CD8B (P10966) variants and mutations
CD8B (also known as P10966) is a human protein-coding gene encoding a t-cell surface glycoprotein CD8 beta chain protein. It pairs with CD8A to form the predominant CD8 coreceptor on cytotoxic T cells, stabilizing interactions with MHC class I and facilitating antigen-receptor signaling. Disruption can impair development or function of the CD8 T-cell compartment. This analysis covers 381 CD8B variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes HIV infectious disease, Jaundice, and stroke disorder. Example CD8B variants include R2Q, R2W, and P3L.
Variant analysis overview
- Gene: CD8B
- Protein: P10966
- UniProt accession: P10966
- Organism: Homo sapiens
- Variants analyzed: 381
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 274 unspecified-consequence records; 3 stop retained variant; 10 stop lost; 67 missense variants; 11 synonymous variants; 9 frameshift variants; 5 stop-gained variants; 1 in-frame deletions; 1 splice-region variants
- Prediction scores: 363 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: HIV infectious disease, Jaundice, stroke disorder, alcohol drinking, tinea unguium, Granuloma, neoplasm, infection, lymphoma, diffuse large B-cell lymphoma, coinfection, acute lymphoblastic leukemia.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 2 post-translational modification sites.
- Structural context: 194 variants have structural context.
- PTM context: 7 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 CD8B variants
Examples include R2Q, R2W, P3L, P3Q, P3R, R4L, R4P, L5M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- R2Q (p.Arg2Gln), TOPMed rs1676623026, REVEL 0.04, MetaLR 0.02
- R2W (p.Arg2Trp), Ensembl rs1274868984, REVEL 0.09, MetaLR 0.16
- P3L (p.Pro3Leu), Ensembl rs1027597679, REVEL 0.16, MetaLR 0.22
- P3Q (p.Pro3Gln), Ensembl rs1027597679, REVEL 0.07, MetaLR 0.22
- P3R (p.Pro3Arg), Ensembl rs1027597679, REVEL 0.06, MetaLR 0.22
- R4L (p.Arg4Leu), TOPMed rs964575377, gnomAD rs964575377, REVEL 0.07, MetaLR 0.18
- R4P (p.Arg4Pro), TOPMed rs964575377, gnomAD rs964575377, REVEL 0.12, MetaLR 0.22
- L5M (p.Leu5Met), gnomAD rs1676621266, REVEL 0.01, MetaLR 0.06, Uncertain significance, not specified
- W6C (p.Trp6Cys), ExAC rs767490181, TOPMed rs767490181, gnomAD rs767490181, REVEL 0.17, MetaLR 0.14
- W6R (p.Trp6Arg), gnomAD rs1370189782, REVEL 0.17, MetaLR 0.27
- L7F (p.Leu7Phe), gnomAD rs1167021963, REVEL 0.12, MetaLR 0.27
- L7I (p.Leu7Ile), gnomAD rs1167021963, REVEL 0.09, MetaLR 0.27
- L8F (p.Leu8Phe), gnomAD rs1446657426, REVEL 0.28, MetaLR 0.27
- L9* (p.Leu9Ter), ExAC rs751398411, gnomAD rs751398411
- L9F (p.Leu9Phe), TOPMed rs1235619545, gnomAD rs1235619545, REVEL 0.01, MetaLR 0.06
- L9S (p.Leu9Ser), ExAC rs751398411, gnomAD rs751398411, REVEL 0.24, MetaLR 0.20
- A10D (p.Ala10Asp), TOPMed rs1483060992, gnomAD rs1483060992, REVEL 0.30, MetaLR 0.22
- A10T (p.Ala10Thr), gnomAD rs1206703754, REVEL 0.06, MetaLR 0.20
- A10V (p.Ala10Val), TOPMed rs1483060992, gnomAD rs1483060992, REVEL 0.05, MetaLR 0.16
- A11E (p.Ala11Glu), TOPMed rs1202642059, gnomAD rs1202642059, REVEL 0.32, MetaLR 0.23
- A11T (p.Ala11Thr), gnomAD rs1273262945, REVEL 0.06, MetaLR 0.15
- A11V (p.Ala11Val), rs1202642059, TOPMed rs1202642059, gnomAD rs1202642059, REVEL 0.03, MetaLR 0.06, Variant assessed as somatic; moderate impact.
- Q12* (p.Gln12Ter), gnomAD rs1313919313, CADD 34.00
- Q12R (p.Gln12Arg), gnomAD rs1228056594, REVEL 0.15, MetaLR 0.16
- T14I (p.Thr14Ile), TOPMed rs1379382102, REVEL 0.02, MetaLR 0.05
- V15A (p.Val15Ala), gnomAD rs1440421078, REVEL 0.06, MetaLR 0.02
- V15L (p.Val15Leu), gnomAD rs1281715212, REVEL 0.07, MetaLR 0.07
- L16F (p.Leu16Phe), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, Variant assessed as somatic; moderate impact.
- L16I (p.Leu16Ile), NCI-TCGA Cosmic COSV1005, Variant assessed as somatic; moderate impact.
- H17Q (p.His17Gln), cosmic curated COSV10523, 1000Genomes rs137953763, ESP rs137953763, ExAC rs137953763, REVEL 0.04, MetaLR 0.07
- H17R (p.His17Arg), ESP rs368650240, ExAC rs368650240, TOPMed rs368650240, gnomAD rs368650240, REVEL 0.03, MetaLR 0.04
- G18S (p.Gly18Ser), TOPMed rs1229601797, gnomAD rs1229601797, REVEL 0.14, MetaLR 0.11
- N19S (p.Asn19Ser), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, MetaLR 0.02, MetaSVM -0.98, Variant assessed as somatic; moderate impact.
- S20A (p.Ser20Ala), TOPMed rs1350377646, gnomAD rs1350377646, REVEL 0.16, MetaLR 0.27
- S20L (p.Ser20Leu), TOPMed rs1286567328, gnomAD rs1286567328, REVEL 0.08, MetaLR 0.18, Uncertain significance, not specified
- V21L (p.Val21Leu), TOPMed rs1676396524, REVEL 0.12, MetaLR 0.19
- L22F (p.Leu22Phe), cosmic curated COSV58927, ESP rs146795196, ExAC rs146795196, TOPMed rs146795196, REVEL 0.20, MetaLR 0.42
- L22I (p.Leu22Ile), ESP rs146795196, ExAC rs146795196, TOPMed rs146795196, gnomAD rs146795196, REVEL 0.18, MetaLR 0.33
- Q23H (p.Gln23His), TOPMed rs1394552067, gnomAD rs1394552067, REVEL 0.21, MetaLR 0.42
- Q23K (p.Gln23Lys), TOPMed rs1676395461, Uncertain significance, not specified
- P26H (p.Pro26His), cosmic curated COSV10051, MetaLR 0.48, MetaSVM -0.48
- A27T (p.Ala27Thr), gnomAD rs1293097913, REVEL 0.11, MetaLR 0.16
- A27V (p.Ala27Val), gnomAD rs1391620375, REVEL 0.10, MetaLR 0.13
- Y28* (p.Tyr28Ter), TOPMed rs1434579280, gnomAD rs1434579280
- K30N (p.Lys30Asn), ESP rs140325048, ExAC rs140325048, TOPMed rs140325048, gnomAD rs140325048, REVEL 0.06, MetaLR 0.12
- Q32* (p.Gln32Ter), TOPMed rs1427222469
- K35M (p.Lys35Met), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, Variant assessed as somatic; moderate impact.
- K35N (p.Lys35Asn), ExAC rs751251633, REVEL 0.02, MetaLR 0.08
- K35Q (p.Lys35Gln), NCI-TCGA TCGA novel, MetaLR 0.08, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- M36I (p.Met36Ile), NCI-TCGA Cosmic COSV5892, cosmic curated COSV58926, Variant assessed as somatic; moderate impact.
- M36K (p.Met36Lys), TOPMed rs953935080, gnomAD rs953935080, MetaLR 0.10, MetaSVM -0.95
- M36T (p.Met36Thr), TOPMed rs953935080, gnomAD rs953935080, REVEL 0.04, MetaLR 0.10
- M36V (p.Met36Val), ExAC rs763949278, gnomAD rs763949278, REVEL 0.06, MetaLR 0.18
- V37A (p.Val37Ala), ExAC rs758188273, TOPMed rs758188273, gnomAD rs758188273, REVEL 0.21, MetaLR 0.15
- M38V (p.Met38Val), cosmic curated COSV58926, REVEL 0.03, MetaLR 0.11
- L39V (p.Leu39Val), ExAC rs752375575, gnomAD rs752375575, REVEL 0.45, MetaLR 0.43
- S40F (p.Ser40Phe), ESP rs371965937, ExAC rs371965937, TOPMed rs371965937, gnomAD rs371965937, REVEL 0.22, MetaLR 0.45, Uncertain significance, not specified
- S40P (p.Ser40Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C41* (p.Cys41Ter), ExAC rs759079246, TOPMed rs759079246, gnomAD rs759079246, CADD 24.10
- C41S (p.Cys41Ser), gnomAD rs1190328641, REVEL 0.71, MetaLR 0.70
- C41Y (p.Cys41Tyr), gnomAD rs1487289172, REVEL 0.68, MetaLR 0.72
- E42* (p.Glu42Ter), ExAC rs753422558, TOPMed rs753422558, gnomAD rs753422558, CADD 25.00
- E42K (p.Glu42Lys), rs753422558, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, ExAC rs753422558, REVEL 0.06, MetaLR 0.09, Uncertain significance, not specified
- A43T (p.Ala43Thr), TOPMed rs1277076160, gnomAD rs1277076160, REVEL 0.10, MetaLR 0.17
- K44N (p.Lys44Asn), Ensembl rs2104583694, MetaLR 0.15, MetaSVM -0.95
- I45T (p.Ile45Thr), rs761248929, ClinGen CA1751601, ClinVar RCV004107083, ExAC rs761248929, REVEL 0.08, MetaLR 0.02, Likely benign, not specified
- S46F (p.Ser46Phe), cosmic curated COSV10523, MetaLR 0.21, MetaSVM -0.97
- L47I (p.Leu47Ile), cosmic curated COSV58928
- L47V (p.Leu47Val), Ensembl rs1558764127, REVEL 0.08, MetaLR 0.16
- N49I (p.Asn49Ile), TOPMed rs1676388101, MetaLR 0.23, MetaSVM -0.84
- M50T (p.Met50Thr), cosmic curated COSV99045, REVEL 0.18, MetaLR 0.03
- R51C (p.Arg51Cys), 1000Genomes rs11558603, ExAC rs11558603, gnomAD rs11558603, REVEL 0.21, MetaLR 0.20
- R51H (p.Arg51His), rs772468080, NCI-TCGA Cosmic COSV5892, cosmic curated COSV58928, ExAC rs772468080, REVEL 0.11, MetaLR 0.25, Uncertain significance, not specified
- R51S (p.Arg51Ser), 1000Genomes rs11558603, ExAC rs11558603, gnomAD rs11558603, REVEL 0.06, MetaLR 0.10
- I52M (p.Ile52Met), Ensembl rs1676387417, MetaLR 0.13, MetaSVM -1.05
- Y53C (p.Tyr53Cys), cosmic curated COSV10644, MetaLR 0.46, MetaSVM -0.20
- W54* (p.Trp54Ter), Ensembl rs1676387241
- Q57* (p.Gln57Ter), Ensembl rs1212023507
- R58C (p.Arg58Cys), rs774522740, ExAC rs774522740, TOPMed rs774522740, gnomAD rs774522740, REVEL 0.10, MetaLR 0.21, Variant assessed as somatic; moderate impact.
- R58H (p.Arg58His), 1000Genomes rs184840038, ExAC rs184840038, TOPMed rs184840038, gnomAD rs184840038, REVEL 0.17, MetaLR 0.30
- R58L (p.Arg58Leu), cosmic curated COSV58926, 1000Genomes rs184840038, ExAC rs184840038, TOPMed rs184840038, REVEL 0.07, MetaLR 0.14
- A60T (p.Ala60Thr), rs1248329743, ClinGen CA347581352, ClinVar RCV004337159, TOPMed rs1248329743, REVEL 0.03, MetaLR 0.20, Uncertain significance, not specified
- A60V (p.Ala60Val), TOPMed rs1676385603, MetaLR 0.12, MetaSVM -0.94
- P61L (p.Pro61Leu), 1000Genomes rs140127269, ESP rs140127269, ExAC rs140127269, TOPMed rs140127269, REVEL 0.03, MetaLR 0.03
- P61S (p.Pro61Ser), rs967089228, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, TOPMed rs967089228, REVEL 0.08, MetaLR 0.08, Uncertain significance, not specified
- S62R (p.Ser62Arg), ExAC rs746956335, gnomAD rs746956335, REVEL 0.19, MetaLR 0.28
- S62T (p.Ser62Thr), TOPMed rs1377748160, gnomAD rs1377748160, REVEL 0.10, MetaLR 0.16
- D64A (p.Asp64Ala), gnomAD rs1391581209
- D64E (p.Asp64Glu), TOPMed rs1676383575
- S65N (p.Ser65Asn), gnomAD rs1189628254, REVEL 0.13, MetaLR 0.29
- S65T (p.Ser65Thr), cosmic curated COSV10440, MetaLR 0.39, MetaSVM -0.74
- H66Y (p.His66Tyr), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, Variant assessed as somatic; moderate impact.
- H67Q (p.His67Gln), ExAC rs752467151, TOPMed rs752467151, gnomAD rs752467151, REVEL 0.08, MetaLR 0.12
- H67Y (p.His67Tyr), cosmic curated COSV58926, ExAC rs758184342, TOPMed rs758184342, gnomAD rs758184342, REVEL 0.08, MetaLR 0.09
- E68K (p.Glu68Lys), 1000Genomes rs576844921, ExAC rs576844921, TOPMed rs576844921, gnomAD rs576844921, REVEL 0.37, MetaLR 0.40
- F69I (p.Phe69Ile), cosmic curated COSV58926, MetaLR 0.20, MetaSVM -0.88
- A71V (p.Ala71Val), ExAC rs765982501, gnomAD rs765982501, REVEL 0.08, MetaLR 0.08
- L72V (p.Leu72Val), gnomAD rs1486058695, REVEL 0.05, MetaLR 0.12
- W73* (p.Trp73Ter), 1000Genomes rs142966127, ESP rs142966127, ExAC rs142966127, TOPMed rs142966127, CADD 34.00
- D74N (p.Asp74Asn), rs767948136, NCI-TCGA Cosmic COSV5892, cosmic curated COSV58928, ExAC rs767948136, REVEL 0.03, MetaLR 0.18, Variant assessed as somatic; moderate impact.
- S75Y (p.Ser75Tyr), NCI-TCGA TCGA novel, MetaLR 0.40, MetaSVM -0.93, Variant assessed as somatic; moderate impact.
- A76S (p.Ala76Ser), NCI-TCGA Cosmic COSV5892, cosmic curated COSV58926, MetaLR 0.08, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- A76T (p.Ala76Thr), cosmic curated COSV58928, ESP rs150505433, ExAC rs150505433, TOPMed rs150505433, REVEL 0.04, MetaLR 0.08
- K77E (p.Lys77Glu), gnomAD rs1397756224, REVEL 0.12, MetaLR 0.27
- G78E (p.Gly78Glu), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, Variant assessed as somatic; moderate impact.
- G78R (p.Gly78Arg), gnomAD rs1402775866, REVEL 0.16, MetaLR 0.37
- T79P (p.Thr79Pro), NCI-TCGA Cosmic COSV5892, cosmic curated COSV58925, REVEL 0.03, MetaLR 0.15, Variant assessed as somatic; moderate impact.
- I80L (p.Ile80Leu), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, Variant assessed as somatic; moderate impact.
- I80T (p.Ile80Thr), cosmic curated COSV58926, MetaLR 0.11, MetaSVM -1.03
- H81N (p.His81Asn), cosmic curated COSV58926
- H81Y (p.His81Tyr), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, NCI-TCGA Cosmic COSV5892, Variant assessed as somatic; moderate impact.
- G82C (p.Gly82Cys), ExAC rs775751696, TOPMed rs775751696, gnomAD rs775751696, REVEL 0.16, MetaLR 0.38
- G82D (p.Gly82Asp), Ensembl rs866734476, MetaLR 0.28, MetaSVM -0.80
- G82R (p.Gly82Arg), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, REVEL 0.17, MetaLR 0.37, Variant assessed as somatic; moderate impact.
- G82S (p.Gly82Ser), ExAC rs775751696, TOPMed rs775751696, gnomAD rs775751696, REVEL 0.12, MetaLR 0.23
- E84D (p.Glu84Asp), TOPMed rs949845224, REVEL 0.06, MetaLR 0.24
- E86D (p.Glu86Asp), TOPMed rs896939012, gnomAD rs896939012, REVEL 0.02, MetaLR 0.10
- Q87H (p.Gln87His), ExAC rs777728790, gnomAD rs777728790, REVEL 0.13, MetaLR 0.37
- Q87R (p.Gln87Arg), rs1446544258, TOPMed rs1446544258, gnomAD rs1446544258, REVEL 0.03, MetaLR 0.15, Variant assessed as somatic; moderate impact.
- E88K (p.Glu88Lys), cosmic curated COSV10523, TOPMed rs1192831331, gnomAD rs1192831331, REVEL 0.06, MetaLR 0.13
- I90M (p.Ile90Met), Ensembl rs2104582953, REVEL 0.27, MetaLR 0.25
- I90T (p.Ile90Thr), TOPMed rs1424922092, gnomAD rs1424922092, REVEL 0.20, MetaLR 0.23
- A91D (p.Ala91Asp), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, MetaLR 0.09, MetaSVM -1.01, Variant assessed as somatic; moderate impact.
- A91V (p.Ala91Val), Ensembl rs1676376030, REVEL 0.04, MetaLR 0.09
- F93L (p.Phe93Leu), ExAC rs771926098, TOPMed rs771926098, gnomAD rs771926098, REVEL 0.07, MetaLR 0.11, Uncertain significance, not specified
- R94P (p.Arg94Pro), cosmic curated COSV58925, 1000Genomes rs201066720, ESP rs201066720, ExAC rs201066720, REVEL 0.10, MetaLR 0.00
- R94Q (p.Arg94Gln), 1000Genomes rs201066720, ESP rs201066720, ExAC rs201066720, TOPMed rs201066720, REVEL 0.14, MetaLR 0.09
- R94W (p.Arg94Trp), rs747895168, NCI-TCGA Cosmic COSV5892, cosmic curated COSV58924, ExAC rs747895168, REVEL 0.14, MetaLR 0.41, Variant assessed as somatic; moderate impact.
- A96V (p.Ala96Val), TOPMed rs1310724979, gnomAD rs1310724979, REVEL 0.11, MetaLR 0.15
- S97G (p.Ser97Gly), ExAC rs779620836, TOPMed rs779620836, gnomAD rs779620836, REVEL 0.21, MetaLR 0.31
- S97R (p.Ser97Arg), cosmic curated COSV58927, REVEL 0.15, MetaLR 0.28
- R98L (p.Arg98Leu), ExAC rs768017195, TOPMed rs768017195, gnomAD rs768017195, REVEL 0.06, MetaLR 0.16, Uncertain significance, not specified
- R98Q (p.Arg98Gln), rs768017195, ClinGen CA1751562, ClinVar RCV004302590, ExAC rs768017195, REVEL 0.13, MetaLR 0.11, Uncertain significance, not specified
- R98W (p.Arg98Trp), rs755618216, ExAC rs755618216, TOPMed rs755618216, gnomAD rs755618216, REVEL 0.26, MetaLR 0.45, Variant assessed as somatic; moderate impact.
- I100F (p.Ile100Phe), ExAC rs751852075, TOPMed rs751852075, gnomAD rs751852075, REVEL 0.06, MetaLR 0.08
- L101P (p.Leu101Pro), gnomAD rs1311840738, REVEL 0.81, MetaLR 0.74
- N102I (p.Asn102Ile), gnomAD rs1412857667, REVEL 0.18, MetaLR 0.18
- L103F (p.Leu103Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S105C (p.Ser105Cys), cosmic curated COSV58927
- S105R (p.Ser105Arg), ExAC rs764433373, TOPMed rs764433373, gnomAD rs764433373, REVEL 0.08, MetaLR 0.08
- V106L (p.Val106Leu), 1000Genomes rs367817222, ESP rs367817222, ExAC rs367817222, TOPMed rs367817222, REVEL 0.07, MetaLR 0.13
- V106M (p.Val106Met), 1000Genomes rs367817222, ESP rs367817222, ExAC rs367817222, TOPMed rs367817222, REVEL 0.29, MetaLR 0.45
- K107R (p.Lys107Arg), ExAC rs775661607, TOPMed rs775661607, gnomAD rs775661607, REVEL 0.15, MetaLR 0.29
- P108L (p.Pro108Leu), TOPMed rs1393805545, gnomAD rs1393805545, REVEL 0.14, MetaLR 0.14
- E109G (p.Glu109Gly), ExAC rs765411219, gnomAD rs765411219, REVEL 0.17, MetaLR 0.26
- E109K (p.Glu109Lys), cosmic curated COSV10523
- D110G (p.Asp110Gly), NCI-TCGA Cosmic COSV5892, cosmic curated COSV58926, MetaLR 0.81, MetaSVM 0.79, Variant assessed as somatic; moderate impact.
- D110N (p.Asp110Asn), NCI-TCGA TCGA novel, REVEL 0.63, MetaLR 0.82, Variant assessed as somatic; moderate impact.
- S111R (p.Ser111Arg), rs1676370602, ClinGen CA347580766, ClinVar RCV004435574, Ensembl rs1676370602, REVEL 0.64, MetaLR 0.56, Uncertain significance, not specified
- G112C (p.Gly112Cys), cosmic curated COSV10883
- I113F (p.Ile113Phe), TOPMed rs1368246577, gnomAD rs1368246577, REVEL 0.11, MetaLR 0.12
- I113N (p.Ile113Asn), Ensembl rs1573528910
- I113S (p.Ile113Ser), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, MetaLR 0.19, MetaSVM -0.88, Variant assessed as somatic; moderate impact.
- I113V (p.Ile113Val), TOPMed rs1368246577, gnomAD rs1368246577, REVEL 0.06, MetaLR 0.05
- F115V (p.Phe115Val), Ensembl rs1217481298, MetaLR 0.39, MetaSVM -0.29
- C116Y (p.Cys116Tyr), cosmic curated COSV10605, REVEL 0.81, MetaLR 0.72
- M117I (p.Met117Ile), cosmic curated COSV10523, MetaLR 0.19, MetaSVM -0.88
- M117T (p.Met117Thr), rs759614077, ClinGen CA1751555, ClinVar RCV004149903, ExAC rs759614077, REVEL 0.08, MetaLR 0.14, Uncertain significance, not specified
- V119F (p.Val119Phe), 1000Genomes rs375735227, ESP rs375735227, ExAC rs375735227, TOPMed rs375735227, REVEL 0.13, MetaLR 0.18, Likely benign
- V119I (p.Val119Ile), rs375735227, ClinGen CA1751554, NCI-TCGA Cosmic COSV5892, cosmic curated COSV58925, REVEL 0.04, MetaLR 0.06, Likely benign, not specified
- G120R (p.Gly120Arg), rs774487455, ClinGen CA1751551, cosmic curated COSV58925, ClinVar RCV004084621, REVEL 0.11, MetaLR 0.32, Uncertain significance, not specified
- P122L (p.Pro122Leu), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, MetaLR 0.36, MetaSVM -0.71, Variant assessed as somatic; moderate impact.
- E123G (p.Glu123Gly), ExAC rs779715103, gnomAD rs779715103, MetaLR 0.14, MetaSVM -1.01
- E123K (p.Glu123Lys), rs749133219, ExAC rs749133219, TOPMed rs749133219, gnomAD rs749133219, REVEL 0.07, MetaLR 0.12, Variant assessed as somatic; moderate impact.
- T125I (p.Thr125Ile), ExAC rs755741417, TOPMed rs755741417, gnomAD rs755741417, REVEL 0.04, MetaLR 0.13
- T125N (p.Thr125Asn), ExAC rs755741417, TOPMed rs755741417, gnomAD rs755741417, REVEL 0.14, MetaLR 0.35
- G127E (p.Gly127Glu), cosmic curated COSV10738
- G127R (p.Gly127Arg), rs1288449111, ClinGen CA347580661, ClinVar RCV004435576, TOPMed rs1288449111, REVEL 0.71, MetaLR 0.57, Uncertain significance, not specified
- G127V (p.Gly127Val), rs2466679432, ClinGen CA347580656, ClinVar RCV004111534, Uncertain significance, not specified
- K128N (p.Lys128Asn), gnomAD rs1325190945, REVEL 0.02, MetaLR 0.15
- K128Q (p.Lys128Gln), ExAC rs780567812, gnomAD rs780567812, REVEL 0.12, MetaLR 0.17
- K128R (p.Lys128Arg), ExAC rs756823674, gnomAD rs756823674, REVEL 0.06, MetaLR 0.17
- G129* (p.Gly129Ter), ExAC rs752042896, gnomAD rs752042896, CADD 37.00
- G129E (p.Gly129Glu), NCI-TCGA Cosmic COSV5892, cosmic curated COSV58928, Variant assessed as somatic; moderate impact.
- G129R (p.Gly129Arg), cosmic curated COSV10464
- T130A (p.Thr130Ala), ESP rs373675213, ExAC rs373675213, gnomAD rs373675213
- T130S (p.Thr130Ser), ESP rs373675213, ExAC rs373675213, gnomAD rs373675213, MetaLR 0.46, MetaSVM -0.54
- Q131* (p.Gln131Ter), Ensembl rs1676364343
- S133N (p.Ser133Asn), ExAC rs758724392, gnomAD rs758724392, REVEL 0.08, MetaLR 0.18
- S133R (p.Ser133Arg), NCI-TCGA Cosmic COSV5892, cosmic curated COSV58925, REVEL 0.10, MetaLR 0.20, Variant assessed as somatic; moderate impact.
Public CD8B analysis runs
- CD8B analysis run — CD8B (381 variants) — completed 2026-08-20