BCL10 (B-cell lymphoma/leukemia 10) variants and mutations
BCL10 (also known as B-cell lymphoma/leukemia 10) is a human protein-coding gene encoding a b-cell lymphoma/leukemia 10 protein. It forms part of the CARD11-BCL10-MALT1 signaling complex that couples antigen-receptor activation to NF-kappaB signaling in lymphocytes. Biallelic loss can cause combined immunodeficiency, while dysregulated signaling contributes to certain lymphomas. This analysis covers 478 BCL10 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes immunodeficiency 37, MALT lymphoma, and testicular germ cell tumor. Example BCL10 variants include M1L, E2D, and E2E.
Variant analysis overview
- Gene: BCL10
- Protein: B-cell lymphoma/leukemia 10
- UniProt accession: O95999
- Organism: Homo sapiens
- Variants analyzed: 478
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 248 unspecified-consequence records; 2 stop lost; 104 synonymous variants; 94 missense variants; 5 stop-gained variants; 13 frameshift variants; 7 in-frame deletions; 2 in-frame insertions; 2 splice-region variants; 1 substitution
- Prediction scores: 379 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: immunodeficiency 37, MALT lymphoma, testicular germ cell tumor, follicular lymphoma, diffuse large B-cell lymphoma, mesothelioma, lung carcinoma, multiple sclerosis, carcinoma of liver and intrahepatic biliary tract, T-cell acute lymphoblastic leukemia, colon carcinoma, Sezary syndrome.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 post-translational modification sites.
- Structural context: 151 variants have structural context.
- PTM context: 2 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, MaveDB, LitVar.
Notable BCL10 variants
Examples include M1L, E2D, E2E, P3P, T4S, T4T, T4A, A5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs2527119955, ClinGen CA340952957, ClinVar RCV002823708, Uncertain significance, Immunodeficiency 37
- E2D (p.Glu2Asp), 1000Genomes rs200626032, ESP rs200626032, ExAC rs200626032, TOPMed rs200626032, CADD 23.80, PolyPhen-2 0.33, Likely benign
- E2E (p.Glu2Glu), rs200626032, gnomAD 1-85276347-C-T, CADD 14.70
- P3P (p.Pro3Pro), rs201883949, gnomAD 1-85276344-G-A, CADD 15.20
- T4S (p.Thr4Ser), gnomAD rs1490837511, CADD 16.60, PolyPhen-2 0.00
- T4T (p.Thr4Thr), rs1292365915, gnomAD 1-85276341-G-A, CADD 13.30
- T4A (p.Thr4Ala), gnomAD 1-85276343-T-C, CADD 15.20, PolyPhen-2 0.00
- A5G (p.Ala5Gly), rs778423633, ClinGen CA929837, ClinVar RCV003586964, ExAC rs778423633, CADD 20.80, PolyPhen-2 0.00, Uncertain significance, Immunodeficiency 37
- A5S (p.Ala5Ser), rs12037217, ClinGen CA929838, cosmic curated COSV65354, ClinVar RCV000532322, CADD 21.80, PolyPhen-2 0.00, Benign/Likely benign, Immunodeficiency 37; not specified; not provided
- A5V (p.Ala5Val), gnomAD 1-85276339-G-A, CADD 19.20, PolyPhen-2 0.00
- A5T (p.Ala5Thr), gnomAD 1-85276340-C-T, CADD 23.50, PolyPhen-2 0.01
- P6L (p.Pro6Leu), cosmic curated COSV65353, TOPMed rs1660531805, gnomAD rs1660531805, CADD 15.50, PolyPhen-2 0.00
- P6Q (p.Pro6Gln), cosmic curated COSV65354, TOPMed rs1660531805, gnomAD rs1660531805, Uncertain significance, Inborn genetic diseases
- P6A (p.Pro6Ala), gnomAD 1-85276337-G-C, CADD 23.60, PolyPhen-2 0.01
- P6S (p.Pro6Ser), gnomAD 1-85276337-G-A, CADD 24.10, PolyPhen-2 0.05
- S7C (p.Ser7Cys), rs1268648553, ClinGen CA340952917, ClinVar RCV003044110, TOPMed rs1268648553, AlphaMissense 0.16, MetaLR 0.03, Uncertain significance, Immunodeficiency 37
- S7F (p.Ser7Phe), rs1268648553, TOPMed rs1268648553, gnomAD rs1268648553, AlphaMissense 0.16, MetaLR 0.03, Uncertain significance
- S7P (p.Ser7Pro), gnomAD rs1660531734, CADD 23.40, PolyPhen-2 0.00
- S7Y (p.Ser7Tyr), TOPMed rs1268648553, gnomAD rs1268648553, AlphaMissense 0.16, MetaLR 0.03, Uncertain significance
- S7S (p.Ser7Ser), gnomAD 1-85276332-G-T, CADD 14.50
- L8I (p.Leu8Ile), cosmic curated COSV10099, gnomAD rs1229802365, CADD 25.00, PolyPhen-2 0.98
- L8L (p.Leu8Leu), rs11576939, gnomAD 1-85276329-G-A, CADD 12.40
- L8P (p.Leu8Pro), gnomAD 1-85276330-A-G, CADD 32.00, PolyPhen-2 1.00
- T9T (p.Thr9Thr), rs779616837, gnomAD 1-85276326-G-A, CADD 12.30
- T9S (p.Thr9Ser), gnomAD 1-85276328-T-A, CADD 23.80, PolyPhen-2 0.12
- E10A (p.Glu10Ala), cosmic curated COSV65353, TOPMed rs944883661, gnomAD rs944883661, CADD 24.80, PolyPhen-2 0.02, Uncertain significance, Inborn genetic diseases
- E10D (p.Glu10Asp), gnomAD rs1368050684, CADD 21.10, PolyPhen-2 0.00
- E10K (p.Glu10Lys), rs1403156514, ClinGen CA340952902, ClinVar RCV001970460, TOPMed rs1403156514, CADD 24.60, PolyPhen-2 0.00, Uncertain significance, Immunodeficiency 37
- E10Q (p.Glu10Gln), TOPMed rs1403156514, gnomAD rs1403156514, CADD 24.10, SIFT 0.00, Uncertain significance
- E11E (p.Glu11Glu), rs755937538, gnomAD 1-85276320-C-T, CADD 13.30
- D12E (p.Asp12Glu), TOPMed rs1409773736, gnomAD rs1409773736, CADD 17.20, PolyPhen-2 0.01, Uncertain significance, Immunodeficiency 37
- D12D (p.Asp12Asp), rs1409773736, gnomAD 1-85276317-G-A, CADD 13.90
- D12G (p.Asp12Gly), gnomAD 1-85276318-T-C, CADD 26.70, PolyPhen-2 0.43
- D12A (p.Asp12Ala), gnomAD 1-85276318-T-G, CADD 25.90, PolyPhen-2 0.29
- D12N (p.Asp12Asn), gnomAD 1-85276319-C-T, CADD 24.90, PolyPhen-2 0.43
- L13L (p.Leu13Leu), rs750303514, gnomAD 1-85276314-G-C, CADD 11.10
- T14T (p.Thr14Thr), gnomAD 1-85276311-A-C, CADD 7.01
- T14A (p.Thr14Ala), gnomAD 1-85276313-T-C, CADD 21.80, PolyPhen-2 0.00
- T14P (p.Thr14Pro), gnomAD 1-85276313-T-G, CADD 25.40, PolyPhen-2 0.19
- E15D (p.Glu15Asp), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10099, Variant assessed as somatic; moderate impact.
- V16E (p.Val16Glu), UniProt VAR 013209, Uncertain significance
- K17R (p.Lys17Arg), gnomAD rs1169292747, CADD 32.00, PolyPhen-2 0.97
- K18E (p.Lys18Glu), 1000Genomes rs2100755350, CADD 32.00, PolyPhen-2 0.99
- K18N (p.Lys18Asn), ExAC rs757265980, TOPMed rs757265980, gnomAD rs757265980, CADD 25.60, PolyPhen-2 1.00, Likely benign
- K18T (p.Lys18Thr), Ensembl rs1660530352
- K18K (p.Lys18Lys), rs757265980, gnomAD 1-85276299-C-T, CADD 13.90
- D19V (p.Asp19Val), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65353, Variant assessed as somatic; moderate impact.
- A20T (p.Ala20Thr), rs1660354259, ClinGen CA340952143, ClinVar RCV001307153, gnomAD rs1660354259, MetaLR 0.09, MetaSVM -1.14, Uncertain significance, Immunodeficiency 37
- A20A (p.Ala20Ala), gnomAD 1-85270904-G-T, CADD 12.30
- A20P (p.Ala20Pro), gnomAD 1-85270906-C-G, MetaLR 0.12, MetaSVM -1.04
- L21L (p.Leu21Leu), rs753875241, gnomAD 1-85270901-T-C, CADD 11.20
- E22del (p.Glu22del), gnomAD 1-85270897-TTTC-T, CADD 19.50
- N23D (p.Asn23Asp), Ensembl rs1557787184, MetaLR 0.01, MetaSVM -1.03
- L24* (p.Leu24Ter), gnomAD 1-85270893-A-C, CADD 37.00
- R25C (p.Arg25Cys), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65354, Ensembl rs2100748133, MetaLR 0.15, MetaSVM -0.79, Variant assessed as somatic; moderate impact.
- R25H (p.Arg25His), cosmic curated COSV65353, TOPMed rs1281752374, gnomAD rs1281752374
- V26I (p.Val26Ile), rs2100748126, ClinGen CA340952059, ClinVar RCV001373081, Ensembl rs2100748126, MetaLR 0.02, MetaSVM -1.03, Uncertain significance, Immunodeficiency 37
- V26V (p.Val26Val), rs771239853, gnomAD 1-85270886-T-C, CADD 5.07
- L28L (p.Leu28Leu), rs760915277, gnomAD 1-85270882-G-A, CADD 6.85
- K31E (p.Lys31Glu), UniProt VAR 013210, Uncertain significance
- I32L (p.Ile32Leu), Ensembl rs1557787167, MetaLR 0.02, MetaSVM -1.06
- I32I (p.Ile32Ile), gnomAD 1-85270868-G-T, CADD 10.80
- I32N (p.Ile32Asn), gnomAD 1-85270869-A-AT, CADD 31.00
- I33M (p.Ile33Met), Ensembl rs2100748100
- I33V (p.Ile33Val), gnomAD rs1334285674, MetaLR 0.11, MetaSVM -1.05
- A34A (p.Ala34Ala), rs1660353173, gnomAD 1-85270862-A-G, CADD 11.80
- E35Q (p.Glu35Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H37N (p.His37Asn), gnomAD 1-85270855-G-T, MetaLR 0.08, MetaSVM -1.14
- F38L (p.Phe38Leu), gnomAD 1-85270850-A-C, MetaLR 0.03, MetaSVM -1.02
- D39N (p.Asp39Asn), Ensembl rs1660352996
- D39E (p.Asp39Glu), gnomAD 1-85270847-A-T, MetaLR 0.12, MetaSVM -0.97
- H40R (p.His40Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H40del (p.His40del), gnomAD 1-85270842-AGAT-A, CADD 19.50
- H40N (p.His40Asn), gnomAD 1-85270846-G-T, MetaLR 0.02, MetaSVM -1.10
- L41L (p.Leu41Leu), rs767842296, gnomAD 1-85270841-T-C, CADD 5.83
- R42C (p.Arg42Cys), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65353, Ensembl rs2100748058, MetaLR 0.13, MetaSVM -0.99, Variant assessed as somatic; moderate impact.
- R42H (p.Arg42His), Ensembl rs1660352619, MetaLR 0.05, MetaSVM -1.09
- A43E (p.Ala43Glu), Ensembl rs199860465, MetaLR 0.03, MetaSVM -1.11
- A43T (p.Ala43Thr), Ensembl rs2100748046, MetaLR 0.02, MetaSVM -1.07
- A43A (p.Ala43Ala), gnomAD 1-85270835-T-G, CADD 11.60
- A43V (p.Ala43Val), gnomAD 1-85270836-G-A, MetaLR 0.03, MetaSVM -1.11
- K44K (p.Lys44Lys), rs762201657, gnomAD 1-85270832-T-C, CADD 11.30
- K45Q (p.Lys45Gln), UniProt VAR 013211
- I46V (p.Ile46Val), gnomAD rs1398422300, MetaLR 0.04, MetaSVM -1.08
- I46Y (p.Ile46Tyr), rs387906351, gnomAD 1-85270827-AT-A, CADD 27.70
- I46N (p.Ile46Asn), rs387906351, gnomAD 1-85270827-A-AT, CADD 28.40
- I46L (p.Ile46Leu), gnomAD 1-85270828-T-A, MetaLR 0.09, MetaSVM -1.06
- L47I (p.Leu47Ile), gnomAD rs1159027621
- L47L (p.Leu47Leu), rs545282295, gnomAD 1-85270823-G-A, CADD 9.79
- S48N (p.Ser48Asn), gnomAD rs1383082214, MetaLR 0.01, MetaSVM -1.00
- R49R (p.Arg49Arg), rs1185198557, gnomAD 1-85270817-T-C, CADD 14.50
- E50K (p.Glu50Lys), Ensembl rs2100747986
- E50Q (p.Glu50Gln), Ensembl rs2100747986
- D51H (p.Asp51His), rs1570333814, ClinGen CA340951867, ClinVar RCV000806279, Ensembl rs1570333814, AlphaMissense 0.99, MetaLR 0.12, Uncertain significance, Immunodeficiency 37
- T52I (p.Thr52Ile), UniProt VAR 013212, Uncertain significance, Inborn genetic diseases
- T52T (p.Thr52Thr), gnomAD 1-85270808-A-C, CADD 10.60
- T52S (p.Thr52Ser), gnomAD 1-85270810-T-A, MetaLR 0.04, MetaSVM -1.14
- E53G (p.Glu53Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E53K (p.Glu53Lys), NCI-TCGA Cosmic COSV6535, Ensembl rs1660351317, Variant assessed as somatic; moderate impact.
- E54D (p.Glu54Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E54* (p.Glu54Ter), gnomAD 1-85270804-C-A, CADD 36.00
- I55M (p.Ile55Met), ExAC rs769105226, TOPMed rs769105226, gnomAD rs769105226, MetaLR 0.25, MetaSVM -0.48, Likely benign
- I55I (p.Ile55Ile), rs769105226, gnomAD 1-85270799-A-T, CADD 12.60
- S56Y (p.Ser56Tyr), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10099, Variant assessed as somatic; moderate impact.
- S56A (p.Ser56Ala), gnomAD 1-85270798-A-C, MetaLR 0.05, MetaSVM -1.10
- C57R (p.Cys57Arg), UniProt VAR 013213, Uncertain significance
- C57W (p.Cys57Trp), rs1445301845, gnomAD 1-85270791-CGA-C, CADD 28.30
- C57Y (p.Cys57Tyr), gnomAD 1-85270794-C-T, MetaLR 0.08, MetaSVM -1.14
- R58* (p.Arg58Ter), rs121918314, ClinGen CA118079, cosmic curated COSV65353, ClinVar RCV000006644, AlphaMissense 0.88, MetaLR 0.05, Pathogenic
- R58G (p.Arg58Gly), rs121918314, ClinGen CA118077, ClinVar RCV000006643, UniProt VAR 013214, AlphaMissense 0.88, MetaLR 0.05, Pathogenic, MALE GERM CELL TUMOR, SOMATIC
- R58Q (p.Arg58Gln), rs2100747931, cosmic curated COSV65354, UniProt VAR 013215, Ensembl rs2100747931, MetaLR 0.01, MetaSVM -1.06, Likely oncogenic, Neoplasm
- T59T (p.Thr59Thr), rs762470627, gnomAD 1-85270787-T-C, CADD 8.56
- S60S (p.Ser60Ser), gnomAD 1-85270784-T-C, CADD 11.90
- S61G (p.Ser61Gly), rs542952039, ClinGen CA929795, ClinVar RCV000699388, 1000Genomes rs542952039, MetaLR 0.16, MetaSVM -0.89, Uncertain significance, Immunodeficiency 37
- R62K (p.Arg62Lys), Ensembl rs2100747916
- R62S (p.Arg62Ser), cosmic curated COSV10746, Ensembl rs1570333724
- R62R (p.Arg62Arg), gnomAD 1-85270778-T-C, CADD 11.40
- R62G (p.Arg62Gly), gnomAD 1-85270780-T-C, MetaLR 0.02, MetaSVM -1.07
- R64G (p.Arg64Gly), Ensembl rs2100747895, Uncertain significance
- R64K (p.Arg64Lys), UniProt VAR 013216, MetaLR 0.02, MetaSVM -1.03, Uncertain significance
- A65T (p.Ala65Thr), 1000Genomes rs573975640, ExAC rs573975640, gnomAD rs573975640, MetaLR 0.02, MetaSVM -1.04
- G66R (p.Gly66Arg), Ensembl rs2100747881
- K67T (p.Lys67Thr), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10099, NCI-TCGA Cosmic COSV6535, Variant assessed as somatic; moderate impact.
- K67R (p.Lys67Arg), gnomAD 1-85270764-T-C, MetaLR 0.06, MetaSVM -1.11
- L68L (p.Leu68Leu), rs749530949, gnomAD 1-85270762-A-G, CADD 9.59
- L69L (p.Leu69Leu), rs745539994, gnomAD 1-85270759-A-G, CADD 11.40
- D70D (p.Asp70Asp), rs1248593087, gnomAD 1-85270754-G-A, CADD 10.20
- D70G (p.Asp70Gly), gnomAD 1-85270755-T-C, MetaLR 0.13, MetaSVM -0.94
- Y71* (p.Tyr71Ter), TOPMed rs1336038922, gnomAD rs1336038922, CADD 36.00
- Y71C (p.Tyr71Cys), cosmic curated COSV10529, Ensembl rs1660350135
- L72F (p.Leu72Phe), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65354, Variant assessed as somatic; moderate impact.
- Q73* (p.Gln73Ter), rs1660349948, ClinGen CA340951584, ClinVar RCV003007445, Ensembl rs1660349948, Pathogenic
- Q73E (p.Gln73Glu), gnomAD 1-85270747-G-C, MetaLR 0.01, MetaSVM -1.08
- E74D (p.Glu74Asp), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10099, Variant assessed as somatic; moderate impact.
- N75H (p.Asn75His), Ensembl rs926882267
- N75N (p.Asn75Asn), rs1660349788, gnomAD 1-85270739-G-A, CADD 9.42
- P76P (p.Pro76Pro), rs980956314, gnomAD 1-85270736-T-C, CADD 10.60
- P76S (p.Pro76Ser), gnomAD 1-85270738-G-A, MetaLR 0.22, MetaSVM -0.74
- K77E (p.Lys77Glu), TOPMed rs1383124410, gnomAD rs1383124410, MetaLR 0.04, MetaSVM -1.09
- G78V (p.Gly78Val), gnomAD 1-85270731-C-A, MetaLR 0.10, MetaSVM -1.09
- L79M (p.Leu79Met), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65353, Variant assessed as somatic; moderate impact.
- L79L (p.Leu79Leu), rs368714977, gnomAD 1-85270727-C-T, CADD 4.41
- D80E (p.Asp80Glu), gnomAD rs1269185603, MetaLR 0.05, MetaSVM -1.13
- D80G (p.Asp80Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D80D (p.Asp80Asp), rs1269185603, gnomAD 1-85270724-G-A, CADD 9.00
- T81T (p.Thr81Thr), rs1428066499, gnomAD 1-85270721-G-T, CADD 7.13
- V83I (p.Val83Ile), gnomAD 1-85270717-C-T, MetaLR 0.01, MetaSVM -0.94
- I86L (p.Ile86Leu), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10099, Variant assessed as somatic; moderate impact.
- I86M (p.Ile86Met), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65354, Variant assessed as somatic; moderate impact.
- I86V (p.Ile86Val), rs1346396823, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10099, MetaLR 0.11, MetaSVM -0.97, Variant assessed as somatic; moderate impact.
- I86I (p.Ile86Ile), rs1660348675, gnomAD 1-85270706-A-G, CADD 10.10
- R87Q (p.Arg87Gln), rs187744101, ClinGen CA929792, cosmic curated COSV65353, ClinVar RCV001299878, MetaLR 0.10, MetaSVM -1.11, Uncertain significance, Immunodeficiency 37
- R87W (p.Arg87Trp), rs949558985, NCI-TCGA Cosmic COSV1044, cosmic curated COSV10442, TOPMed rs949558985, MetaLR 0.03, MetaSVM -1.10, Variant assessed as somatic; moderate impact.
- R87R (p.Arg87Arg), rs773109957, gnomAD 1-85270703-C-T, CADD 6.85
- R88* (p.Arg88Ter), cosmic curated COSV10943, ExAC rs770819167, TOPMed rs770819167, gnomAD rs770819167, CADD 35.00
- R88G (p.Arg88Gly), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65353, Variant assessed as somatic; moderate impact.
- R88Q (p.Arg88Gln), rs147850504, ClinGen CA929790, cosmic curated COSV65353, ClinVar RCV001219468, MetaLR 0.04, MetaSVM -1.12, Uncertain significance, Immunodeficiency 37
- E89A (p.Glu89Ala), ESP rs368393957, ExAC rs368393957, TOPMed rs368393957, gnomAD rs368393957, MetaLR 0.11, MetaSVM -1.05
- E89G (p.Glu89Gly), ESP rs368393957, ExAC rs368393957, TOPMed rs368393957, gnomAD rs368393957, MetaLR 0.05, MetaSVM -1.07
- E89E (p.Glu89Glu), rs1660347695, gnomAD 1-85270697-T-C, CADD 10.50
- T91P (p.Thr91Pro), rs1660347523, ClinGen CA340951314, ClinVar RCV001059967, Ensembl rs1660347523, AlphaMissense 0.92, MetaLR 0.19, Uncertain significance, Immunodeficiency 37
- T91T (p.Thr91Thr), rs1186086482, gnomAD 1-85270691-T-A, CADD 9.55
- T91N (p.Thr91Asn), rs1027681039, gnomAD 1-85270692-G-GT, CADD 32.00
- T91S (p.Thr91Ser), gnomAD 1-85270693-T-A, MetaLR 0.16, MetaSVM -0.94
- Q92H (p.Gln92His), NCI-TCGA Cosmic COSV6535, cosmic curated COSV65353, Variant assessed as somatic; moderate impact.
- Q92E (p.Gln92Glu), rs1660347320, gnomAD 1-85270688-CTG-C, CADD 31.00
- Q92Q (p.Gln92Gln), rs1474467737, gnomAD 1-85270688-C-T, CADD 9.83
- N93S (p.Asn93Ser), rs1660347136, UniProt VAR 013217, gnomAD rs1660347136, MetaLR 0.02, MetaSVM -1.06
- F94S (p.Phe94Ser), ExAC rs753911557, gnomAD rs753911557, MetaLR 0.19, MetaSVM -0.76
- L95L (p.Leu95Leu), rs780017880, gnomAD 1-85270679-C-G, CADD 6.31
- I96M (p.Ile96Met), ESP rs142355465, ExAC rs142355465, gnomAD rs142355465
- I96V (p.Ile96Val), rs1660346727, ClinGen CA1139656183, ClinVar RCV001202698, Ensembl rs1660346727, MetaLR 0.02, MetaSVM -1.06, Uncertain significance, Inborn genetic diseases; Immunodeficiency 37
- Q97E (p.Gln97Glu), rs150019339, ClinGen CA929783, ClinVar RCV001204862, 1000Genomes rs150019339, MetaLR 0.02, MetaSVM -1.06, Uncertain significance, Immunodeficiency 37
- Q97R (p.Gln97Arg), Ensembl rs1240160400, MetaLR 0.04, MetaSVM -1.07
- Q97Q (p.Gln97Gln), gnomAD 1-85270673-C-T, CADD 9.79
- Q97* (p.Gln97Ter), gnomAD 1-85270675-G-A, CADD 37.00
- Q97K (p.Gln97Lys), gnomAD 1-85270675-G-T, MetaLR 0.04, MetaSVM -1.10
- K98N (p.Lys98Asn), ExAC rs762156408, TOPMed rs762156408, gnomAD rs762156408, Likely benign
- K98R (p.Lys98Arg), Ensembl rs1660345957
- K98del (p.Lys98del), gnomAD 1-85270668-ATCT-A, CADD 18.70
Public BCL10 analysis runs
- BCL10 analysis run — BCL10 (478 variants) — completed 2026-08-20