CEBPA (P49715) variants and mutations
CEBPA (also known as P49715) is a human protein-coding gene encoding a CCAAT/enhancer-binding protein alpha protein. It drives granulocytic differentiation and helps maintain normal myeloid maturation. Acquired pathogenic variants define important subsets of acute myeloid leukemia, while germline variants can confer familial AML predisposition. This analysis covers 1,467 CEBPA variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes acute myeloid leukemia, hereditary neoplastic syndrome, and Inherited cancer-predisposing syndrome. Example CEBPA variants include E2D, E2G, and E2K.
Variant analysis overview
- Gene: CEBPA
- Protein: P49715
- UniProt accession: P49715
- Organism: Homo sapiens
- Variants analyzed: 1467
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,031 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 138 synonymous variants; 218 missense variants; 11 in-frame insertions; 7 stop-gained variants; 28 frameshift variants; 26 in-frame deletions; 6 substitution
- Prediction scores: 1,322 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: acute myeloid leukemia, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, inherited acute myeloid leukemia, neurodegenerative disease, acute myeloid leukemia, t(3;5)(q25;q34), acute myeloid leukemia with mutated NPM1, hepatocellular carcinoma, chronic myelogenous leukemia, BCR-ABL1 positive, myelodysplastic syndrome, non-small cell lung carcinoma, breast carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 5 post-translational modification sites.
- Structural context: 262 variants have structural context.
- PTM context: 26 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, ClinGen, MaveDB, LitVar.
Notable CEBPA variants
Examples include E2D, E2G, E2K, S3L, A4D, A4G, A4S, A4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2D (p.Glu2Asp), rs2145265146, ClinGen CA405275882, ClinVar RCV001369493, Ensembl rs2145265146, AlphaMissense 0.38, MetaLR 0.08, Uncertain significance, Acute myeloid leukemia
- E2G (p.Glu2Gly), Ensembl rs2145265151, MetaLR 0.14, MetaSVM -0.87
- E2K (p.Glu2Lys), TOPMed rs1967205529, REVEL 0.17, MetaLR 0.10
- S3L (p.Ser3Leu), rs2145265139, ClinGen CA405275875, ClinVar RCV003860012, 1000Genomes rs2145265139, REVEL 0.07, MetaLR 0.03, Uncertain significance, Acute myeloid leukemia
- A4D (p.Ala4Asp), Ensembl rs867268085, REVEL 0.26, MetaLR 0.06
- A4G (p.Ala4Gly), Ensembl rs867268085, MetaLR 0.05, MetaSVM -1.09
- A4S (p.Ala4Ser), rs1415169403, ClinGen CA405275872, ClinVar RCV000686373, ClinVar RCV003151135, REVEL 0.05, MetaLR 0.04, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- A4T (p.Ala4Thr), TOPMed rs1415169403, gnomAD rs1415169403, REVEL 0.04, MetaLR 0.04, Uncertain significance
- A4V (p.Ala4Val), Ensembl rs867268085, REVEL 0.14, MetaLR 0.06, Likely benign, Inborn genetic diseases
- D5A (p.Asp5Ala), rs1555742334, ClinGen CA405275866, ClinVar RCV000547626, ClinVar RCV004975642, REVEL 0.09, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- D5G (p.Asp5Gly), Ensembl rs1555742334, Uncertain significance
- D5H (p.Asp5His), rs2145265106, ClinGen CA405275868, ClinVar RCV001969995, Ensembl rs2145265106, AlphaMissense 0.71, MetaLR 0.04, Uncertain significance, Acute myeloid leukemia
- F6I (p.Phe6Ile), rs1600024682, ClinGen CA405275861, ClinVar RCV000820468, Ensembl rs1600024682, AlphaMissense 0.45, MetaLR 0.07, Uncertain significance, Acute myeloid leukemia
- Y7* (p.Tyr7Ter), Ensembl rs2145265085, CADD 38.00
- Y7H (p.Tyr7His), rs2513333727, ClinGen CA405275853, ClinVar RCV002924461, REVEL 0.17, MetaLR 0.18, Uncertain significance, Inborn genetic diseases
- E8G (p.Glu8Gly), Ensembl rs2145265073, REVEL 0.19, MetaLR 0.13
- E8K (p.Glu8Lys), rs1600024672, ClinGen CA405275845, ClinVar RCV000802599, ClinVar RCV005306155, REVEL 0.14, MetaLR 0.15, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- E8Q (p.Glu8Gln), Ensembl rs1600024672, MetaLR 0.14, MetaSVM -0.94, Uncertain significance
- A9E (p.Ala9Glu), rs2145265055, ClinGen CA405275834, ClinVar RCV001937006, Ensembl rs2145265055, REVEL 0.12, MetaLR 0.03, Uncertain significance, Acute myeloid leukemia
- A9T (p.Ala9Thr), gnomAD rs1181498734, REVEL 0.11, MetaLR 0.04
- A9V (p.Ala9Val), rs2145265055, ClinGen CA405275832, ClinVar RCV002730593, REVEL 0.06, MetaLR 0.01, Uncertain significance, Acute myeloid leukemia
- E10D (p.Glu10Asp), Ensembl rs759902033
- E10G (p.Glu10Gly), Ensembl rs1967204473, MetaLR 0.08, MetaSVM -1.01
- E10K (p.Glu10Lys), rs1555742327, ClinGen CA405275831, ClinVar RCV000631427, ClinVar RCV005306097, REVEL 0.10, MetaLR 0.07, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P11L (p.Pro11Leu), rs1967204111, ClinGen CA405275819, ClinVar RCV001043498, ClinVar RCV003346272, REVEL 0.17, AlphaMissense 0.27, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P11Q (p.Pro11Gln), rs1967204111, ClinGen CA405275821, ClinVar RCV003072525, REVEL 0.11, AlphaMissense 0.27, Uncertain significance, Acute myeloid leukemia; Inborn genetic diseases
- P11R (p.Pro11Arg), rs1967204111, ClinGen CA405275820, ClinVar RCV001218363, Ensembl rs1967204111, AlphaMissense 0.27, MetaLR 0.07, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P11S (p.Pro11Ser), rs1555742325, ClinGen CA405275823, ClinVar RCV000631421, Ensembl rs1555742325, REVEL 0.05, MetaLR 0.04, Uncertain significance, Acute myeloid leukemia
- P11T (p.Pro11Thr), rs1555742325, ClinGen CA405275822, ClinVar RCV001208304, ClinVar RCV002249798, REVEL 0.05, MetaLR 0.06, Uncertain significance, not specified; Acute myeloid leukemia
- R12G (p.Arg12Gly), Ensembl rs2145264998
- R12P (p.Arg12Pro), Ensembl rs2145264988, MetaLR 0.26, MetaSVM -0.53
- R12W (p.Arg12Trp), Ensembl rs2145264998, REVEL 0.38, MetaLR 0.26
- P13A (p.Pro13Ala), rs961496947, ClinGen CA405275813, ClinVar RCV000631436, TOPMed rs961496947, REVEL 0.17, MetaLR 0.18, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P13R (p.Pro13Arg), rs2145264956, ClinGen CA405275810, ClinVar RCV001877724, Ensembl rs2145264956, AlphaMissense 0.56, MetaLR 0.10, Uncertain significance, Acute myeloid leukemia
- P13S (p.Pro13Ser), rs961496947, ClinGen CA405275812, ClinVar RCV001213738, ClinVar RCV006347522, REVEL 0.14, MetaLR 0.23, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P13T (p.Pro13Thr), rs961496947, ClinGen CA307844461, ClinVar RCV001919876, ClinVar RCV004774514, REVEL 0.23, MetaLR 0.23, Uncertain significance, not provided; Inborn genetic diseases; Acute myeloid leukemia
- P14A (p.Pro14Ala), rs1379627026, ClinGen CA405275807, ClinVar RCV000535994, ClinVar RCV002256342, REVEL 0.08, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; Hereditary cancer-predisposing syndrome; not provided
- P14L (p.Pro14Leu), rs1007915253, ClinGen CA405275804, ClinVar RCV003517771, ClinVar RCV005806798, REVEL 0.04, MetaLR 0.04, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- P14Q (p.Pro14Gln), rs1007915253, ClinGen CA307844456, ClinVar RCV000823058, ClinVar RCV002508269, REVEL 0.09, MetaLR 0.07, Conflicting interpretations, not provided; Acute myeloid leukemia; Inborn genetic diseases
- P14R (p.Pro14Arg), rs1007915253, ClinGen CA405275805, ClinVar RCV000550884, ClinVar RCV001821502, REVEL 0.13, MetaLR 0.07, Conflicting interpretations, Inborn genetic diseases; not specified; not provided
- M15I (p.Met15Ile), rs1366281839, ClinGen CA405275796, ClinVar RCV001316011, TOPMed rs1366281839, REVEL 0.13, MetaLR 0.09, Uncertain significance, Acute myeloid leukemia
- M15K (p.Met15Lys), rs1600024585, ClinGen CA405275799, ClinVar RCV003635291, REVEL 0.18, MetaLR 0.12, Uncertain significance, Acute myeloid leukemia
- M15L (p.Met15Leu), rs1967203329, ClinGen CA405275803, ClinVar RCV001043287, ClinVar RCV002255609, REVEL 0.21, MetaLR 0.07, Uncertain significance, Inborn genetic diseases
- M15T (p.Met15Thr), rs1600024585, ClinGen CA405275800, ClinVar RCV000805792, Ensembl rs1600024585, REVEL 0.19, MetaLR 0.09, Uncertain significance, Acute myeloid leukemia
- M15V (p.Met15Val), rs1967203329, ClinGen CA405275802, ClinVar RCV001884839, Ensembl rs1967203329, REVEL 0.19, MetaLR 0.08, Uncertain significance, Acute myeloid leukemia
- S16G (p.Ser16Gly), Ensembl rs2145264900, MetaLR 0.08, MetaSVM -1.00
- S16C (p.Ser16Cys), rs919904139, Uncertain significance
- S17G (p.Ser17Gly), rs2145264889, ClinGen CA405275785, ClinVar RCV001970813, Ensembl rs2145264889, AlphaMissense 0.16, MetaLR 0.08, Uncertain significance, Acute myeloid leukemia
- S17R (p.Ser17Arg), rs1245499278, ClinGen CA405275780, ClinVar RCV000528397, ClinVar RCV005801819, REVEL 0.11, MetaLR 0.09, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- S17T (p.Ser17Thr), Ensembl rs2145264881, MetaLR 0.06, MetaSVM -1.02
- H18Q (p.His18Gln), rs1600024552, ClinGen CA405275771, ClinVar RCV000800564, Ensembl rs1600024552, REVEL 0.06, MetaLR 0.06, Uncertain significance, Acute myeloid leukemia
- H18Y (p.His18Tyr), rs1600024559, ClinGen CA405275776, ClinVar RCV000822838, ClinVar RCV002256551, REVEL 0.03, MetaLR 0.07, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Inborn genetic diseases
- L19P (p.Leu19Pro), Ensembl rs1315626965, REVEL 0.21, AlphaMissense 0.30, Uncertain significance
- L19Q (p.Leu19Gln), Ensembl rs1315626965, Uncertain significance
- L19R (p.Leu19Arg), rs1315626965, ClinGen CA405275766, ClinVar RCV003518473, Ensembl rs1315626965, AlphaMissense 0.30, MetaLR 0.06, Uncertain significance, Acute myeloid leukemia
- Q20H (p.Gln20His), rs1060502123, ClinGen CA16616251, ClinVar RCV000459476, ClinVar RCV003441874, REVEL 0.07, MetaLR 0.08, Conflicting interpretations, Inborn genetic diseases; not provided; Acute myeloid leukemia
- Q20R (p.Gln20Arg), rs1329725504, ClinGen CA405275762, ClinVar RCV001885683, ClinVar RCV004980844, REVEL 0.04, MetaLR 0.07, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- S21G (p.Ser21Gly), Ensembl rs2145264808, REVEL 0.05, MetaLR 0.04
- S21I (p.Ser21Ile), rs890855027, ClinGen CA307844453, ClinVar RCV001352067, ClinVar RCV004978396, REVEL 0.08, MetaLR 0.06, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- S21N (p.Ser21Asn), rs890855027, ClinGen CA405275755, ClinVar RCV003634216, REVEL 0.09, MetaLR 0.05, Uncertain significance, Acute myeloid leukemia
- S21R (p.Ser21Arg), rs867113214, ClinGen CA16616044, ClinVar RCV000458764, ClinVar RCV002255394, REVEL 0.16, MetaLR 0.05, Conflicting interpretations, Acute myeloid leukemia; Inborn genetic diseases
- S21T (p.Ser21Thr), TOPMed rs890855027, gnomAD rs890855027, MetaLR 0.07, MetaSVM -1.04, Uncertain significance
- P22A (p.Pro22Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- P22H (p.Pro22His), 1000Genomes rs575182822, REVEL 0.07, MetaLR 0.09
- P22S (p.Pro22Ser), rs770636941, ClinGen CA9363719, ClinVar RCV001055466, ClinVar RCV004977943, REVEL 0.04, MetaLR 0.06, Conflicting interpretations, Acute myeloid leukemia; Inborn genetic diseases
- P22T (p.Pro22Thr), rs770636941, ClinGen CA405275752, ClinVar RCV001999052, ExAC rs770636941, REVEL 0.04, MetaLR 0.07, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P23L (p.Pro23Leu), rs1308550194, ClinGen CA405275743, ClinVar RCV001342700, TOPMed rs1308550194, REVEL 0.03, MetaLR 0.04, Uncertain significance, Acute myeloid leukemia
- P23Q (p.Pro23Gln), rs1308550194, ClinGen CA405275744, ClinVar RCV000688633, ClinVar RCV002282327, REVEL 0.03, MetaLR 0.05, Uncertain significance, not provided; Acute myeloid leukemia
- P23R (p.Pro23Arg), rs1308550194, ClinGen CA405275745, ClinVar RCV002922936, ClinVar RCV005535457, REVEL 0.03, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P23S (p.Pro23Ser), rs1478319097, ClinGen CA405275746, ClinVar RCV001294626, ClinVar RCV005306377, REVEL 0.03, MetaLR 0.04, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P23T (p.Pro23Thr), rs1478319097, ClinGen CA405275748, ClinVar RCV001320448, ClinVar RCV002256742, REVEL 0.03, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome; Inborn genetic diseases; Acute myeloid
- H24A (p.His24Ala), rs137852728, NCI-TCGA Cosmic COSV5719, NCI-TCGA Cosmic COSV5720, Pathogenic
- H24L (p.His24Leu), Ensembl rs2145264719
- H24P (p.His24Pro), Ensembl rs2145264719, MetaLR 0.08, MetaSVM -0.98
- H24Q (p.His24Gln), rs1555742309, ClinGen CA405275736, ClinVar RCV000631434, TOPMed rs1555742309, REVEL 0.06, MetaLR 0.07, Uncertain significance, Acute myeloid leukemia
- A25P (p.Ala25Pro), rs1600024440, ClinGen CA405275733, ClinVar RCV000822192, Ensembl rs1600024440, AlphaMissense 0.09, MetaLR 0.05, Uncertain significance, Acute myeloid leukemia
- A25V (p.Ala25Val), rs2145264688, ClinGen CA405275729, ClinVar RCV001875415, ClinVar RCV005308555, REVEL 0.04, MetaLR 0.04, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P26R (p.Pro26Arg), rs1216903258, ClinGen CA405275724, ClinVar RCV002649645, ClinVar RCV005535374, REVEL 0.16, MetaLR 0.10, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- S27G (p.Ser27Gly), rs1967201448, ClinGen CA405275720, ClinVar RCV001314074, Ensembl rs1967201448, AlphaMissense 0.09, MetaLR 0.06, Uncertain significance, Acute myeloid leukemia
- S27R (p.Ser27Arg), Ensembl rs1967201448, Uncertain significance, Acute myeloid leukemia
- S27T (p.Ser27Thr), rs2145264644, ClinGen CA405275718, ClinVar RCV001919386, ClinVar RCV005308596, AlphaMissense 0.10, MetaLR 0.08, Uncertain significance, Acute myeloid leukemia; Inborn genetic diseases
- S28G (p.Ser28Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S28N (p.Ser28Asn), rs2145264621, ClinGen CA405275712, ClinVar RCV001954859, Ensembl rs2145264621, REVEL 0.06, MetaLR 0.06, Conflicting interpretations, Acute myeloid leukemia; Inborn genetic diseases
- S28R (p.Ser28Arg), Ensembl rs2145264631
- A29P (p.Ala29Pro), Ensembl rs2145264604, Uncertain significance
- A29S (p.Ala29Ser), rs2145264604, ClinGen CA405275707, ClinVar RCV001989881, Ensembl rs2145264604, REVEL 0.07, MetaLR 0.05, Uncertain significance, Acute myeloid leukemia
- A29T (p.Ala29Thr), Ensembl rs2145264604, REVEL 0.08, MetaLR 0.05, Uncertain significance
- A30P (p.Ala30Pro), Ensembl rs1555742305, Uncertain significance
- A30S (p.Ala30Ser), rs1555742305, ClinGen CA405275699, ClinVar RCV000536607, Ensembl rs1555742305, REVEL 0.14, MetaLR 0.17, Uncertain significance, Acute myeloid leukemia
- A30V (p.Ala30Val), gnomAD rs1366483522, REVEL 0.12, MetaLR 0.16, Uncertain significance, Acute myeloid leukemia
- F31L (p.Phe31Leu), rs2145264560, NCI-TCGA Cosmic COSV5719, ClinGen CA405275688, REVEL 0.05, AlphaMissense 0.21, Uncertain significance, Acute myeloid leukemia
- G32A (p.Gly32Ala), Ensembl rs2145264553, MetaLR 0.07, MetaSVM -0.99
- G32C (p.Gly32Cys), gnomAD rs1348778034, REVEL 0.13, AlphaMissense 0.30, Uncertain significance
- G32R (p.Gly32Arg), gnomAD rs1348778034, REVEL 0.07, AlphaMissense 0.24, Uncertain significance, Inborn genetic diseases
- G32S (p.Gly32Ser), rs1348778034, ClinGen CA405275687, ClinVar RCV000551488, ClinVar RCV005801820, REVEL 0.06, AlphaMissense 0.33, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- F33L (p.Phe33Leu), Ensembl rs2145264545, REVEL 0.06, AlphaMissense 0.26, Uncertain significance, Inborn genetic diseases
- F33S (p.Phe33Ser), Ensembl rs2145264537, REVEL 0.05, MetaLR 0.05
- P34S (p.Pro34Ser), rs996435066, ClinGen CA405275673, ClinVar RCV000631428, ClinVar RCV002298715, REVEL 0.03, MetaLR 0.03, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- P34T (p.Pro34Thr), rs996435066, ClinGen CA307844436, ClinVar RCV001338310, ClinVar RCV002546843, REVEL 0.01, MetaLR 0.05, Uncertain significance, Inborn genetic diseases
- R35G (p.Arg35Gly), gnomAD rs1238054852, REVEL 0.14, AlphaMissense 0.16, Likely benign, Inborn genetic diseases
- R35P (p.Arg35Pro), TOPMed rs1967200345, gnomAD rs1967200345, REVEL 0.17, MetaLR 0.13, Uncertain significance, Inborn genetic diseases
- R35Q (p.Arg35Gln), rs1967200345, ClinGen CA405275665, ClinVar RCV001206529, TOPMed rs1967200345, REVEL 0.08, MetaLR 0.06, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- R35W (p.Arg35Trp), rs1238054852, ClinGen CA405275667, ClinVar RCV001227110, gnomAD rs1238054852, REVEL 0.13, AlphaMissense 0.21, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- G36D (p.Gly36Asp), rs746522150, ClinGen CA9363718, ClinVar RCV000526970, ClinVar RCV002291655, REVEL 0.06, MetaLR 0.03, Conflicting interpretations, Inborn genetic diseases; not provided; Acute myeloid leukemia
- G36S (p.Gly36Ser), rs1967200117, ClinGen CA405275663, ClinVar RCV001322256, Ensembl rs1967200117, REVEL 0.03, MetaLR 0.05, Uncertain significance, Acute myeloid leukemia
- G36V (p.Gly36Val), ExAC rs746522150, TOPMed rs746522150, gnomAD rs746522150, REVEL 0.04, MetaLR 0.04, Likely benign, Inborn genetic diseases
- A37E (p.Ala37Glu), gnomAD rs1967199569, REVEL 0.06, MetaLR 0.04, Uncertain significance
- A37T (p.Ala37Thr), rs1404014711, ClinGen CA405275656, ClinVar RCV000815128, TOPMed rs1404014711, REVEL 0.02, MetaLR 0.03, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- A37V (p.Ala37Val), rs1967199569, ClinGen CA405275653, ClinVar RCV003633295, ClinVar RCV005806820, REVEL 0.07, MetaLR 0.04, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- G38C (p.Gly38Cys), rs2145264443, ClinGen CA405275650, NCI-TCGA Cosmic COSV5719, ClinVar RCV003052550, REVEL 0.08, MetaLR 0.05, Uncertain significance, Acute myeloid leukemia
- G38D (p.Gly38Asp), rs1967199337, ClinGen CA405275649, ClinVar RCV001317040, Ensembl rs1967199337, REVEL 0.04, MetaLR 0.03, Uncertain significance, Acute myeloid leukemia
- G38S (p.Gly38Ser), rs2145264443, ClinGen CA405275652, ClinVar RCV002942920, Ensembl rs2145264443, REVEL 0.07, MetaLR 0.04, Uncertain significance, Acute myeloid leukemia
- G38V (p.Gly38Val), Ensembl rs1967199337, REVEL 0.04, AlphaMissense 0.78, Uncertain significance
- P39A (p.Pro39Ala), rs1967199149, ClinGen CA405275645, ClinVar RCV001038661, ClinVar RCV005232071, REVEL 0.03, AlphaMissense 0.90, Conflicting interpretations, Inborn genetic diseases; not provided; Acute myeloid leukemia
- P39L (p.Pro39Leu), rs1060502125, ClinGen CA16616269, ClinVar RCV000460550, ClinVar RCV005306023, REVEL 0.01, MetaLR 0.05, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- P39R (p.Pro39Arg), rs1060502125, ClinGen CA405275643, ClinVar RCV002867293, ClinVar RCV005535439, REVEL 0.01, MetaLR 0.06, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P39S (p.Pro39Ser), Ensembl rs1967199149, REVEL 0.04, AlphaMissense 0.42, Likely benign, Inborn genetic diseases
- A40P (p.Ala40Pro), Ensembl rs2145264401
- A40T (p.Ala40Thr), rs2145264401, ClinGen CA405275641, ClinVar RCV002917947, REVEL 0.02, MetaLR 0.04, Uncertain significance, Acute myeloid leukemia
- A40V (p.Ala40Val), rs1967198676, ClinGen CA405275636, ClinVar RCV001304328, ClinVar RCV005802112, REVEL 0.05, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- Q41H (p.Gln41His), rs2145264351, ClinGen CA405275629, ClinVar RCV003089820, ClinVar RCV005310902, REVEL 0.07, MetaLR 0.07, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- Q41L (p.Gln41Leu), TOPMed rs1401980765, gnomAD rs1401980765, REVEL 0.08, MetaLR 0.05
- Q41P (p.Gln41Pro), NCI-TCGA TCGA novel, TOPMed rs1401980765, gnomAD rs1401980765, Variant assessed as somatic; high impact.
- Q41R (p.Gln41Arg), TOPMed rs1401980765, gnomAD rs1401980765, REVEL 0.05, MetaLR 0.04
- P42F (p.Pro42Phe), rs2145264332, ClinGen CA2499225434, ClinVar RCV001362573, Ensembl rs2145264332, Uncertain significance, Acute myeloid leukemia
- P42H (p.Pro42His), NCI-TCGA TCGA novel, REVEL 0.10, MetaLR 0.12, Variant assessed as somatic; high impact.
- P42S (p.Pro42Ser), rs1382321984, ClinGen CA405275625, ClinVar RCV001365663, ClinVar RCV005532981, REVEL 0.09, MetaLR 0.07, Conflicting interpretations, not provided; Inborn genetic diseases; Acute myeloid leukemia
- P43L (p.Pro43Leu), Ensembl rs2145264319, REVEL 0.04, MetaLR 0.06
- P43S (p.Pro43Ser), rs2513333069, ClinGen CA405275619, ClinVar RCV003043497, REVEL 0.03, AlphaMissense 0.47, Uncertain significance, Acute myeloid leukemia
- A44P (p.Ala44Pro), gnomAD rs1442183367, REVEL 0.07, MetaLR 0.10
- A44S (p.Ala44Ser), gnomAD rs1442183367, REVEL 0.04, MetaLR 0.06
- A44V (p.Ala44Val), rs1967197829, ClinGen CA405275610, ClinVar RCV001911428, TOPMed rs1967197829, REVEL 0.09, MetaLR 0.05, Uncertain significance, Acute myeloid leukemia
- P45A (p.Pro45Ala), rs2145264273, ClinGen CA405275608, ClinVar RCV002034038, Ensembl rs2145264273, REVEL 0.05, MetaLR 0.06, Uncertain significance, Inborn genetic diseases
- P45L (p.Pro45Leu), rs1967197509, ClinGen CA405275604, ClinVar RCV003005056, REVEL 0.06, MetaLR 0.07, Uncertain significance, Acute myeloid leukemia
- P45Q (p.Pro45Gln), Ensembl rs1967197509, REVEL 0.04, MetaLR 0.07, Uncertain significance, Inborn genetic diseases
- P45T (p.Pro45Thr), rs2513333041, ClinGen CA2580096810, ClinVar RCV003010024, REVEL 0.04, MetaLR 0.05, Uncertain significance, Acute myeloid leukemia
- P46L (p.Pro46Leu), Ensembl rs2145264231, REVEL 0.04, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- A47C (p.Ala47Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A47P (p.Ala47Pro), gnomAD rs1182161658, Uncertain significance
- A47S (p.Ala47Ser), rs1182161658, ClinGen CA405275595, ClinVar RCV001060618, gnomAD rs1182161658, REVEL 0.07, MetaLR 0.07, Uncertain significance, Acute myeloid leukemia
- A47T (p.Ala47Thr), gnomAD rs1182161658, REVEL 0.04, MetaLR 0.06, Uncertain significance
- A47V (p.Ala47Val), rs1444506221, ClinGen CA405275592, ClinVar RCV001319446, gnomAD rs1444506221, REVEL 0.06, MetaLR 0.10, Uncertain significance, Acute myeloid leukemia
- A48P (p.Ala48Pro), TOPMed rs892805896, gnomAD rs892805896, REVEL 0.14, MetaLR 0.13, Uncertain significance
- A48S (p.Ala48Ser), rs892805896, ClinGen CA405275590, ClinVar RCV003518387, REVEL 0.11, MetaLR 0.10, Uncertain significance, Acute myeloid leukemia
- A48T (p.Ala48Thr), rs892805896, ClinGen CA307844429, ClinVar RCV001214994, ClinVar RCV005306318, REVEL 0.12, MetaLR 0.09, Uncertain significance, Acute myeloid leukemia; Inborn genetic diseases
- P49L (p.Pro49Leu), rs1967196919, ClinGen CA405275581, ClinVar RCV003074262, ClinVar RCV004070386, REVEL 0.07, MetaLR 0.07, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- P49R (p.Pro49Arg), rs2513332961, ClinGen CA645612873, ClinVar RCV002282596, REVEL 0.07, MetaLR 0.07, Uncertain significance, Acute myeloid leukemia
- P49T (p.Pro49Thr), rs2145264153, ClinGen CA405275586, ClinVar RCV001928243, ClinVar RCV003355647, REVEL 0.03, MetaLR 0.06, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P49A (p.Pro49Ala), rs961496947, Uncertain significance
- E50* (p.Glu50Ter), rs121912791, ClinGen CA280228, ClinVar RCV000019127, Ensembl rs121912791, CADD 36.00, Pathogenic
- E50A (p.Glu50Ala), Ensembl rs2145264123, MetaLR 0.05, MetaSVM -1.09
- E50D (p.Glu50Asp), Ensembl rs1967196743, REVEL 0.03, AlphaMissense 0.89, Uncertain significance, Inborn genetic diseases
- E50G (p.Glu50Gly), Ensembl rs2145264123, REVEL 0.15, MetaLR 0.03
- P51A (p.Pro51Ala), rs1278513408, ClinGen CA405275572, ClinVar RCV001048574, ClinVar RCV005532825, REVEL 0.08, AlphaMissense 0.92, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- P51L (p.Pro51Leu), rs1341205888, ClinGen CA405275568, ClinVar RCV001070748, ClinVar RCV005306273, REVEL 0.04, MetaLR 0.03, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- P51S (p.Pro51Ser), rs1278513408, ClinGen CA405275571, ClinVar RCV001047879, ClinVar RCV006347344, REVEL 0.07, AlphaMissense 0.28, Uncertain significance, Acute myeloid leukemia; Inborn genetic diseases
- L52P (p.Leu52Pro), rs936973108, ClinGen CA307844425, ClinVar RCV000631437, ClinVar RCV003918006, REVEL 0.09, MetaLR 0.09, Uncertain significance, not provided; Acute myeloid leukemia
- G53C (p.Gly53Cys), Ensembl rs1967196253, REVEL 0.20, AlphaMissense 0.17, Uncertain significance
- G53S (p.Gly53Ser), rs1967196253, ClinGen CA405275563, ClinVar RCV001308122, Ensembl rs1967196253, REVEL 0.11, AlphaMissense 0.13, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- G53V (p.Gly53Val), rs1600024079, ClinGen CA405275558, ClinVar RCV000792449, Ensembl rs1600024079, REVEL 0.26, MetaLR 0.30, Uncertain significance, Acute myeloid leukemia
- G54C (p.Gly54Cys), rs777090929, ClinGen CA9363717, ClinVar RCV004431193, ClinVar RCV005104595, REVEL 0.12, AlphaMissense 0.28, Uncertain significance, Acute myeloid leukemia; Inborn genetic diseases
- G54D (p.Gly54Asp), Ensembl rs2145264041, REVEL 0.08, MetaLR 0.01, Uncertain significance, Inborn genetic diseases
- G54R (p.Gly54Arg), rs777090929, ClinGen CA405275557, ClinVar RCV003095767, ClinVar RCV004786835, REVEL 0.08, AlphaMissense 0.17, Uncertain significance, not provided; Acute myeloid leukemia
- G54S (p.Gly54Ser), rs777090929, ClinGen CA405275556, ClinVar RCV001341219, ClinVar RCV004968069, REVEL 0.08, AlphaMissense 0.26, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- G54V (p.Gly54Val), Ensembl rs2145264041, REVEL 0.08, MetaLR 0.03
- I55L (p.Ile55Leu), Ensembl rs2145264011, MetaLR 0.08, MetaSVM -0.97
- C56* (p.Cys56Ter), rs1967195832, ClinGen CA405275539, ClinVar RCV001054756, Ensembl rs1967195832, CADD 36.00, Pathogenic
- C56S (p.Cys56Ser), rs2513332860, ClinGen CA405275545, ClinVar RCV003460386, REVEL 0.21, AlphaMissense 0.08, Uncertain significance, Acute myeloid leukemia
- C56W (p.Cys56Trp), Ensembl rs1967195832, MetaLR 0.10, MetaSVM -1.04, Uncertain significance, Inborn genetic diseases
- E57D (p.Glu57Asp), rs1967195766, ClinGen CA405275531, ClinVar RCV001224583, ClinVar RCV004963246, REVEL 0.05, MetaLR 0.05, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- E57K (p.Glu57Lys), rs2145263987, ClinGen CA405275535, ClinVar RCV002295075, ClinVar RCV005308762, REVEL 0.20, AlphaMissense 0.09, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- H58L (p.His58Leu), Ensembl rs2145263969, MetaLR 0.05, MetaSVM -1.03
- H58Q (p.His58Gln), rs878854699, ClinGen CA405275522, ClinVar RCV003002618, ClinVar RCV005308885, REVEL 0.15, MetaLR 0.05, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
- H58Y (p.His58Tyr), Ensembl rs2145263976, REVEL 0.06, MetaLR 0.05
- E59* (p.Glu59Ter), rs1210600080, ClinGen CA405275521, ClinVar RCV001269749, ClinVar RCV001880198, AlphaMissense 0.06, MetaLR 0.04, Pathogenic
- E59Q (p.Glu59Gln), gnomAD rs1210600080, Pathogenic
- E59R (p.Glu59Arg), rs2513332781, ClinGen CA645612835, ClinVar RCV002282600, Pathogenic
- T60A (p.Thr60Ala), gnomAD rs1060502120, REVEL 0.07, AlphaMissense 0.43, Uncertain significance
- T60M (p.Thr60Met), rs1060502119, ClinGen CA16616040, ClinVar RCV000471685, ClinVar RCV005801796, REVEL 0.06, MetaLR 0.12, Conflicting interpretations, Inborn genetic diseases; Acute myeloid leukemia
- T60S (p.Thr60Ser), rs1060502120, ClinGen CA16616041, ClinVar RCV000457308, ClinVar RCV005801797, AlphaMissense 0.43, MetaLR 0.06, Uncertain significance, Inborn genetic diseases; Acute myeloid leukemia
Public CEBPA analysis runs
- CEBPA analysis run — CEBPA (1,467 variants) — completed 2026-08-18