CEBPE (Q15744) variants and mutations
CEBPE (also known as Q15744) is a human protein-coding gene encoding a CCAAT/enhancer-binding protein epsilon protein. A DNA-binding transcription factor in the CCAAT/enhancer-binding protein family. It activates gene programs needed for the transition from promyelocytes to mature myeloid cells and supports normal granulocyte development. This analysis covers 737 CEBPE variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes Recurrent infection due to specific granule deficiency, specific granule deficiency, and Pelger-Huet-like anomaly and episodic fever with abdominal pain. Example CEBPE variants include H3P, H3Q, and G4E.
Variant analysis overview
- Gene: CEBPE
- Protein: Q15744
- UniProt accession: Q15744
- Organism: Homo sapiens
- Variants analyzed: 737
- Variant scope: all variants
- Completed: 2026-06-06
Variant and mutation evidence
- Variant composition: 398 unspecified-consequence records; 161 missense variants; 7 stop-gained variants; 141 synonymous variants; 22 frameshift variants; 6 in-frame deletions; 1 splice-region variants; 1 in-frame insertions
- Prediction scores: 735 variants have prediction scores (100% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Recurrent infection due to specific granule deficiency, specific granule deficiency, Pelger-Huet-like anomaly and episodic fever with abdominal pain, acute lymphoblastic leukemia, B-cell acute lymphoblastic leukemia, genetic disorder, liver disease, hepatocellular carcinoma, isolated agammaglobulinemia, combined immunodeficiency due to ZAP70 deficiency, Chronic mucocutaneous candidosis, acute myeloid leukemia.
Protein structure and variant hotspots
- Protein features: 1 domains; 1 post-translational modification sites.
- Structural context: 165 variants have structural context.
- PTM context: 1 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, ClinGen, PharmGKB, MaveDB, LitVar.
Notable CEBPE variants
Examples include H3P, H3Q, G4E, G4R, G4W, Y6D, Y7C, Y7H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- H3P (p.His3Pro), Ensembl rs2140292385, REVEL 0.17, ESM-1b 0.00
- H3Q (p.His3Gln), rs769903476, ClinGen CA388954381, ClinVar RCV003830268, ExAC rs769903476, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- G4E (p.Gly4Glu), NCI-TCGA Cosmic COSV9924, REVEL 0.10, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G4R (p.Gly4Arg), rs545367685, ClinGen CA7111322, NCI-TCGA Cosmic COSV5282, ClinVar RCV001364862, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- G4W (p.Gly4Trp), 1000Genomes rs545367685, ExAC rs545367685, TOPMed rs545367685, gnomAD rs545367685, REVEL 0.08, ESM-1b 0.04, Uncertain significance
- Y6D (p.Tyr6Asp), TOPMed rs2048525407, ESM-1b 0.00, AlphaMissense 0.77
- Y7C (p.Tyr7Cys), rs2501821392, ClinGen CA388954332, ClinVar RCV002611703, ESM-1b 0.00, AlphaMissense 0.48, Uncertain significance, Specific granule deficiency
- Y7H (p.Tyr7His), ExAC rs768805943, gnomAD rs768805943, REVEL 0.08, ESM-1b 0.00
- E8A (p.Glu8Ala), TOPMed rs2048525336, ESM-1b 0.00, AlphaMissense 0.48
- E8K (p.Glu8Lys), rs780505713, ClinGen CA7111318, ClinVar RCV001316978, ExAC rs780505713, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- E8Q (p.Glu8Gln), NCI-TCGA TCGA novel, REVEL 0.13, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- C9G (p.Cys9Gly), rs942911403, ClinGen CA257745614, ClinVar RCV001237352, gnomAD rs942911403, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- C9R (p.Cys9Arg), gnomAD rs942911403, REVEL 0.06, ESM-1b 0.00, Uncertain significance
- C9Y (p.Cys9Tyr), gnomAD rs2048525298, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- P11S (p.Pro11Ser), Ensembl rs1200146570, REVEL 0.07, ESM-1b 0.00
- R12P (p.Arg12Pro), 1000Genomes rs201106129, ESP rs201106129, ExAC rs201106129, TOPMed rs201106129, REVEL 0.14, ESM-1b 0.00, Likely benign
- R12Q (p.Arg12Gln), rs201106129, ClinGen CA7111316, ClinVar RCV001476858, ClinVar RCV004749700, REVEL 0.07, ESM-1b 0.00, Likely benign, Specific granule deficiency; not provided
- R12W (p.Arg12Trp), 1000Genomes rs200723095, ExAC rs200723095, TOPMed rs200723095, gnomAD rs200723095, REVEL 0.15, ESM-1b 0.00, Benign, Specific granule deficiency
- G13V (p.Gly13Val), rs779313226, ClinGen CA7111315, ClinVar RCV002301152, ExAC rs779313226, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- Q15R (p.Gln15Arg), ExAC rs753538611, TOPMed rs753538611, gnomAD rs753538611, REVEL 0.05, ESM-1b 0.00
- Q16* (p.Gln16Ter), TOPMed rs2048525153
- P17S (p.Pro17Ser), ExAC rs755622138, gnomAD rs755622138, REVEL 0.05, ESM-1b 0.00
- E19D (p.Glu19Asp), TOPMed rs2048525027, gnomAD rs2048525027, REVEL 0.04, ESM-1b 0.00
- E19K (p.Glu19Lys), ESP rs200738630, ExAC rs200738630, TOPMed rs200738630, gnomAD rs200738630, REVEL 0.06, ESM-1b 0.00, Uncertain significance
- E19Q (p.Glu19Gln), rs200738630, ClinGen CA7111308, ClinVar RCV001326433, ESP rs200738630, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Specific granule deficiency; not provided
- F20I (p.Phe20Ile), NCI-TCGA Cosmic COSV5283, ESM-1b 0.00, AlphaMissense 0.18, Variant assessed as somatic; moderate impact.
- F20L (p.Phe20Leu), TOPMed rs2048525008, NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.69, Variant assessed as somatic; moderate impact.
- S21* (p.Ser21Ter), ExAC rs774222760, TOPMed rs774222760, gnomAD rs774222760, CADD 37.00
- G22R (p.Gly22Arg), rs766209986, ClinGen CA7111306, ClinVar RCV002234212, ExAC rs766209986, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- G22V (p.Gly22Val), NCI-TCGA TCGA novel, REVEL 0.14, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G23D (p.Gly23Asp), TOPMed rs1018705316, REVEL 0.04, ESM-1b 0.00
- R24* (p.Arg24Ter), rs1396196056, ClinGen CA388954104, ClinVar RCV002541178, ClinVar RCV003147669, CADD 36.00, Pathogenic
- R24L (p.Arg24Leu), ExAC rs747068325, TOPMed rs747068325, gnomAD rs747068325, REVEL 0.06, ESM-1b 0.00, Uncertain significance
- R24P (p.Arg24Pro), ExAC rs747068325, TOPMed rs747068325, gnomAD rs747068325, REVEL 0.03, ESM-1b 0.00, Uncertain significance
- R24Q (p.Arg24Gln), rs747068325, ClinGen CA257745575, ClinVar RCV001296923, ExAC rs747068325, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- A25G (p.Ala25Gly), ExAC rs775604569, TOPMed rs775604569, REVEL 0.09, ESM-1b 0.00
- A25S (p.Ala25Ser), TOPMed rs1247133860, gnomAD rs1247133860, REVEL 0.06, ESM-1b 0.00
- A25T (p.Ala25Thr), TOPMed rs1247133860, gnomAD rs1247133860, REVEL 0.09, ESM-1b 0.00
- A25V (p.Ala25Val), ExAC rs775604569, TOPMed rs775604569, REVEL 0.09, ESM-1b 0.00
- G26R (p.Gly26Arg), TOPMed rs2048524773, REVEL 0.09, ESM-1b 0.00
- G28R (p.Gly28Arg), rs771346092, ClinGen CA7111297, ClinVar RCV001897573, ClinVar RCV004611946, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Specific granule deficiency
- E29* (p.Glu29Ter), ExAC rs749657919, TOPMed rs749657919, gnomAD rs749657919
- D32A (p.Asp32Ala), Ensembl rs1264840671, REVEL 0.11, ESM-1b 0.00
- D32N (p.Asp32Asn), NCI-TCGA Cosmic COSV5282, REVEL 0.07, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- M33I (p.Met33Ile), TOPMed rs1484366171, ESM-1b 0.00, AlphaMissense 0.30
- M33T (p.Met33Thr), Ensembl rs923986501, ESM-1b 0.00, AlphaMissense 0.57
- C34S (p.Cys34Ser), rs376629444, ClinGen CA7111294, ClinVar RCV001051607, ESP rs376629444, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- E35D (p.Glu35Asp), rs2140292273, ClinGen CA388953952, ClinVar RCV001951725, Ensembl rs2140292273, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Specific granule deficiency
- E35K (p.Glu35Lys), ExAC rs752255768, gnomAD rs752255768, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- H36N (p.His36Asn), ExAC rs780853765, TOPMed rs780853765, gnomAD rs780853765, REVEL 0.08, ESM-1b 0.00
- H36R (p.His36Arg), ExAC rs539403943, gnomAD rs539403943, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- H36Y (p.His36Tyr), ExAC rs780853765, TOPMed rs780853765, gnomAD rs780853765, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E37D (p.Glu37Asp), NCI-TCGA Cosmic COSV9924, REVEL 0.31, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A38T (p.Ala38Thr), NCI-TCGA Cosmic COSV5282, ESM-1b 0.00, AlphaMissense 0.12, Variant assessed as somatic; moderate impact.
- S39F (p.Ser39Phe), rs751571581, ExAC rs751571581, gnomAD rs751571581, REVEL 0.43, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- I40T (p.Ile40Thr), rs766049556, ClinGen CA7111289, ClinVar RCV001363488, ClinVar RCV004036885, REVEL 0.37, ESM-1b 1.00, Uncertain significance, Specific granule deficiency; Inborn genetic diseases
- D41G (p.Asp41Gly), rs2140292255, ClinGen CA388953877, ClinVar RCV002044138, Ensembl rs2140292255, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Specific granule deficiency
- D41N (p.Asp41Asn), TOPMed rs1420124350, gnomAD rs1420124350, REVEL 0.38, ESM-1b 1.00, Uncertain significance, Specific granule deficiency
- D41H (p.Asp41His), gnomAD 14-23118971-C-G, REVEL 0.70, ESM-1b 1.00
- L42I (p.Leu42Ile), rs762775546, ClinGen CA7111288, ClinVar RCV002034049, ExAC rs762775546, REVEL 0.12, ESM-1b 0.27, Uncertain significance, Specific granule deficiency
- L42F (p.Leu42Phe), gnomAD 14-23118968-G-A, REVEL 0.18, ESM-1b 0.00
- S43F (p.Ser43Phe), TOPMed rs2048524440, ESM-1b 1.00, AlphaMissense 0.99
- S43H (p.Ser43His), rs1311095579, gnomAD 14-23118958-TAGGC, CADD 32.00
- S43S (p.Ser43Ser), rs750232833, gnomAD 14-23118963-G-T, CADD 0.77
- A44S (p.Ala44Ser), ESP rs200138272, ExAC rs200138272, TOPMed rs200138272, gnomAD rs200138272, REVEL 0.05, ESM-1b 0.00, Uncertain significance
- A44T (p.Ala44Thr), rs200138272, ClinGen CA7111286, ClinVar RCV001204452, ESP rs200138272, REVEL 0.11, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- A44V (p.Ala44Val), gnomAD rs1292024007, REVEL 0.14, ESM-1b 1.00
- A44A (p.Ala44Ala), rs1204032932, gnomAD 14-23118960-G-A, CADD 12.60
- A44P (p.Ala44Pro), gnomAD 14-23118962-C-G, REVEL 0.17, ESM-1b 0.16
- Y45C (p.Tyr45Cys), NCI-TCGA Cosmic COSV9924, REVEL 0.60, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- Y45F (p.Tyr45Phe), gnomAD 14-23118958-T-A, REVEL 0.29, ESM-1b 0.00
- I46N (p.Ile46Asn), ExAC rs760954076, TOPMed rs760954076, gnomAD rs760954076, REVEL 0.49, ESM-1b 1.00
- I46I (p.Ile46Ile), rs201515929, gnomAD 14-23118954-G-A, CADD 9.39
- I46M (p.Ile46Met), gnomAD 14-23118954-G-C, REVEL 0.35, ESM-1b 0.00
- E47A (p.Glu47Ala), rs2048524240, ClinGen CA388953803, ClinVar RCV001219493, Ensembl rs2048524240, ESM-1b 0.00, AlphaMissense 0.62, Uncertain significance, Specific granule deficiency
- E47K (p.Glu47Lys), ExAC rs772148374, gnomAD rs772148374, REVEL 0.19, ESM-1b 0.00
- S48C (p.Ser48Cys), ESP rs369075679, ExAC rs369075679, gnomAD rs369075679, REVEL 0.15, ESM-1b 0.00
- S48F (p.Ser48Phe), ESP rs369075679, ExAC rs369075679, gnomAD rs369075679, REVEL 0.15, ESM-1b 0.56
- S48S (p.Ser48Ser), gnomAD 14-23118948-A-G, CADD 9.68
- G49R (p.Gly49Arg), rs1301261529, ClinGen CA388953786, ClinVar RCV002013655, ClinVar RCV003402051, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; CEBPE-related disorder; Specific granule deficiency
- G49V (p.Gly49Val), NCI-TCGA Cosmic COSV5282, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E50K (p.Glu50Lys), TOPMed rs993358781, gnomAD rs993358781, ESM-1b 0.00, AlphaMissense 0.75, Uncertain significance
- E50Q (p.Glu50Gln), rs993358781, ClinGen CA257745422, ClinVar RCV001884764, ClinVar RCV002555223, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Specific granule deficiency; Inborn genetic diseases
- E51D (p.Glu51Asp), ExAC rs746377593, TOPMed rs746377593, gnomAD rs746377593, REVEL 0.13, ESM-1b 0.00
- E51E (p.Glu51Glu), rs746377593, gnomAD 14-23118939-C-T, CADD 0.98
- Q52H (p.Gln52His), TOPMed rs1347517629, gnomAD rs1347517629, ESM-1b 0.00, AlphaMissense 0.32, Likely benign
- Q52K (p.Gln52Lys), TOPMed rs1023588118, gnomAD rs1023588118, REVEL 0.03, ESM-1b 0.00
- Q52Q (p.Gln52Gln), rs1347517629, gnomAD 14-23118936-C-T, CADD 8.50
- L53F (p.Leu53Phe), rs1303931802, ClinGen CA388953727, ClinVar RCV003041807, TOPMed rs1303931802, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- L53L (p.Leu53Leu), gnomAD 14-23118933-A-G, CADD 6.59
- L54F (p.Leu54Phe), gnomAD 14-23118932-G-A, REVEL 0.08, ESM-1b 0.00
- S55S (p.Ser55Ser), rs374697077, gnomAD 14-23118927-G-T, CADD 0.54
- D56H (p.Asp56His), ESP rs371734898, ExAC rs371734898, TOPMed rs371734898, gnomAD rs371734898, ESM-1b 1.00, AlphaMissense 0.89, Uncertain significance
- D56N (p.Asp56Asn), rs371734898, ClinGen CA7111278, ClinVar RCV001236343, ESP rs371734898, REVEL 0.30, ESM-1b 0.96, Uncertain significance, Specific granule deficiency
- L57P (p.Leu57Pro), ESP rs367924607, ExAC rs367924607, TOPMed rs367924607, gnomAD rs367924607, ESM-1b 1.00, AlphaMissense 0.95
- L57I (p.Leu57Ile), gnomAD 14-23118923-G-T, REVEL 0.13, ESM-1b 0.00
- F58C (p.Phe58Cys), gnomAD 14-23118917-CAA-C, CADD 28.60
- F58L (p.Phe58Leu), gnomAD 14-23118920-A-G, REVEL 0.22, ESM-1b 0.00
- A59A (p.Ala59Ala), rs141320203, gnomAD 14-23118915-G-A, CADD 2.86
- A59C (p.Ala59Cys), gnomAD 14-23118917-C-CA, CADD 25.70
- A59S (p.Ala59Ser), gnomAD 14-23118917-C-A, REVEL 0.02, ESM-1b 0.00
- V60L (p.Val60Leu), rs1376968968, NCI-TCGA Cosmic COSV5282, TOPMed rs1376968968, gnomAD rs1376968968, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance
- V60M (p.Val60Met), rs1376968968, ClinGen CA388953636, ClinVar RCV002639545, TOPMed rs1376968968, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- p.Pro62 Ala63insArg, gnomAD 14-23118905-C-CTC, CADD 8.57
- P62Q (p.Pro62Gln), gnomAD 14-23118907-G-T, REVEL 0.07, ESM-1b 0.00
- P62L (p.Pro62Leu), gnomAD 14-23118907-G-A, REVEL 0.07, ESM-1b 0.05
- P62T (p.Pro62Thr), gnomAD 14-23118908-G-T, REVEL 0.07, ESM-1b 0.00
- A63V (p.Ala63Val), rs561833547, ClinGen CA7111274, ClinVar RCV003086778, ExAC rs561833547, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- A63A (p.Ala63Ala), rs199734343, gnomAD 14-23118903-C-T, CADD 0.72
- A63G (p.Ala63Gly), gnomAD 14-23118903-CG-C, CADD 24.30
- A63E (p.Ala63Glu), gnomAD 14-23118904-G-T, REVEL 0.06, ESM-1b 0.00
- P64S (p.Pro64Ser), ESP rs375615547, ExAC rs375615547, gnomAD rs375615547, REVEL 0.04, ESM-1b 0.00
- P64P (p.Pro64Pro), gnomAD 14-23118900-A-G, CADD 3.88
- E65E (p.Glu65Glu), rs758325030, gnomAD 14-23118897-C-T, CADD 8.94
- E65K (p.Glu65Lys), gnomAD 14-23118899-C-T, REVEL 0.09, ESM-1b 0.00
- A66T (p.Ala66Thr), TOPMed rs2048523867, ESM-1b 0.00, AlphaMissense 0.07
- A66G (p.Ala66Gly), gnomAD 14-23118895-G-C, REVEL 0.03, ESM-1b 0.00
- R67G (p.Arg67Gly), rs750228203, ClinGen CA7111270, ClinVar RCV001364107, ExAC rs750228203, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- R67K (p.Arg67Lys), gnomAD rs1382709847, REVEL 0.10, ESM-1b 0.00
- R67R (p.Arg67Arg), gnomAD 14-23118891-T-C, CADD 8.14
- G68D (p.Gly68Asp), 1000Genomes rs201670447, ExAC rs201670447, gnomAD rs201670447, REVEL 0.04, ESM-1b 0.00
- G68S (p.Gly68Ser), Ensembl rs1566773662, ESM-1b 0.00, AlphaMissense 0.08
- G68G (p.Gly68Gly), gnomAD 14-23118888-G-T, CADD 7.35
- G68C (p.Gly68Cys), gnomAD 14-23118890-C-A, REVEL 0.05, ESM-1b 0.00
- L69F (p.Leu69Phe), rs146580935, ClinGen CA7111267, ClinVar RCV000636642, ClinVar RCV003144408, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Specific granule deficiency; not provided; Specific granule deficiency 1
- L69P (p.Leu69Pro), Ensembl rs2140292173, ESM-1b 0.00, AlphaMissense 0.10
- L69L (p.Leu69Leu), rs1255895675, gnomAD 14-23118885-G-A, CADD 1.17
- K70R (p.Lys70Arg), Ensembl rs2140292167, ESM-1b 0.00, AlphaMissense 0.08
- G71G (p.Gly71Gly), rs759592746, gnomAD 14-23118879-G-T, CADD 5.03
- G71A (p.Gly71Ala), gnomAD 14-23118879-GC-G, CADD 25.40
- G71R (p.Gly71Arg), gnomAD 14-23118881-C-G, REVEL 0.10, ESM-1b 0.00
- G71S (p.Gly71Ser), gnomAD 14-23118881-C-T, REVEL 0.06, ESM-1b 0.00
- P72P (p.Pro72Pro), rs200808733, gnomAD 14-23118876-G-C, CADD 0.41
- P72S (p.Pro72Ser), gnomAD 14-23118878-G-A, REVEL 0.05, ESM-1b 0.00
- P72A (p.Pro72Ala), gnomAD 14-23118878-G-C, REVEL 0.03, ESM-1b 0.00
- G73E (p.Gly73Glu), NCI-TCGA Cosmic COSV9924, ESM-1b 0.00, AlphaMissense 0.24, Variant assessed as somatic; high impact.
- G73R (p.Gly73Arg), rs556715943, ClinGen CA7111263, ClinVar RCV001037689, 1000Genomes rs556715943, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- G73V (p.Gly73Val), rs2501820761, ClinGen CA388953498, ClinVar RCV003899351, REVEL 0.13, ESM-1b 0.00, Uncertain significance, CEBPE-related disorder
- T74I (p.Thr74Ile), ExAC rs763378339, gnomAD rs763378339, REVEL 0.02, ESM-1b 0.00
- T74S (p.Thr74Ser), ExAC rs763378339, gnomAD rs763378339, REVEL 0.04, ESM-1b 0.00
- T74T (p.Thr74Thr), rs142854852, gnomAD 14-23118870-G-A, CADD 3.56
- P75S (p.Pro75Ser), NCI-TCGA Cosmic COSV5282, REVEL 0.06, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P75T (p.Pro75Thr), rs148458866, ClinGen CA7111260, ClinVar RCV002235407, ESP rs148458866, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- P75P (p.Pro75Pro), rs573591210, gnomAD 14-23118867-A-G, CADD 8.11
- P75L (p.Pro75Leu), gnomAD 14-23118868-G-A, REVEL 0.04, ESM-1b 0.00
- A76T (p.Ala76Thr), ExAC rs768470486, TOPMed rs768470486, gnomAD rs768470486, REVEL 0.04, ESM-1b 0.00
- A76V (p.Ala76Val), rs1370239075, ClinGen CA388953482, ClinVar RCV002851187, TOPMed rs1370239075, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Specific granule deficiency
- A76A (p.Ala76Ala), rs1308888249, gnomAD 14-23118864-G-A, CADD 10.20
- F77S (p.Phe77Ser), gnomAD 14-23118861-GA-G, CADD 28.70
- F77F (p.Phe77Phe), gnomAD 14-23118861-G-A, CADD 8.46
- P78L (p.Pro78Leu), TOPMed rs886224384, gnomAD rs886224384, REVEL 0.02, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P78S (p.Pro78Ser), NCI-TCGA Cosmic COSV9924, REVEL 0.10, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P78P (p.Pro78Pro), rs114913626, gnomAD 14-23118858-G-A, CADD 10.60
- H79D (p.His79Asp), ExAC rs758288868, TOPMed rs758288868, gnomAD rs758288868, REVEL 0.05, ESM-1b 0.00
- H79N (p.His79Asn), ExAC rs758288868, TOPMed rs758288868, gnomAD rs758288868, REVEL 0.03, ESM-1b 0.00
- H79Y (p.His79Tyr), ExAC rs758288868, TOPMed rs758288868, gnomAD rs758288868, REVEL 0.07, ESM-1b 0.00
- H79R (p.His79Arg), gnomAD 14-23118856-T-C, REVEL 0.06, ESM-1b 0.00
- H79T (p.His79Thr), gnomAD 14-23118856-TG-T, CADD 30.00
- H79P (p.His79Pro), gnomAD 14-23118856-T-TG, CADD 31.00
- Y80Y (p.Tyr80Tyr), rs2140292130, gnomAD 14-23118852-G-A, CADD 5.57
- P82L (p.Pro82Leu), rs372292172, ClinGen CA7111252, ClinVar RCV001918903, ClinVar RCV004611986, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Specific granule deficiency; Inborn genetic diseases
- P82S (p.Pro82Ser), rs745802559, ClinGen CA7111253, ClinVar RCV002640898, ExAC rs745802559, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P82T (p.Pro82Thr), ExAC rs745802559, TOPMed rs745802559, gnomAD rs745802559, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance
- P82P (p.Pro82Pro), rs757072889, gnomAD 14-23118846-C-A, CADD 1.06
- P83S (p.Pro83Ser), Ensembl rs994485966, REVEL 0.02, ESM-1b 0.00
- P83P (p.Pro83Pro), rs2140292119, gnomAD 14-23118843-A-G, CADD 5.97
- D84N (p.Asp84Asn), TOPMed rs2048523359, ESM-1b 0.00, AlphaMissense 0.23
- D84E (p.Asp84Glu), gnomAD 14-23118840-G-T, REVEL 0.02, ESM-1b 0.00
- D84V (p.Asp84Val), gnomAD 14-23118841-T-A, REVEL 0.13, ESM-1b 0.00
- P85R (p.Pro85Arg), gnomAD rs1234222212, REVEL 0.13, ESM-1b 0.00
- P85S (p.Pro85Ser), ExAC rs753671661, gnomAD rs753671661, REVEL 0.09, ESM-1b 0.00
- P85P (p.Pro85Pro), gnomAD 14-23118837-A-G, CADD 0.69
- P85L (p.Pro85Leu), gnomAD 14-23118838-G-A, REVEL 0.03, ESM-1b 0.00
- P85A (p.Pro85Ala), gnomAD 14-23118839-G-C, REVEL 0.08, ESM-1b 0.00
- R86Q (p.Arg86Gln), ExAC rs767715396, TOPMed rs767715396, gnomAD rs767715396, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- R86W (p.Arg86Trp), rs773876082, ClinGen CA257745193, ClinVar RCV002021562, TOPMed rs773876082, REVEL 0.13, ESM-1b 0.12, Uncertain significance, Specific granule deficiency
- R86R (p.Arg86Arg), rs2048523278, gnomAD 14-23118834-C-T, CADD 8.78
- R86P (p.Arg86Pro), gnomAD 14-23118835-C-G, REVEL 0.14, ESM-1b 0.00
- P87P (p.Pro87Pro), rs1648038715, gnomAD 14-23118831-G-A, CADD 8.22
- P87L (p.Pro87Leu), gnomAD 14-23118832-G-A, REVEL 0.02, ESM-1b 0.00
Public CEBPE analysis runs
- CEBPE analysis run — CEBPE (737 variants) — completed 2026-06-06