (p.Glu36Asp), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62563, Ensembl rs2141288537, SIFT 0.12, Variant assessed as somatic; moderate impact.
- E36K (p.Glu36Lys), rs1204151497, gnomAD rs1204151497, ClinGen CA392232655, ClinVar RCV002020729, CADD 23.10, PolyPhen-2 0.14, Uncertain significance, Hypoproteinemia, hypercatabolic
- E36Q (p.Glu36Gln), gnomAD rs1204151497, CADD 20.40, PolyPhen-2 0.09, Uncertain significance
- E36E (p.Glu36Glu), rs2141288537, gnomAD 15-44715463-G-A, CADD 8.02
- N37S (p.Asn37Ser), ExAC rs758354239, gnomAD rs758354239, CADD 16.40, PolyPhen-2 0.01
- N37Y (p.Asn37Tyr), Ensembl rs2141288541, SIFT 1.00
- G38A (p.Gly38Ala), TOPMed rs1191507697
- G38E (p.Gly38Glu), TOPMed rs1191507697
- G38R (p.Gly38Arg), Ensembl rs2141288544
- G38V (p.Gly38Val), TOPMed rs1191507697, SIFT 0.04
- G38G (p.Gly38Gly), rs1455449641, gnomAD 15-44715469-A-G, CADD 10.90
- K39E (p.Lys39Glu), rs2506043131, ClinGen CA392232677, ClinVar RCV004423434, Uncertain significance, Inborn genetic diseases
- K39M (p.Lys39Met), Ensembl rs2141288554
- K39N (p.Lys39Asn), Ensembl rs2141288561
- K39R (p.Lys39Arg), Ensembl rs2141288554, SIFT 0.05
- K39T (p.Lys39Thr), gnomAD 15-44715471-A-C, CADD 24.10, PolyPhen-2 0.60
- S40* (p.Ser40Ter), Ensembl rs2141288571, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62563, Variant assessed as somatic; high impact.
- S40A (p.Ser40Ala), Ensembl rs2141288566, CADD 8.24, PolyPhen-2 0.00
- S40L (p.Ser40Leu), Ensembl rs2141288571
- S40T (p.Ser40Thr), Ensembl rs2141288566
- N41F (p.Asn41Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N41H (p.Asn41His), cosmic curated COSV62564
- N41I (p.Asn41Ile), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10083, NCI-TCGA Cosmic COSV6256, Variant assessed as somatic; moderate impact.
- N41K (p.Asn41Lys), Ensembl rs2141288579
- N41Y (p.Asn41Tyr), Ensembl rs2141288576, SIFT 0.00
- F42I (p.Phe42Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F42L (p.Phe42Leu), Ensembl rs11553038, SIFT 0.19, Likely benign
- F42F (p.Phe42Phe), rs568062567, gnomAD 15-44715481-C-T, CADD 11.10
- L43M (p.Leu43Met), ExAC rs746798638, gnomAD rs746798638
- L43P (p.Leu43Pro), Ensembl rs2141288597, cosmic curated COSV62562
- L43R (p.Leu43Arg), cosmic curated COSV62567
- L43V (p.Leu43Val), ExAC rs746798638, gnomAD rs746798638, SIFT 0.05
- N44D (p.Asn44Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
Public B2M analysis runs
- B2M analysis run — B2M (525 variants) — completed 2026-08-19