HLA-C (P10321) variants and mutations
HLA-C (also known as P10321) is a human protein-coding gene encoding a HLA class I histocompatibility antigen, C alpha chain protein. It presents intracellular peptides to cytotoxic T cells and is also a major ligand for inhibitory and activating killer-cell immunoglobulin-like receptors on natural-killer cells. Allelic variation influences antiviral immunity, reproductive immunology, autoimmune risk, and outcomes of hematopoietic transplantation. This analysis covers 1,161 HLA-C variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes COVID-19, psoriasis, and diffuse large B-cell lymphoma. Example HLA-C variants include R2L, R2P, and R2Q.
Variant analysis overview
- Gene: HLA-C
- Protein: P10321
- UniProt accession: P10321
- Organism: Homo sapiens
- Variants analyzed: 1161
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,061 unspecified-consequence records; 5 stop lost; 3 splice-region variants; 71 missense variants; 2 stop-gained variants; 14 synonymous variants; 5 frameshift variants
- Prediction scores: 1,116 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: COVID-19, psoriasis, diffuse large B-cell lymphoma, neoplasm, cancer, infection, colorectal carcinoma, toxic epidermal necrolysis, glioblastoma, Schwartz-Jampel syndrome, chronic obstructive pulmonary disease, endometriosis.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 5 binding sites; 3 post-translational modification sites.
- Structural context: 225 variants have structural context.
- PTM context: 17 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-C variants
Examples include R2L, R2P, R2Q, R2W, V3I, M4I, M4K, M4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- R2L (p.Arg2Leu), 1000Genomes rs772484756, ExAC rs772484756, gnomAD rs772484756, REVEL 0.02, CADD 9.58
- R2P (p.Arg2Pro), cosmic curated COSV99058, 1000Genomes rs772484756, ExAC rs772484756, gnomAD rs772484756, REVEL 0.08, CADD 10.80
- R2Q (p.Arg2Gln), 1000Genomes rs772484756, ExAC rs772484756, gnomAD rs772484756, REVEL 0.03, CADD 11.40
- R2W (p.Arg2Trp), NCI-TCGA TCGA novel, Ensembl rs2113916885, REVEL 0.12, CADD 12.10, Variant assessed as somatic; moderate impact.
- V3I (p.Val3Ile), 1000Genomes rs2113916858, REVEL 0.12, CADD 7.39
- M4I (p.Met4Ile), cosmic curated COSV66118, Ensembl rs1761433363, REVEL 0.16, CADD 17.00
- M4K (p.Met4Lys), ExAC rs199783871, gnomAD rs199783871, REVEL 0.17, CADD 9.21
- M4T (p.Met4Thr), ExAC rs199783871, gnomAD rs199783871, REVEL 0.23, CADD 1.69
- M4V (p.Met4Val), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10088, REVEL 0.17, CADD 3.87, Variant assessed as somatic; moderate impact.
- A5V (p.Ala5Val), cosmic curated COSV10971, ExAC rs754478879, REVEL 0.22, CADD 17.80
- P6A (p.Pro6Ala), NCI-TCGA TCGA novel, REVEL 0.12, CADD 18.90, Variant assessed as somatic; moderate impact.
- P6L (p.Pro6Leu), cosmic curated COSV10593, gnomAD rs891772751, REVEL 0.13, CADD 22.50
- R7* (p.Arg7Ter), gnomAD rs878995294, CADD 35.00
- R7G (p.Arg7Gly), gnomAD rs878995294, REVEL 0.16, CADD 18.80
- R7Q (p.Arg7Gln), rs41548123, cosmic curated COSV66110, UniProt VAR 082408, 1000Genomes rs41548123, REVEL 0.13, CADD 15.60, Benign, in allele C*17:01
- A8D (p.Ala8Asp), ExAC rs755610458, TOPMed rs755610458, gnomAD rs755610458, REVEL 0.18, CADD 19.70
- A8P (p.Ala8Pro), 1000Genomes rs2308525, ESP rs2308525, ExAC rs2308525, gnomAD rs2308525, REVEL 0.21, CADD 14.20
- A8S (p.Ala8Ser), 1000Genomes rs2308525, ESP rs2308525, ExAC rs2308525, gnomAD rs2308525, REVEL 0.16, CADD 6.62
- A8T (p.Ala8Thr), rs2308525, cosmic curated COSV66117, UniProt VAR 082409, 1000Genomes rs2308525, REVEL 0.28, CADD 1.67, Benign, in allele C*01:02, allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:0
- A8V (p.Ala8Val), ExAC rs755610458, TOPMed rs755610458, gnomAD rs755610458, REVEL 0.14, CADD 19.70
- L9F (p.Leu9Phe), ExAC rs751484302, gnomAD rs751484302, REVEL 0.07, CADD 20.80
- L9P (p.Leu9Pro), Ensembl rs1761430961, REVEL 0.17, CADD 24.00
- L9R (p.Leu9Arg), NCI-TCGA TCGA novel, REVEL 0.18, CADD 23.50, Variant assessed as somatic; moderate impact.
- L9V (p.Leu9Val), ExAC rs751484302, gnomAD rs751484302, REVEL 0.12, CADD 19.80
- L10I (p.Leu10Ile), rs2308527, cosmic curated COSV66117, UniProt VAR 082410, 1000Genomes rs2308527, REVEL 0.11, CADD 18.80, Benign, in allele C*01:02, allele C*03:02, allele C*03:04, allele C*04:01, allele C*05:0
- L10P (p.Leu10Pro), Ensembl rs41562218, REVEL 0.21, CADD 25.30
- L10V (p.Leu10Val), 1000Genomes rs2308527, ESP rs2308527, ExAC rs2308527, gnomAD rs2308527, REVEL 0.18, CADD 18.30
- L12R (p.Leu12Arg), Ensembl rs2113916648, REVEL 0.19, CADD 24.20
- S14* (p.Ser14Ter), ExAC rs766595242, gnomAD rs766595242, CADD 35.00
- S14L (p.Ser14Leu), ExAC rs766595242, gnomAD rs766595242, REVEL 0.10, CADD 20.00
- S14P (p.Ser14Pro), gnomAD rs1157292832, REVEL 0.17, CADD 20.10
- S14T (p.Ser14Thr), gnomAD rs1157292832, REVEL 0.12, CADD 17.40
- S14W (p.Ser14Trp), ExAC rs766595242, gnomAD rs766595242, REVEL 0.15, CADD 23.20
- G15* (p.Gly15Ter), gnomAD rs1201118574, CADD 35.00
- G15A (p.Gly15Ala), 1000Genomes rs773587386, ExAC rs773587386, gnomAD rs773587386, REVEL 0.15, CADD 5.98
- G16A (p.Gly16Ala), rs1050451, cosmic curated COSV66117, UniProt VAR 082411, 1000Genomes rs1050451, REVEL 0.27, CADD 7.06, Benign, in allele C*01:02, allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:0
- G16D (p.Gly16Asp), 1000Genomes rs1050451, ESP rs1050451, ExAC rs1050451, gnomAD rs1050451, REVEL 0.18, CADD 18.00
- G16S (p.Gly16Ser), gnomAD rs1206082893, REVEL 0.14, CADD 17.40
- G16V (p.Gly16Val), 1000Genomes rs1050451, ESP rs1050451, ExAC rs1050451, gnomAD rs1050451, REVEL 0.25, CADD 13.70
- L17P (p.Leu17Pro), ExAC rs774915913, gnomAD rs774915913, REVEL 0.14, CADD 24.00
- L17R (p.Leu17Arg), ExAC rs774915913, gnomAD rs774915913, REVEL 0.17, CADD 24.00
- L17V (p.Leu17Val), Ensembl rs1761427731, REVEL 0.14, CADD 23.00
- L19Q (p.Leu19Gln), Ensembl rs281860316, REVEL 0.13, CADD 22.80
- L19V (p.Leu19Val), Ensembl rs923042571, REVEL 0.14, CADD 18.60
- T20I (p.Thr20Ile), rs41549413, UniProt VAR 082412, 1000Genomes rs41549413, ESP rs41549413, REVEL 0.13, CADD 16.50, Benign, in allele C*17:01
- T20S (p.Thr20Ser), Ensembl rs2113916516, REVEL 0.13, CADD 21.00
- E21A (p.Glu21Ala), Ensembl rs1253884586, REVEL 0.13, CADD 20.40
- E21D (p.Glu21Asp), ExAC rs769594453, gnomAD rs769594453, REVEL 0.14, CADD 19.20
- E21Q (p.Glu21Gln), Ensembl rs1761426602, REVEL 0.20, CADD 1.00
- T22A (p.Thr22Ala), Ensembl rs1176545881, REVEL 0.18, CADD 23.40
- T22P (p.Thr22Pro), Ensembl rs1176545881, REVEL 0.14, CADD 24.00
- A24T (p.Ala24Thr), rs41553415, ClinGen CA3711038, ClinVar RCV003431741, 1000Genomes rs41553415, REVEL 0.12, CADD 23.30, Likely benign, not provided
- C25G (p.Cys25Gly), rs2074493, cosmic curated COSV10532, UniProt VAR 082413, 1000Genomes rs2074493, REVEL 0.34, CADD 8.53, Benign, in allele C*03:02, allele C*03:04, allele C*04:01 and allele C*17:01
- C25R (p.Cys25Arg), 1000Genomes rs2074493, ESP rs2074493, ExAC rs2074493, gnomAD rs2074493, REVEL 0.21, CADD 19.90, in allele C*03:02, allele C*03:04, allele C*04:01 and allele C*17:01
- C25S (p.Cys25Ser), gnomAD rs281860318, REVEL 0.25, CADD 23.50
- C25Y (p.Cys25Tyr), gnomAD rs281860318, REVEL 0.12, CADD 24.70
- S26A (p.Ser26Ala), Ensembl rs41546415, REVEL 0.17, CADD 23.00
- S26F (p.Ser26Phe), Ensembl rs281860319, REVEL 0.15, CADD 23.90
- S26P (p.Ser26Pro), Ensembl rs41546415, REVEL 0.16, CADD 22.60
- S26Y (p.Ser26Tyr), Ensembl rs281860319, REVEL 0.14, CADD 23.50
- H27L (p.His27Leu), Ensembl rs281860320, REVEL 0.17, CADD 25.20
- H27P (p.His27Pro), Ensembl rs281860320, REVEL 0.19, CADD 25.70
- H27Q (p.His27Gln), ExAC rs41543915, gnomAD rs41543915, REVEL 0.20, CADD 25.70
- H27R (p.His27Arg), Ensembl rs281860320, REVEL 0.18, CADD 24.50
- H27Y (p.His27Tyr), Ensembl rs79057049, REVEL 0.23, CADD 25.50
- S28C (p.Ser28Cys), ExAC rs11547360, gnomAD rs11547360, REVEL 0.16, CADD 24.10
- S28F (p.Ser28Phe), ExAC rs11547360, gnomAD rs11547360, REVEL 0.20, CADD 24.30
- S28Y (p.Ser28Tyr), ExAC rs11547360, gnomAD rs11547360, REVEL 0.18, CADD 24.10
- M29K (p.Met29Lys), 1000Genomes rs61759936, ExAC rs61759936, gnomAD rs61759936, REVEL 0.17, CADD 22.70
- M29L (p.Met29Leu), ExAC rs281860322, gnomAD rs281860322, REVEL 0.17, CADD 0.05
- M29R (p.Met29Arg), 1000Genomes rs61759936, ExAC rs61759936, gnomAD rs61759936, REVEL 0.16, CADD 22.90
- M29T (p.Met29Thr), 1000Genomes rs61759936, ExAC rs61759936, gnomAD rs61759936, REVEL 0.18, CADD 22.50
- M29V (p.Met29Val), ExAC rs281860322, gnomAD rs281860322, REVEL 0.16, CADD 2.36
- R30G (p.Arg30Gly), ExAC rs281860323, gnomAD rs281860323, REVEL 0.18, CADD 22.70
- R30K (p.Arg30Lys), rs1131151, cosmic curated COSV66111, UniProt VAR 082414, 1000Genomes rs1131151, REVEL 0.14, CADD 19.40, Benign, in allele C*01:02
- R30M (p.Arg30Met), 1000Genomes rs1131151, ExAC rs1131151, gnomAD rs1131151, REVEL 0.11, CADD 23.10
- R30S (p.Arg30Ser), ExAC rs41548017, gnomAD rs41548017, REVEL 0.16, CADD 13.80
- Y31C (p.Tyr31Cys), ExAC rs281860326, gnomAD rs281860326, REVEL 0.18, CADD 24.50
- Y31D (p.Tyr31Asp), ExAC rs281860324, gnomAD rs281860324, REVEL 0.23, CADD 25.20
- Y31F (p.Tyr31Phe), ExAC rs281860326, gnomAD rs281860326, REVEL 0.12, CADD 23.80
- Y31H (p.Tyr31His), rs281860324, ExAC rs281860324, gnomAD rs281860324, REVEL 0.13, CADD 25.10, Variant assessed as somatic; moderate impact.
- Y31N (p.Tyr31Asn), ExAC rs281860324, gnomAD rs281860324, REVEL 0.16, CADD 25.10
- Y31S (p.Tyr31Ser), ExAC rs281860326, gnomAD rs281860326, REVEL 0.18, CADD 24.30
- F32I (p.Phe32Ile), gnomAD rs281860328, REVEL 0.10, CADD 23.60
- F32L (p.Phe32Leu), Ensembl rs281860329, REVEL 0.12, CADD 22.70
- F32S (p.Phe32Ser), Ensembl rs1562029239, REVEL 0.12, CADD 23.90
- F32V (p.Phe32Val), gnomAD rs281860328, REVEL 0.12, CADD 23.90
- D33A (p.Asp33Ala), cosmic curated COSV66111, 1000Genomes rs1071650, ExAC rs1071650, gnomAD rs1071650, REVEL 0.22, CADD 2.08
- D33F (p.Asp33Phe), UniProt VAR 082415, Benign, in allele C*01:02
- D33H (p.Asp33His), 1000Genomes rs9264668, ESP rs9264668, ExAC rs9264668, gnomAD rs9264668, REVEL 0.24, CADD 0.00, Benign, in allele C*02:02, allele C*03:02, allele C*03:04, allele C*05:01, allele C*08:0
- D33N (p.Asp33Asn), 1000Genomes rs9264668, ESP rs9264668, ExAC rs9264668, gnomAD rs9264668, REVEL 0.15, CADD 0.00, Benign, in allele C*02:02, allele C*03:02, allele C*03:04, allele C*05:01, allele C*08:0
- D33S (p.Asp33Ser), UniProt VAR 082416, Benign, in allele C*04:01 and allele C*14:02
- D33V (p.Asp33Val), cosmic curated COSV66112, 1000Genomes rs1071650, ExAC rs1071650, gnomAD rs1071650, REVEL 0.22, CADD 6.99
- D33Y (p.Asp33Tyr), rs9264668, ClinGen CA3710972, cosmic curated COSV66119, ClinVar RCV001656222, REVEL 0.29, CADD 0.00, Benign, not provided
- T34A (p.Thr34Ala), gnomAD rs281860330, REVEL 0.14, CADD 22.60
- T34I (p.Thr34Ile), 1000Genomes rs281860331, REVEL 0.17, CADD 22.20
- T34N (p.Thr34Asn), 1000Genomes rs281860331, REVEL 0.11, CADD 21.60
- T34P (p.Thr34Pro), gnomAD rs281860330, REVEL 0.17, CADD 23.50
- T34S (p.Thr34Ser), gnomAD rs281860330, REVEL 0.14, CADD 22.40
- A35D (p.Ala35Asp), ExAC rs72558124, REVEL 0.23, CADD 22.20
- A35S (p.Ala35Ser), rs1050445, cosmic curated COSV66109, UniProt VAR 082418, 1000Genomes rs1050445, REVEL 0.19, CADD 2.86, Benign, in allele C*01:02, allele C*04:01 and allele C*14:02
- A35V (p.Ala35Val), ExAC rs72558124, REVEL 0.13, CADD 17.40
- V36E (p.Val36Glu), ExAC rs41557119, REVEL 0.21, CADD 23.80
- V36G (p.Val36Gly), ExAC rs41557119, REVEL 0.23, CADD 23.90
- V36L (p.Val36Leu), 1000Genomes rs2308538, ExAC rs2308538, gnomAD rs2308538, REVEL 0.15, CADD 23.50
- V36M (p.Val36Met), cosmic curated COSV66110, 1000Genomes rs2308538, ExAC rs2308538, gnomAD rs2308538, REVEL 0.15, CADD 22.40
- S37C (p.Ser37Cys), ExAC rs281860332, gnomAD rs281860332, REVEL 0.20, CADD 26.10
- S37Y (p.Ser37Tyr), ExAC rs281860332, gnomAD rs281860332, REVEL 0.19, CADD 25.80
- R38G (p.Arg38Gly), 1000Genomes rs41542423, ExAC rs41542423, TOPMed rs41542423, gnomAD rs41542423, REVEL 0.18, CADD 23.30
- R38L (p.Arg38Leu), ExAC rs72558134, gnomAD rs72558134, REVEL 0.16, CADD 23.00
- R38Q (p.Arg38Gln), ExAC rs72558134, gnomAD rs72558134, REVEL 0.20, CADD 22.80
- R38W (p.Arg38Trp), rs41542423, cosmic curated COSV66111, UniProt VAR 082419, 1000Genomes rs41542423, REVEL 0.19, CADD 24.10, Benign, in allele C*04:01
- P39H (p.Pro39His), ExAC rs281860335, gnomAD rs281860335, REVEL 0.13, CADD 26.10
- P39L (p.Pro39Leu), ExAC rs281860335, gnomAD rs281860335, REVEL 0.14, CADD 26.50
- P39R (p.Pro39Arg), ExAC rs281860335, gnomAD rs281860335
- P39T (p.Pro39Thr), ExAC rs41558512, REVEL 0.15, CADD 22.40
- G40A (p.Gly40Ala), ExAC rs751209811, REVEL 0.10, CADD 22.90
- G40C (p.Gly40Cys), 1000Genomes rs151341100, ESP rs151341100, ExAC rs151341100, gnomAD rs151341100, REVEL 0.13, CADD 25.10
- G40D (p.Gly40Asp), ExAC rs751209811, REVEL 0.10, CADD 23.90
- G40R (p.Gly40Arg), 1000Genomes rs151341100, ESP rs151341100, ExAC rs151341100, gnomAD rs151341100, REVEL 0.11, CADD 24.60
- G40S (p.Gly40Ser), rs151341100, UniProt VAR 082420, 1000Genomes rs151341100, ESP rs151341100, REVEL 0.11, CADD 22.80, Benign, in allele C*02:02
- G40V (p.Gly40Val), ExAC rs751209811, REVEL 0.10, CADD 24.20
- R41C (p.Arg41Cys), 1000Genomes rs41555420, ExAC rs41555420, gnomAD rs41555420, REVEL 0.10, CADD 27.00
- R41G (p.Arg41Gly), 1000Genomes rs41555420, ExAC rs41555420, gnomAD rs41555420, REVEL 0.10, CADD 24.00
- R41H (p.Arg41His), ExAC rs41560916, gnomAD rs41560916, REVEL 0.16, CADD 19.90
- R41L (p.Arg41Leu), cosmic curated COSV10532, ExAC rs41560916, gnomAD rs41560916, REVEL 0.18, CADD 16.30
- R41P (p.Arg41Pro), ExAC rs41560916, gnomAD rs41560916, REVEL 0.17, CADD 22.20
- R41S (p.Arg41Ser), cosmic curated COSV66110, 1000Genomes rs41555420, ExAC rs41555420, gnomAD rs41555420, REVEL 0.12, CADD 25.10
- G42* (p.Gly42Ter), cosmic curated COSV66115, ExAC rs281860338, CADD 40.00
- G42A (p.Gly42Ala), ExAC rs45574634, REVEL 0.10, CADD 19.30
- G42E (p.Gly42Glu), ExAC rs45574634, REVEL 0.14, CADD 19.60
- G42R (p.Gly42Arg), ExAC rs281860338, REVEL 0.14, CADD 23.10
- G42V (p.Gly42Val), ExAC rs45574634, REVEL 0.12, CADD 23.20
- E43* (p.Glu43Ter), ExAC rs1050438, CADD 35.00
- E43D (p.Glu43Asp), ExAC rs746351359, gnomAD rs746351359, REVEL 0.24, CADD 13.90
- E43G (p.Glu43Gly), Ensembl rs281860339, REVEL 0.14, CADD 21.00
- E43K (p.Glu43Lys), ExAC rs1050438, REVEL 0.20, CADD 20.60
- E43Q (p.Glu43Gln), ExAC rs1050438, REVEL 0.18, CADD 22.20
- E43V (p.Glu43Val), Ensembl rs281860339, REVEL 0.12, CADD 23.10
- P44H (p.Pro44His), Ensembl rs281860340, REVEL 0.13, CADD 23.30
- P44L (p.Pro44Leu), Ensembl rs281860340, REVEL 0.13, CADD 23.60
- P44R (p.Pro44Arg), Ensembl rs281860340, REVEL 0.14, CADD 23.20
- P44S (p.Pro44Ser), ExAC rs780748676, REVEL 0.07, CADD 20.80
- P44T (p.Pro44Thr), ExAC rs780748676, REVEL 0.11, CADD 22.70
- R45C (p.Arg45Cys), TOPMed rs72558135, REVEL 0.13, CADD 23.80
- R45H (p.Arg45His), rs1050437, cosmic curated COSV66110, UniProt VAR 082421, 1000Genomes rs1050437, REVEL 0.14, CADD 11.00, Benign, in allele C*02:02, allele C*03:02, allele C*03:04 and allele C*15:02
- R45S (p.Arg45Ser), cosmic curated COSV10469, TOPMed rs72558135, REVEL 0.14, CADD 20.50
- F46I (p.Phe46Ile), ExAC rs281860341, gnomAD rs281860341, REVEL 0.15, CADD 23.00
- F46L (p.Phe46Leu), ExAC rs281860341, gnomAD rs281860341, REVEL 0.18, CADD 23.30
- F46S (p.Phe46Ser), Ensembl rs2113915096, REVEL 0.26, CADD 16.50
- F46V (p.Phe46Val), ExAC rs281860341, gnomAD rs281860341, REVEL 0.17, CADD 23.00
- I47L (p.Ile47Leu), gnomAD rs1384097655, REVEL 0.12, CADD 6.01
- I47S (p.Ile47Ser), Ensembl rs1761398721, REVEL 0.13, CADD 23.30
- I47V (p.Ile47Val), gnomAD rs1384097655, REVEL 0.11, CADD 7.67
- S48* (p.Ser48Ter), Ensembl rs1761398169, CADD 31.00
- S48A (p.Ser48Ala), rs707911, cosmic curated COSV66110, UniProt VAR 082422, 1000Genomes rs707911, REVEL 0.24, CADD 0.00, Benign, in allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:01, allele C*05:0
- S48P (p.Ser48Pro), 1000Genomes rs707911, ExAC rs707911, gnomAD rs707911, REVEL 0.28, CADD 4.76
- S48T (p.Ser48Thr), 1000Genomes rs707911, ExAC rs707911, gnomAD rs707911, REVEL 0.24, CADD 0.05
- V49E (p.Val49Glu), Ensembl rs2113915019, REVEL 0.20, CADD 25.10
- V49G (p.Val49Gly), Ensembl rs2113915019, REVEL 0.18, CADD 25.10
- G50D (p.Gly50Asp), Ensembl rs281860344, REVEL 0.26, CADD 23.50
- G50S (p.Gly50Ser), Ensembl rs281860343, REVEL 0.16, CADD 23.70
- Y51* (p.Tyr51Ter), gnomAD rs281860347, CADD 36.00
- Y51D (p.Tyr51Asp), gnomAD rs281860346, REVEL 0.24, CADD 27.20
- Y51H (p.Tyr51His), rs281860346, gnomAD rs281860346, REVEL 0.20, CADD 26.90, Variant assessed as somatic; moderate impact.
- Y51N (p.Tyr51Asn), gnomAD rs281860346, REVEL 0.20, CADD 27.20
- Y51S (p.Tyr51Ser), Ensembl rs2113914967, REVEL 0.20, CADD 26.70
- V52E (p.Val52Glu), Ensembl rs2113914917, REVEL 0.28, CADD 29.70
- V52L (p.Val52Leu), gnomAD rs41561612, REVEL 0.17, CADD 24.50
- V52M (p.Val52Met), gnomAD rs41561612, REVEL 0.19, CADD 24.90
- D53E (p.Asp53Glu), Ensembl rs281860349, REVEL 0.23, CADD 24.20
- D53G (p.Asp53Gly), Ensembl rs281860348, REVEL 0.26, CADD 31.00
- D53N (p.Asp53Asn), rs75512631, Ensembl rs75512631, REVEL 0.25, CADD 29.00, Variant assessed as somatic; moderate impact.
- D53V (p.Asp53Val), Ensembl rs281860348, REVEL 0.35, CADD 29.60
- D54H (p.Asp54His), ExAC rs72558126, gnomAD rs72558126
- D54N (p.Asp54Asn), ExAC rs72558126, gnomAD rs72558126, REVEL 0.10, CADD 24.80
- D54Y (p.Asp54Tyr), ExAC rs72558126, gnomAD rs72558126, REVEL 0.23, CADD 24.70
- T55M (p.Thr55Met), Ensembl rs281860351, REVEL 0.13, CADD 24.30
- T55S (p.Thr55Ser), Ensembl rs2113914860, REVEL 0.18, CADD 24.20
- Q56* (p.Gln56Ter), Ensembl rs281860352, CADD 37.00
Public HLA-C analysis runs
- HLA-C analysis run — HLA-C (1,161 variants) — completed 2026-08-19