CD8A (P01732) variants and mutations
CD8A (also known as P01732) is a human protein-coding gene encoding a t-cell surface glycoprotein CD8 alpha chain protein. It helps cytotoxic T cells recognize peptide-loaded MHC class I molecules and strengthens T-cell receptor signaling during immune surveillance. Deficiency can impair cytotoxic T-cell responses, while CD8 expression is widely used to identify and characterize cytotoxic lymphocytes. This analysis covers 563 CD8A variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes tinea unguium, progressive supranuclear palsy, and stroke disorder. Example CD8A variants include A2S, A2T, and A2V.
Variant analysis overview
- Gene: CD8A
- Protein: P01732
- UniProt accession: P01732
- Organism: Homo sapiens
- Variants analyzed: 563
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 351 unspecified-consequence records; 66 synonymous variants; 12 frameshift variants; 121 missense variants; 4 splice-region variants; 6 stop-gained variants; 2 in-frame deletions; 4 substitution
- Prediction scores: 537 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: tinea unguium, progressive supranuclear palsy, stroke disorder, neoplasm, hepatocellular carcinoma, infection, COVID-19, cancer, melanoma, tuberculosis, colorectal carcinoma, influenza.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains.
- Structural context: 226 variants have structural context.
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 CD8A variants
Examples include A2S, A2T, A2V, L3F, L3S, L8F, L9F, L9P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2S (p.Ala2Ser), gnomAD rs1213286200, REVEL 0.30, MetaLR 0.57
- A2T (p.Ala2Thr), gnomAD rs1213286200, REVEL 0.32, MetaLR 0.49
- A2V (p.Ala2Val), gnomAD rs1486552202, REVEL 0.33, MetaLR 0.48
- L3F (p.Leu3Phe), TOPMed rs1673268085, gnomAD rs1673268085, REVEL 0.19, MetaLR 0.19
- L3S (p.Leu3Ser), rs1673268223, ClinGen CA347577513, ClinVar RCV001039298, Ensembl rs1673268223, REVEL 0.20, MetaLR 0.07, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- L8F (p.Leu8Phe), NCI-TCGA TCGA novel, REVEL 0.26, MetaLR 0.45, Variant assessed as somatic; moderate impact.
- L9F (p.Leu9Phe), gnomAD rs1218773931, REVEL 0.63, MetaLR 0.69
- L9P (p.Leu9Pro), TOPMed rs1339275163, gnomAD rs1339275163, REVEL 0.83, MetaLR 0.71
- L10R (p.Leu10Arg), rs1275959844, ClinGen CA347577468, ClinVar RCV001957834, gnomAD rs1275959844, REVEL 0.74, MetaLR 0.61, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- P11L (p.Pro11Leu), gnomAD rs1403388702, REVEL 0.22, MetaLR 0.29
- P11S (p.Pro11Ser), gnomAD rs1416223134, REVEL 0.35, MetaLR 0.43
- A13P (p.Ala13Pro), rs754177445, ClinGen CA1751314, ClinVar RCV001319871, ExAC rs754177445, REVEL 0.29, MetaLR 0.34, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- A13S (p.Ala13Ser), ExAC rs754177445, TOPMed rs754177445, gnomAD rs754177445, REVEL 0.19, MetaLR 0.31, Uncertain significance
- A13V (p.Ala13Val), ExAC rs766551828, gnomAD rs766551828, REVEL 0.20, MetaLR 0.25
- L15R (p.Leu15Arg), TOPMed rs1673265301, gnomAD rs1673265301, REVEL 0.69, MetaLR 0.61
- L16=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- L16F (p.Leu16Phe), rs200750291, ClinGen CA1751311, ClinVar RCV000893563, ClinVar RCV004711378, REVEL 0.53, MetaLR 0.65, Likely benign, not provided; not specified; Susceptibility to respiratory infections associated
- H17D (p.His17Asp), TOPMed rs868233441, gnomAD rs868233441
- H17N (p.His17Asn), TOPMed rs868233441, gnomAD rs868233441, REVEL 0.17, MetaLR 0.33
- A18S (p.Ala18Ser), rs1401592907, ClinGen CA347577418, ClinVar RCV002266351, TOPMed rs1401592907, REVEL 0.24, MetaLR 0.34, Uncertain significance, not specified
- A19S (p.Ala19Ser), rs1161733294, TOPMed rs1161733294, gnomAD rs1161733294, REVEL 0.28, MetaLR 0.42, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- A19T (p.Ala19Thr), TOPMed rs1161733294, gnomAD rs1161733294, REVEL 0.25, MetaLR 0.30
- R20S (p.Arg20Ser), ExAC rs752636744, gnomAD rs752636744, REVEL 0.10, MetaLR 0.25, Likely benign
- P21L (p.Pro21Leu), ExAC rs764996911, TOPMed rs764996911, gnomAD rs764996911, REVEL 0.20, MetaLR 0.33
- P21R (p.Pro21Arg), ExAC rs764996911, TOPMed rs764996911, gnomAD rs764996911, REVEL 0.13, MetaLR 0.36
- S22G (p.Ser22Gly), rs1673252532, ClinGen CA916081309, ClinVar RCV001050403, Ensembl rs1673252532, REVEL 0.16, MetaLR 0.32, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Q23H (p.Gln23His), gnomAD rs1013942703, REVEL 0.07, MetaLR 0.14
- Q23K (p.Gln23Lys), ESP rs146997954, TOPMed rs146997954, gnomAD rs146997954, REVEL 0.05, MetaLR 0.10
- F24S (p.Phe24Ser), TOPMed rs1673251596, MetaLR 0.32, MetaSVM -0.41
- R25L (p.Arg25Leu), ExAC rs760120446, TOPMed rs760120446, gnomAD rs760120446, REVEL 0.21, MetaLR 0.17
- R25Q (p.Arg25Gln), ExAC rs760120446, TOPMed rs760120446, gnomAD rs760120446, MetaLR 0.28, MetaSVM -0.53
- R25W (p.Arg25Trp), gnomAD rs1428537849, REVEL 0.24, MetaLR 0.28
- V26L (p.Val26Leu), rs771549955, ClinGen CA1751277, ClinVar RCV002922335, ExAC rs771549955, REVEL 0.04, MetaLR 0.07, Uncertain significance, not specified
- S27* (p.Ser27Ter), NCI-TCGA Cosmic COSV9937, Variant assessed as somatic; high impact.
- S27L (p.Ser27Leu), cosmic curated COSV99374, REVEL 0.17, MetaLR 0.27
- P28L (p.Pro28Leu), TOPMed rs1240747782, gnomAD rs1240747782, REVEL 0.21, MetaLR 0.40
- P28S (p.Pro28Ser), cosmic curated COSV52156, MetaLR 0.45, MetaSVM -0.47
- R31W (p.Arg31Trp), Ensembl rs1573461818, REVEL 0.27, MetaLR 0.27
- W33S (p.Trp33Ser), cosmic curated COSV52157, MetaLR 0.20, MetaSVM -0.92
- L35Q (p.Leu35Gln), rs1673249799, ClinGen CA347577311, ClinVar RCV001049689, Ensembl rs1673249799, AlphaMissense 0.13, MetaLR 0.18, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- E37K (p.Glu37Lys), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52158, Variant assessed as somatic; moderate impact.
- E37Q (p.Glu37Gln), cosmic curated COSV52156, MetaLR 0.11, MetaSVM -0.99
- T38I (p.Thr38Ile), ExAC rs769109914, gnomAD rs769109914, REVEL 0.36, MetaLR 0.30
- V39A (p.Val39Ala), Ensembl rs1573461751
- V39L (p.Val39Leu), Ensembl rs1558735781
- E40K (p.Glu40Lys), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52156, gnomAD rs1673248357, Variant assessed as somatic; moderate impact.
- L41V (p.Leu41Val), Ensembl rs1052718780, REVEL 0.51, MetaLR 0.54
- K42T (p.Lys42Thr), Ensembl rs1558735771, REVEL 0.07, MetaLR 0.07
- Q44E (p.Gln44Glu), gnomAD rs1321629527, REVEL 0.15, MetaLR 0.10
- Q44R (p.Gln44Arg), rs1384141156, ClinGen CA347577251, ClinVar RCV002011352, TOPMed rs1384141156, REVEL 0.12, MetaLR 0.13, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- V45A (p.Val45Ala), ExAC rs745865801, TOPMed rs745865801, gnomAD rs745865801, REVEL 0.19, MetaLR 0.15
- L46R (p.Leu46Arg), rs1297804955, ClinGen CA347577238, ClinVar RCV001966575, gnomAD rs1297804955, REVEL 0.20, MetaLR 0.30, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- S48A (p.Ser48Ala), gnomAD rs1174295473, REVEL 0.19, MetaLR 0.46
- S48F (p.Ser48Phe), ExAC rs757331415, gnomAD rs757331415, REVEL 0.17, MetaLR 0.54
- N49D (p.Asn49Asp), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52157, MetaLR 0.22, MetaSVM -0.86, Variant assessed as somatic; moderate impact.
- N49S (p.Asn49Ser), 1000Genomes rs572196668, REVEL 0.05, MetaLR 0.11
- P50L (p.Pro50Leu), gnomAD rs1043882597, REVEL 0.04, MetaLR 0.08
- T51A (p.Thr51Ala), gnomAD rs1488978000, REVEL 0.17, MetaLR 0.06
- T51M (p.Thr51Met), ExAC rs778854751, TOPMed rs778854751, gnomAD rs778854751, REVEL 0.16, MetaLR 0.19
- T51R (p.Thr51Arg), ExAC rs778854751, TOPMed rs778854751, gnomAD rs778854751, REVEL 0.11, MetaLR 0.12
- S52* (p.Ser52Ter), ExAC rs200195023, gnomAD rs200195023, CADD 34.00
- S52L (p.Ser52Leu), ExAC rs200195023, gnomAD rs200195023, REVEL 0.09, MetaLR 0.16
- G53S (p.Gly53Ser), ExAC rs765952408, gnomAD rs765952408, REVEL 0.07, MetaLR 0.20
- C54* (p.Cys54Ter), TOPMed rs1377343275
- C54S (p.Cys54Ser), gnomAD rs1201564636, REVEL 0.33, MetaLR 0.35
- S55* (p.Ser55Ter), ExAC rs750103978, TOPMed rs750103978, gnomAD rs750103978, CADD 39.00
- S55L (p.Ser55Leu), ExAC rs750103978, TOPMed rs750103978, gnomAD rs750103978, REVEL 0.33, MetaLR 0.47
- S55W (p.Ser55Trp), ExAC rs750103978, TOPMed rs750103978, gnomAD rs750103978, REVEL 0.40, MetaLR 0.52
- L57F (p.Leu57Phe), TOPMed rs986711829, gnomAD rs986711829, REVEL 0.26, MetaLR 0.26
- F58Y (p.Phe58Tyr), rs934042284, ClinGen CA51408180, ClinVar RCV002634505, TOPMed rs934042284, REVEL 0.14, MetaLR 0.08, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- P60A (p.Pro60Ala), rs1673243221, ClinGen CA1267378010, ClinVar RCV001317017, Ensembl rs1673243221, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- P60L (p.Pro60Leu), cosmic curated COSV10511, ExAC rs769304073, TOPMed rs769304073, gnomAD rs769304073, REVEL 0.07, MetaLR 0.10
- P60R (p.Pro60Arg), ExAC rs769304073, TOPMed rs769304073, gnomAD rs769304073, REVEL 0.04, MetaLR 0.11
- P60S (p.Pro60Ser), rs574751755, ClinGen CA1751258, ClinVar RCV003861713, 1000Genomes rs574751755, REVEL 0.06, MetaLR 0.12, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- R61H (p.Arg61His), Ensembl rs1673242521
- R61P (p.Arg61Pro), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52159, MetaLR 0.03, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- R61S (p.Arg61Ser), cosmic curated COSV10637, REVEL 0.08, MetaLR 0.06
- G62S (p.Gly62Ser), TOPMed rs1392974752, gnomAD rs1392974752, REVEL 0.12, MetaLR 0.15
- A63G (p.Ala63Gly), rs537395900, ClinGen CA1751255, ClinVar RCV001336402, 1000Genomes rs537395900, REVEL 0.04, MetaLR 0.06, Conflicting interpretations, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- A63T (p.Ala63Thr), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52158, Variant assessed as somatic; moderate impact.
- A64P (p.Ala64Pro), ExAC rs75127573, TOPMed rs75127573, gnomAD rs75127573
- A64T (p.Ala64Thr), ExAC rs75127573, TOPMed rs75127573, gnomAD rs75127573, REVEL 0.23, MetaLR 0.25
- S66C (p.Ser66Cys), TOPMed rs1673239203, REVEL 0.20, MetaLR 0.32
- P67L (p.Pro67Leu), Ensembl rs972629415, MetaLR 0.53, MetaSVM -0.27
- P67T (p.Pro67Thr), gnomAD rs1467441165, REVEL 0.47, MetaLR 0.57
- F69V (p.Phe69Val), TOPMed rs1673238545, gnomAD rs1673238545, REVEL 0.16, MetaLR 0.19
- L70F (p.Leu70Phe), cosmic curated COSV10462, REVEL 0.24, MetaLR 0.46
- L71I (p.Leu71Ile), NCI-TCGA Cosmic COSV5215, Variant assessed as somatic; moderate impact.
- L71V (p.Leu71Val), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52157, Variant assessed as somatic; moderate impact.
- Y72* (p.Tyr72Ter), gnomAD rs1192515519, CADD 36.00
- Y72D (p.Tyr72Asp), Ensembl rs2104440255, REVEL 0.42, MetaLR 0.37
- L73R (p.Leu73Arg), rs1673237981, ClinGen CA347577077, ClinVar RCV001238046, Ensembl rs1673237981, AlphaMissense 0.80, MetaLR 0.17, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- L73V (p.Leu73Val), rs778769116, ClinGen CA1751249, ClinVar RCV002000843, ExAC rs778769116, REVEL 0.06, MetaLR 0.11, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- S74F (p.Ser74Phe), rs754918271, ClinGen CA1751248, ClinVar RCV001957931, ClinVar RCV004043041, REVEL 0.10, MetaLR 0.34, Uncertain significance, not specified; Susceptibility to respiratory infections associated with CD8alpha
- S74Y (p.Ser74Tyr), cosmic curated COSV52159, REVEL 0.12, MetaLR 0.40
- Q75L (p.Gln75Leu), rs1252346936, ClinGen CA347577067, ClinVar RCV001037206, TOPMed rs1252346936, REVEL 0.19, MetaLR 0.13, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- N76K (p.Asn76Lys), ExAC rs753843448, TOPMed rs753843448, gnomAD rs753843448, REVEL 0.04, MetaLR 0.09
- P78L (p.Pro78Leu), gnomAD rs1673237279, REVEL 0.12, MetaLR 0.12
- P78S (p.Pro78Ser), cosmic curated COSV52159, MetaLR 0.09, MetaSVM -0.94
- K79R (p.Lys79Arg), cosmic curated COSV99374, MetaLR 0.25, MetaSVM -0.85
- A80S (p.Ala80Ser), cosmic curated COSV52158, NCI-TCGA Cosmic COSV9937, cosmic curated COSV99374, MetaLR 0.07, MetaSVM -0.99, Variant assessed as somatic; moderate impact.
- A80T (p.Ala80Thr), ExAC rs779814071, gnomAD rs779814071, REVEL 0.09, MetaLR 0.06
- A80V (p.Ala80Val), cosmic curated COSV52158, ESP rs373928104, TOPMed rs373928104, gnomAD rs373928104, REVEL 0.07, MetaLR 0.05
- A81P (p.Ala81Pro), rs970275394, ClinGen CA347577030, ClinVar RCV003861535, TOPMed rs970275394, REVEL 0.25, MetaLR 0.30, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- A81T (p.Ala81Thr), rs970275394, ClinGen CA51408098, ClinVar RCV001051395, TOPMed rs970275394, REVEL 0.16, MetaLR 0.41, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- E82D (p.Glu82Asp), TOPMed rs1277197922, gnomAD rs1277197922, REVEL 0.05, MetaLR 0.09
- E82K (p.Glu82Lys), NCI-TCGA Cosmic COSV9937, cosmic curated COSV99374, Ensembl rs2104440141, REVEL 0.11, MetaLR 0.23, Variant assessed as somatic; moderate impact.
- E82Q (p.Glu82Gln), NCI-TCGA Cosmic COSV9937, Variant assessed as somatic; moderate impact.
- E82V (p.Glu82Val), Ensembl rs2104440131, MetaLR 0.21, MetaSVM -0.85
- G83E (p.Gly83Glu), TOPMed rs895100427
- G83R (p.Gly83Arg), rs750058603, ExAC rs750058603, TOPMed rs750058603, gnomAD rs750058603, REVEL 0.14, MetaLR 0.32, Variant assessed as somatic; moderate impact.
- G83W (p.Gly83Trp), ExAC rs750058603, TOPMed rs750058603, gnomAD rs750058603
- L84P (p.Leu84Pro), rs1056431594, NCI-TCGA Cosmic COSV5215, cosmic curated COSV52156, TOPMed rs1056431594, REVEL 0.15, MetaLR 0.35, Variant assessed as somatic; moderate impact.
- D85A (p.Asp85Ala), 1000Genomes rs558225181, ExAC rs558225181, gnomAD rs558225181, REVEL 0.07, MetaLR 0.19
- D85G (p.Asp85Gly), 1000Genomes rs558225181, ExAC rs558225181, gnomAD rs558225181, REVEL 0.08, MetaLR 0.27
- D85Y (p.Asp85Tyr), gnomAD rs1318750582, REVEL 0.13, MetaLR 0.23
- T86P (p.Thr86Pro), Ensembl rs1673235105, REVEL 0.03, MetaLR 0.04
- Q87* (p.Gln87Ter), gnomAD rs1285746419, CADD 27.90
- R88Q (p.Arg88Gln), TOPMed rs1673234503, MetaLR 0.45, MetaSVM -0.91
- R88W (p.Arg88Trp), TOPMed rs1448570283, gnomAD rs1448570283, REVEL 0.19, MetaLR 0.48, Likely benign
- F89L (p.Phe89Leu), ExAC rs764628330, TOPMed rs764628330, gnomAD rs764628330, REVEL 0.23, MetaLR 0.22
- S90L (p.Ser90Leu), cosmic curated COSV52158, REVEL 0.16, MetaLR 0.50
- S90P (p.Ser90Pro), rs1189100847, ClinGen CA347576975, ClinVar RCV003041517, TOPMed rs1189100847, REVEL 0.28, MetaLR 0.49, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- G91D (p.Gly91Asp), TOPMed rs1400434555, gnomAD rs1400434555, REVEL 0.29, AlphaMissense 0.92
- K92N (p.Lys92Asn), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52156, MetaLR 0.10, MetaSVM -0.97, Variant assessed as somatic; moderate impact.
- R93K (p.Arg93Lys), rs1673233249, ClinGen CA347576954, ClinVar RCV002029572, TOPMed rs1673233249, REVEL 0.12, MetaLR 0.07, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- R93S (p.Arg93Ser), rs2229240, ClinGen CA1751236, ClinVar RCV001046189, 1000Genomes rs2229240, REVEL 0.07, MetaLR 0.18, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- R93T (p.Arg93Thr), TOPMed rs1673233249, Uncertain significance
- R93W (p.Arg93Trp), TOPMed rs1463436877, MetaLR 0.12, MetaSVM -1.03
- D96F (p.Asp96Phe), rs1673232344, ClinGen CA1139657145, ClinVar RCV001238117, Ensembl rs1673232344, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- D96N (p.Asp96Asn), cosmic curated COSV10877, ExAC rs747029177, TOPMed rs747029177, gnomAD rs747029177, MetaLR 0.12, MetaSVM -1.05
- D96V (p.Asp96Val), ExAC rs777829827, TOPMed rs777829827, gnomAD rs777829827, REVEL 0.13, MetaLR 0.19
- D96Y (p.Asp96Tyr), ExAC rs747029177, TOPMed rs747029177, gnomAD rs747029177, REVEL 0.17, AlphaMissense 0.09
- T97A (p.Thr97Ala), TOPMed rs1213539942
- T97N (p.Thr97Asn), TOPMed rs1472696905, gnomAD rs1472696905, REVEL 0.08, AlphaMissense 0.10
- F98V (p.Phe98Val), NCI-TCGA TCGA novel, Ensembl rs1673231553, MetaLR 0.40, MetaSVM -0.47, Variant assessed as somatic; moderate impact.
- V99I (p.Val99Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L100F (p.Leu100Phe), rs79392961, ClinGen CA1751231, ClinVar RCV000544944, ClinVar RCV004708931, REVEL 0.58, MetaLR 0.26, Benign/Likely benign, not provided; not specified; Susceptibility to respiratory infections associated
- T101I (p.Thr101Ile), ExAC rs749203683, TOPMed rs749203683, gnomAD rs749203683, REVEL 0.44, MetaLR 0.47
- S103C (p.Ser103Cys), TOPMed rs1237645394, gnomAD rs1237645394, REVEL 0.35, MetaLR 0.40
- S103N (p.Ser103Asn), TOPMed rs1298269444, gnomAD rs1298269444, REVEL 0.19, MetaLR 0.17
- S103R (p.Ser103Arg), ExAC rs780004271, TOPMed rs780004271, gnomAD rs780004271
- D104A (p.Asp104Ala), Ensembl rs1673230400, REVEL 0.14, MetaLR 0.14
- D104E (p.Asp104Glu), Ensembl rs1573461306
- D104N (p.Asp104Asn), rs755895247, NCI-TCGA Cosmic COSV5215, cosmic curated COSV52158, REVEL 0.11, MetaLR 0.08, Variant assessed as somatic; moderate impact.
- D104Y (p.Asp104Tyr), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52156, REVEL 0.32, MetaLR 0.27, Variant assessed as somatic; moderate impact.
- F105L (p.Phe105Leu), gnomAD rs1233238261, REVEL 0.28, MetaLR 0.15
- R106C (p.Arg106Cys), rs200418942, ClinGen CA1751227, NCI-TCGA Cosmic COSV5215, cosmic curated COSV52157, REVEL 0.19, MetaLR 0.43, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- R106H (p.Arg106His), cosmic curated COSV52156, TOPMed rs1227939880, gnomAD rs1227939880, REVEL 0.08, MetaLR 0.14
- R107* (p.Arg107Ter), TOPMed rs1368517120, gnomAD rs1368517120
- R107Q (p.Arg107Gln), ExAC rs780835924, TOPMed rs780835924, gnomAD rs780835924, REVEL 0.06, MetaLR 0.12
- E108D (p.Glu108Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E108Q (p.Glu108Gln), TOPMed rs1421718882, MetaLR 0.16, MetaSVM -0.89
- N109I (p.Asn109Ile), gnomAD rs1673229148, REVEL 0.30, MetaLR 0.31
- N109S (p.Asn109Ser), cosmic curated COSV52158, MetaLR 0.19, MetaSVM -0.81
- E110* (p.Glu110Ter), cosmic curated COSV10637, CADD 35.00
- E110D (p.Glu110Asp), NCI-TCGA TCGA novel, ExAC rs756864143, gnomAD rs756864143, REVEL 0.24, MetaLR 0.22, Variant assessed as somatic; moderate impact.
- G111C (p.Gly111Cys), NCI-TCGA Cosmic COSV5215, cosmic curated COSV52158, ExAC rs121918660, TOPMed rs121918660, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- G111S (p.Gly111Ser), rs121918660, ClinGen CA122671, ClinVar RCV000013579, UniProt VAR 021020, REVEL 0.67, MetaLR 0.50, Pathogenic, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Y112C (p.Tyr112Cys), TOPMed rs17852285, gnomAD rs17852285, REVEL 0.45, MetaLR 0.42
- Y112H (p.Tyr112His), TOPMed rs1377480811, gnomAD rs1377480811, REVEL 0.40, MetaLR 0.32
- Y113N (p.Tyr113Asn), rs763683238, ClinGen CA1751224, ClinVar RCV000798426, ExAC rs763683238, REVEL 0.88, MetaLR 0.93, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Y113C (p.Tyr113Cys), NCI-TCGA TCGA novel, MetaLR 0.93, MetaSVM 1.05, Variant assessed as somatic; moderate impact.
- F114L (p.Phe114Leu), rs1351080881, ClinGen CA347576817, ClinVar RCV004154930, TOPMed rs1351080881, REVEL 0.41, MetaLR 0.40, Uncertain significance, not specified
- S116* (p.Ser116Ter), cosmic curated COSV52157, CADD 35.00
- S116L (p.Ser116Leu), rs1165098264, NCI-TCGA Cosmic COSV5215, cosmic curated COSV52156, REVEL 0.12, MetaLR 0.20, Variant assessed as somatic; moderate impact.
- A117V (p.Ala117Val), TOPMed rs1673227431, MetaLR 0.06, MetaSVM -1.01
- L118Q (p.Leu118Gln), rs753216829, ClinGen CA1751222, ClinVar RCV001295518, ExAC rs753216829, REVEL 0.13, MetaLR 0.37, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- L118R (p.Leu118Arg), ExAC rs753216829, TOPMed rs753216829, gnomAD rs753216829, REVEL 0.14, MetaLR 0.27, Uncertain significance
- S119R (p.Ser119Arg), rs146175810, ClinGen CA1751221, ClinVar RCV001991248, ESP rs146175810, REVEL 0.10, MetaLR 0.15, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- N120D (p.Asn120Asp), ExAC rs759887683, TOPMed rs759887683, gnomAD rs759887683, REVEL 0.16, MetaLR 0.34
- N120S (p.Asn120Ser), rs201385983, ClinGen CA1751219, ClinVar RCV002003996, 1000Genomes rs201385983, REVEL 0.09, MetaLR 0.15, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- S121C (p.Ser121Cys), rs1558735534, ClinGen CA347576774, ClinVar RCV000699185, Ensembl rs1558735534, AlphaMissense 0.87, MetaLR 0.40, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- S121T (p.Ser121Thr), cosmic curated COSV52159
- I122L (p.Ile122Leu), ESP rs199855213, ExAC rs199855213, TOPMed rs199855213, gnomAD rs199855213, REVEL 0.04, MetaLR 0.09
- I122S (p.Ile122Ser), ExAC rs760876561, TOPMed rs760876561, gnomAD rs760876561, REVEL 0.05, MetaLR 0.07
- I122V (p.Ile122Val), ESP rs199855213, ExAC rs199855213, TOPMed rs199855213, gnomAD rs199855213, REVEL 0.05, MetaLR 0.07
- M123L (p.Met123Leu), Ensembl rs1673226100, REVEL 0.07, MetaLR 0.04
- Y124F (p.Tyr124Phe), rs1221153844, ClinGen CA347576754, ClinVar RCV001867367, gnomAD rs1221153844, REVEL 0.10, MetaLR 0.29, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Y124N (p.Tyr124Asn), rs904075671, ClinGen CA51407909, ClinVar RCV001366317, TOPMed rs904075671, REVEL 0.20, MetaLR 0.39, Uncertain significance, Susceptibility to respiratory infections associated with CD8alpha chain mutation
Public CD8A analysis runs
- CD8A analysis run — CD8A (563 variants) — completed 2026-08-22