TP53 (Cellular tumor antigen p53) variants and mutations
TP53 (also known as Cellular tumor antigen p53) is a human protein-coding gene encoding a cellular tumor antigen p53 protein. It coordinates transcriptional responses to DNA damage and other cellular stresses, promoting cell-cycle arrest, senescence, DNA repair, or apoptosis when appropriate. Loss of this tumor-suppressive control is one of the most common events in cancer, while germline pathogenic variants cause Li-Fraumeni syndrome. This analysis covers 2,743 TP53 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes Li-Fraumeni syndrome, hepatocellular carcinoma, and head and neck squamous cell carcinoma. Example TP53 variants include M1?, E2*, and E2D.
Variant analysis overview
- Gene: TP53
- Protein: Cellular tumor antigen p53
- UniProt accession: P04637
- Organism: Homo sapiens
- Variants analyzed: 2743
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 2,557 unspecified-consequence records; 2 stop retained variant; 4 stop lost; 31 synonymous variants; 128 missense variants; 10 frameshift variants; 7 stop-gained variants; 2 splice-region variants; 2 substitution
- Prediction scores: 2,436 variants have prediction scores (89% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Li-Fraumeni syndrome, hepatocellular carcinoma, head and neck squamous cell carcinoma, Hereditary breast cancer, hereditary breast carcinoma, colorectal cancer, lung adenocarcinoma, esophageal cancer, choroid plexus papilloma, acute myeloid leukemia, bone marrow failure syndrome, bone osteosarcoma.
Protein structure and variant hotspots
- Protein features: 4 binding sites; 30 post-translational modification sites.
- PTM context: 166 variants overlap post-translational modification sites.
- Experimental data: 192 protein positions have experimental scores. Source: growth fitness assays.
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, PharmGKB, MaveDB, LitVar.
Notable TP53 variants
Examples include M1?, E2*, E2D, E2G, E2K, E2Q, E3*, E3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV10730, NCI-TCGA Cosmic COSV9940, cosmic curated COSV99403, Variant assessed as somatic; high impact.
- E2* (p.Glu2Ter), ExAC rs769884991, TOPMed rs769884991, gnomAD rs769884991, Uncertain significance
- E2D (p.Glu2Asp), ESP rs143458271, ExAC rs143458271, TOPMed rs143458271, gnomAD rs143458271, ESM-1b 0.00, AlphaMissense 0.10, Benign
- E2G (p.Glu2Gly), rs2073524631, ClinGen CA397849519, ClinVar RCV001189589, ClinVar RCV001876218, ESM-1b 0.00, AlphaMissense 0.19, Uncertain significance, Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syn
- E2K (p.Glu2Lys), rs769884991, ClinGen CA004009, ClinVar RCV000579480, ClinVar RCV000695387, REVEL 0.55, ESM-1b 0.62, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- E2Q (p.Glu2Gln), ExAC rs769884991, TOPMed rs769884991, gnomAD rs769884991, REVEL 0.58, ESM-1b 0.00, Uncertain significance
- E3* (p.Glu3Ter), cosmic curated COSV10502, TOPMed rs2073524362, Uncertain significance
- E3G (p.Glu3Gly), rs786203938, ClinGen CA000486, cosmic curated COSV53377, ClinVar RCV000167456, REVEL 0.47, ESM-1b 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- E3K (p.Glu3Lys), rs2073524362, ClinGen CA397849502, ClinVar RCV001064070, ClinVar RCV001525558, ESM-1b 0.00, AlphaMissense 0.20, Conflicting interpretations, Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syn
- E3Q (p.Glu3Gln), rs2073524362, ClinGen CA397849493, ClinVar RCV001068360, ClinVar RCV002282452, ESM-1b 0.00, AlphaMissense 0.20, Uncertain significance, not specified; Lung adenocarcinoma; Li-Fraumeni syndrome
- E3V (p.Glu3Val), NCI-TCGA Cosmic COSV5337, Ensembl rs786203938, REVEL 0.47, ESM-1b 0.00, Uncertain significance
- P4A (p.Pro4Ala), rs1356004172, ClinGen CA397849453, ClinVar RCV003623194, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Li-Fraumeni syndrome
- P4L (p.Pro4Leu), rs878854064, ClinGen CA10583686, NCI-TCGA Cosmic COSV5280, cosmic curated COSV52800, REVEL 0.53, ESM-1b 0.00, Likely benign, Li-Fraumeni syndrome
- P4Q (p.Pro4Gln), rs878854064, ClinGen CA397849437, ClinVar RCV003177169, Ensembl rs878854064, ESM-1b 0.00, AlphaMissense 0.09, Likely benign, Hereditary cancer-predisposing syndrome
- P4R (p.Pro4Arg), rs878854064, ClinGen CA16615964, ClinVar RCV000475451, ClinVar RCV001010274, REVEL 0.53, ESM-1b 0.00, Conflicting interpretations, Adrenocortical carcinoma, hereditary; Nasopharyngeal carcinoma; Colorectal cance
- P4S (p.Pro4Ser), rs1356004172, ClinGen CA397849442, ClinVar RCV002001110, TOPMed rs1356004172, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Li-Fraumeni syndrome
- P4T (p.Pro4Thr), TOPMed rs1356004172, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance
- Q5* (p.Gln5Ter), cosmic curated COSV53393, Ensembl rs2151048010
- Q5E (p.Gln5Glu), Ensembl rs2151048010, ESM-1b 0.00, AlphaMissense 0.06
- Q5H (p.Gln5His), cosmic curated COSV53772, Ensembl rs2151047977, cosmic curated COSV10605, UniProt VAR 044543, ESM-1b 0.00, AlphaMissense 0.10, Likely benign, in a sporadic cancer
- Q5K (p.Gln5Lys), Ensembl rs2151048010, ESM-1b 0.00, AlphaMissense 0.09
- Q5L (p.Gln5Leu), ExAC rs781595324, TOPMed rs781595324, gnomAD rs781595324, REVEL 0.55, ESM-1b 0.00, Uncertain significance, in a sporadic cancer
- Q5R (p.Gln5Arg), rs781595324, ClinGen CA003990, ClinVar RCV000220312, ClinVar RCV000550564, REVEL 0.56, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- S6A (p.Ser6Ala), gnomAD rs1357147493, ESM-1b 0.00, AlphaMissense 0.06
- S6L (p.Ser6Leu), UniProt VAR 044544, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, in a sporadic cancer
- S6P (p.Ser6Pro), gnomAD rs1357147493, REVEL 0.59, ESM-1b 0.00
- S6T (p.Ser6Thr), gnomAD rs1357147493, ESM-1b 0.00, AlphaMissense 0.07
- D7E (p.Asp7Glu), rs587781277, ClinGen CA397849316, ClinVar RCV000574520, TOPMed rs587781277, REVEL 0.52, ESM-1b 0.00, Likely benign, Li-Fraumeni syndrome
- D7H (p.Asp7His), rs587782646, ClinGen CA000065, cosmic curated COSV53068, ClinVar RCV000132048, REVEL 0.47, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1
- D7N (p.Asp7Asn), rs587782646, ClinGen CA397849365, ClinVar RCV002417095, TOPMed rs587782646, ESM-1b 0.00, AlphaMissense 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome
- D7Y (p.Asp7Tyr), TOPMed rs587782646, gnomAD rs587782646, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, in a sporadic cancer
- P8A (p.Pro8Ala), Ensembl rs1597376589, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Li-Fraumeni syndrome
- P8L (p.Pro8Leu), rs876659415, ClinGen CA10580967, ClinVar RCV000221732, Ensembl rs876659415, ESM-1b 0.00, AlphaMissense 0.06, Likely benign, Hereditary cancer-predisposing syndrome
- P8R (p.Pro8Arg), rs876659415, ClinGen CA397849290, ClinVar RCV002459647, ESM-1b 0.00, AlphaMissense 0.06, Likely benign, Hereditary cancer-predisposing syndrome
- P8S (p.Pro8Ser), cosmic curated COSV10458, Ensembl rs1597376589, UniProt VAR 044545, ESM-1b 0.00, AlphaMissense 0.07, Benign, Li-Fraumeni syndrome
- P8T (p.Pro8Thr), rs1597376589, ClinGen CA397849313, ClinVar RCV000822860, ClinVar RCV001015108, ESM-1b 0.00, AlphaMissense 0.07, Conflicting interpretations, Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syn
- S9C (p.Ser9Cys), Ensembl rs1555527017, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance
- S9G (p.Ser9Gly), cosmic curated COSV53269, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Li-Fraumeni syndrome
- S9N (p.Ser9Asn), rs1555527015, ClinGen CA397849248, ClinVar RCV000534258, ClinVar RCV004787847, REVEL 0.37, ESM-1b 0.00, Conflicting interpretations, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- S9R (p.Ser9Arg), rs757282628, ClinGen CA003949, ClinVar RCV000587100, ClinVar RCV001016639, REVEL 0.50, ESM-1b 0.00, Uncertain significance, Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome
- V10D (p.Val10Asp), rs1418778734, ClinGen CA397849192, ClinVar RCV003622623, gnomAD rs1418778734, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance, Li-Fraumeni syndrome
- V10F (p.Val10Phe), rs535274413, ClinGen CA397849217, ClinVar RCV001243833, ClinVar RCV003294139, ESM-1b 0.00, AlphaMissense 0.09, Conflicting interpretations, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- V10G (p.Val10Gly), rs1418778734, ClinGen CA397849194, cosmic curated COSV52797, ClinVar RCV001017901, REVEL 0.56, ESM-1b 0.00, Conflicting interpretations, Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-predisposing syn
- V10I (p.Val10Ile), rs535274413, ClinGen CA000093, cosmic curated COSV52756, ClinVar RCV000115717, REVEL 0.47, ESM-1b 0.00, Benign, Li-Fraumeni syndrome
- V10L (p.Val10Leu), rs535274413, ClinGen CA10580966, ClinVar RCV000220427, ClinVar RCV000791760, ESM-1b 0.00, AlphaMissense 0.09, Likely benign, Li-Fraumeni syndrome 1
- E11* (p.Glu11Ter), cosmic curated COSV99383
- E11A (p.Glu11Ala), Ensembl rs2151047770, ESM-1b 0.00, AlphaMissense 0.14
- E11D (p.Glu11Asp), Ensembl rs2151047751, ESM-1b 0.00, AlphaMissense 0.07, Likely benign, in sporadic cancers
- E11G (p.Glu11Gly), Ensembl rs2151047770, ESM-1b 0.00, AlphaMissense 0.14
- E11K (p.Glu11Lys), rs201382018, ClinGen CA003910, NCI-TCGA Cosmic COSV5274, NCI-TCGA Cosmic COSV5293, REVEL 0.53, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1
- E11Q (p.Glu11Gln), rs201382018, ClinGen CA000106, cosmic curated COSV52746, ClinVar RCV000034640, REVEL 0.45, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- E11V (p.Glu11Val), Ensembl rs2151047770, REVEL 0.45, ESM-1b 0.00
- P12H (p.Pro12His), rs1482497533, ClinGen CA397849152, ClinVar RCV000701186, gnomAD rs1482497533, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Li-Fraumeni syndrome
- P12L (p.Pro12Leu), rs1482497533, ClinGen CA397849144, ClinVar RCV000633363, ClinVar RCV000772527, ESM-1b 0.00, AlphaMissense 0.08, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- P12R (p.Pro12Arg), rs1482497533, ClinGen CA397849154, ClinVar RCV000821845, ClinVar RCV002259033, REVEL 0.56, ESM-1b 0.00, Conflicting interpretations, Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syn
- P13A (p.Pro13Ala), rs1060501208, ClinGen CA397849119, ClinVar RCV002363952, ClinVar RCV003775735, ESM-1b 0.00, AlphaMissense 0.17, Conflicting interpretations, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- P13H (p.Pro13His), TOPMed rs878854070, gnomAD rs878854070, ESM-1b 0.00, AlphaMissense 0.35, Uncertain significance
- P13L (p.Pro13Leu), rs878854070, ClinGen CA10583685, cosmic curated COSV52942, ClinVar RCV000226793, REVEL 0.77, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- P13R (p.Pro13Arg), rs878854070, ClinGen CA397849109, ClinVar RCV000571735, ClinVar RCV001044075, ESM-1b 0.00, AlphaMissense 0.27, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- P13S (p.Pro13Ser), rs1060501208, ClinGen CA16616008, cosmic curated COSV53056, ClinVar RCV000468196, REVEL 0.72, ESM-1b 0.00, Uncertain significance, Li-Fraumeni syndrome
- L14M (p.Leu14Met), Ensembl rs1567558112, ESM-1b 0.00, AlphaMissense 0.17, Likely benign
- L14P (p.Leu14Pro), NCI-TCGA TCGA novel, Ensembl rs2151047655, ESM-1b 0.00, AlphaMissense 0.54, Variant assessed as somatic; moderate impact.
- L14Q (p.Leu14Gln), rs2151047655, ClinGen CA397849092, ClinVar RCV002871404, ClinVar RCV004948813, ESM-1b 0.00, AlphaMissense 0.74, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- L14V (p.Leu14Val), rs1567558112, ClinGen CA397849099, ClinVar RCV000699996, ClinVar RCV001187937, REVEL 0.67, ESM-1b 0.00, Conflicting interpretations, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndr
- S15C (p.Ser15Cys), Ensembl rs2073520545, ESM-1b 0.00, AlphaMissense 0.45, Uncertain significance, in a sporadic cancer
- S15G (p.Ser15Gly), Ensembl rs2073520545, REVEL 0.80, ESM-1b 0.00, Uncertain significance, Li-Fraumeni syndrome
- S15I (p.Ser15Ile), TOPMed rs2073520420, gnomAD rs2073520420, ESM-1b 0.00, AlphaMissense 0.89, Uncertain significance, Li-Fraumeni syndrome
- S15K (p.Ser15Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact., in a sporadic cancer
- S15N (p.Ser15Asn), TOPMed rs2073520420, gnomAD rs2073520420, REVEL 0.71, ESM-1b 0.00
- S15R (p.Ser15Arg), rs2073520545, ClinGen CA397849074, ClinVar RCV001316024, Ensembl rs2073520545, REVEL 0.72, ESM-1b 0.30, Uncertain significance, Li-Fraumeni syndrome
- S15T (p.Ser15Thr), TOPMed rs2073520420, gnomAD rs2073520420, REVEL 0.75, ESM-1b 0.00
- Q16* (p.Gln16Ter), cosmic curated COSV53806, Ensembl rs2151047550, Uncertain significance, in a sporadic cancer
- Q16E (p.Gln16Glu), Ensembl rs2151047550, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance, in a sporadic cancer
- Q16H (p.Gln16His), rs1597376489, ClinGen CA397848970, ClinVar RCV000796121, ClinVar RCV003141781, ESM-1b 0.00, AlphaMissense 0.90, Uncertain significance, Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Adrenocortical carcinoma, heredita
- Q16K (p.Gln16Lys), rs2151047550, ClinGen CA397849034, ClinVar RCV001882571, ClinVar RCV002334579, ESM-1b 0.00, AlphaMissense 0.57, Uncertain significance, Li-Fraumeni syndrome
- Q16L (p.Gln16Leu), cosmic curated COSV53100, UniProt VAR 044550, ESM-1b 0.00, AlphaMissense 0.55, Uncertain significance, in a sporadic cancer
- Q16R (p.Gln16Arg), rs2073520057, ClinGen CA397848986, ClinVar RCV001035873, ClinVar RCV003467707, ESM-1b 0.00, AlphaMissense 0.53, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- E17* (p.Glu17Ter), cosmic curated COSV10878
- E17D (p.Glu17Asp), Ensembl rs2151047501, UniProt VAR 044551, ESM-1b 0.00, AlphaMissense 0.26, Uncertain significance, in a sporadic cancer
- E17K (p.Glu17Lys), cosmic curated COSV10458, ESM-1b 0.84, AlphaMissense 0.63, Uncertain significance, Hereditary cancer-predisposing syndrome
- E17V (p.Glu17Val), Ensembl rs2151047516, REVEL 0.70, ESM-1b 0.00
- T18A (p.Thr18Ala), cosmic curated COSV53626, ESM-1b 0.00, AlphaMissense 0.49
- T18P (p.Thr18Pro), Ensembl rs2151047486, ESM-1b 0.00, AlphaMissense 0.81, Uncertain significance
- T18S (p.Thr18Ser), rs2151047486, ClinGen CA397848907, ClinVar RCV001947634, Ensembl rs2151047486, ESM-1b 0.00, AlphaMissense 0.31, Uncertain significance, Li-Fraumeni syndrome
- F19I (p.Phe19Ile), Ensembl rs2151047453, ESM-1b 0.00, AlphaMissense 0.87
- F19L (p.Phe19Leu), Ensembl rs2151047453, ESM-1b 0.00, AlphaMissense 0.99
- F19S (p.Phe19Ser), cosmic curated COSV52802, ESM-1b 0.00, AlphaMissense 0.98
- F19V (p.Phe19Val), Ensembl rs2151047453, ESM-1b 0.00, AlphaMissense 0.83
- F19Y (p.Phe19Tyr), Ensembl rs2151047443, REVEL 0.83, ESM-1b 0.00
- S20* (p.Ser20Ter), NCI-TCGA Cosmic COSV5322, NCI-TCGA Cosmic COSV9940, cosmic curated COSV99400, Ensembl rs1597376439, Uncertain significance
- S20L (p.Ser20Leu), rs1597376439, ClinGen CA397848775, cosmic curated COSV53226, ClinVar RCV001024777, ESM-1b 0.00, AlphaMissense 0.15, Uncertain significance, Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; not provided
- S20P (p.Ser20Pro), rs876659913, ClinGen CA10580963, ClinVar RCV000219749, ClinVar RCV005090110, REVEL 0.75, ESM-1b 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- S20T (p.Ser20Thr), Ensembl rs876659913, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance
- D21A (p.Asp21Ala), Ensembl rs2151047348, ESM-1b 0.27, AlphaMissense 0.15, Likely benign, Hereditary cancer-predisposing syndrome
- D21E (p.Asp21Glu), rs1800369, ClinGen CA003831, ClinVar RCV003509873, ClinVar RCV005505680, ESM-1b 0.00, AlphaMissense 0.16, Conflicting interpretations, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- D21G (p.Asp21Gly), Ensembl rs2151047348, ESM-1b 0.57, AlphaMissense 0.16
- D21H (p.Asp21His), Ensembl rs2151047361, ESM-1b 0.94, AlphaMissense 0.21
- D21N (p.Asp21Asn), Ensembl rs2151047361, REVEL 0.57, ESM-1b 0.56, Uncertain significance, Li-Fraumeni syndrome
- D21V (p.Asp21Val), Ensembl rs2151047348, REVEL 0.84, ESM-1b 1.00
- D21Y (p.Asp21Tyr), cosmic curated COSV99390, Ensembl rs2151047361, REVEL 0.74, ESM-1b 1.00
- L22I (p.Leu22Ile), Ensembl rs2151047310, ESM-1b 0.00, AlphaMissense 0.16
- L22P (p.Leu22Pro), Ensembl rs2151047296, ESM-1b 0.21, AlphaMissense 0.96
- L22Q (p.Leu22Gln), Ensembl rs2151047296, ESM-1b 1.00, AlphaMissense 0.88
- L22R (p.Leu22Arg), Ensembl rs2151047296, ESM-1b 1.00, AlphaMissense 0.84
- L22V (p.Leu22Val), Ensembl rs2151047310, ESM-1b 0.00, AlphaMissense 0.25
- W23* (p.Trp23Ter), cosmic curated COSV53381, Ensembl rs2151047253, NCI-TCGA Cosmic COSV5293, cosmic curated COSV52932, Variant assessed as somatic; high impact.
- W23C (p.Trp23Cys), cosmic curated COSV53724, Ensembl rs2151047243, ESM-1b 0.00, AlphaMissense 0.97
- W23R (p.Trp23Arg), Ensembl rs2151047264, ESM-1b 0.00, AlphaMissense 0.99
- W23S (p.Trp23Ser), Ensembl rs2151047253, ESM-1b 0.00, AlphaMissense 0.94
- K24N (p.Lys24Asn), Ensembl rs2151047211, UniProt VAR 044552, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, in a sporadic cancer
- K24R (p.Lys24Arg), Ensembl rs2151047233, ESM-1b 0.00, AlphaMissense 0.08
- L25P (p.Leu25Pro), Ensembl rs2151047184, ESM-1b 0.00, AlphaMissense 0.62
- L25Q (p.Leu25Gln), Ensembl rs2151047184, ESM-1b 0.00, AlphaMissense 0.13
- L25R (p.Leu25Arg), rs2151047184, ClinGen CA397848625, ClinVar RCV002391618, ESM-1b 0.00, AlphaMissense 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome
- L25V (p.Leu25Val), Ensembl rs1555526988, ESM-1b 0.00, AlphaMissense 0.11, Likely benign
- L26F (p.Leu26Phe), cosmic curated COSV10941, ESM-1b 0.00, AlphaMissense 0.32
- L26H (p.Leu26His), Ensembl rs2151045708, ESM-1b 0.42, AlphaMissense 0.61
- L26I (p.Leu26Ile), rs2073507946, ClinGen CA397848474, ClinVar RCV001184855, Ensembl rs2073507946, ESM-1b 0.00, AlphaMissense 0.19, Uncertain significance, Hereditary cancer-predisposing syndrome
- L26P (p.Leu26Pro), cosmic curated COSV99066, ESM-1b 0.00, AlphaMissense 0.69
- P27A (p.Pro27Ala), rs922736614, ClinGen CA397848447, ClinVar RCV002035792, ClinVar RCV002423240, ESM-1b 0.00, AlphaMissense 0.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- P27L (p.Pro27Leu), rs1555526933, ClinGen CA397848433, NCI-TCGA Cosmic COSV5366, cosmic curated COSV53662, ESM-1b 0.00, AlphaMissense 0.24, Conflicting interpretations, Colorectal cancer; Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndro
- P27R (p.Pro27Arg), rs1555526933, ClinGen CA397848431, ClinVar RCV000822436, ClinVar RCV005870913, ESM-1b 0.00, AlphaMissense 0.24, Uncertain significance, not provided; Li-Fraumeni syndrome
- P27S (p.Pro27Ser), rs922736614, ClinGen CA287489277, NCI-TCGA Cosmic COSV5269, cosmic curated COSV52696, REVEL 0.62, ESM-1b 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; not specified
- P27T (p.Pro27Thr), rs922736614, ClinGen CA16615735, cosmic curated COSV99391, ClinVar RCV000468603, REVEL 0.59, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Li-Fraumeni syndrome 1
- E28A (p.Glu28Ala), UniProt VAR 044553, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, in a sporadic cancer
- E28D (p.Glu28Asp), Ensembl rs2151045615, ESM-1b 0.00, AlphaMissense 0.08
- E28K (p.Glu28Lys), cosmic curated COSV10458, Ensembl rs2151045637, ESM-1b 0.51, AlphaMissense 0.08, Uncertain significance, Li-Fraumeni syndrome
- E28V (p.Glu28Val), rs786202289, ClinGen CA000449, ClinVar RCV000165025, ClinVar RCV001850309, ESM-1b 0.00, AlphaMissense 0.17, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- N29D (p.Asn29Asp), rs1597375899, ClinGen CA397848387, ClinVar RCV001018048, Ensembl rs1597375899, REVEL 0.27, ESM-1b 0.00, Likely benign, Hereditary cancer-predisposing syndrome
- N29H (p.Asn29His), Ensembl rs1597375899, ESM-1b 0.00, AlphaMissense 0.10, Likely benign
- N29I (p.Asn29Ile), Ensembl rs2073506642, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance
- N29K (p.Asn29Lys), rs1011445550, ClinGen CA287489276, ClinVar RCV000791608, ClinVar RCV002256499, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance, Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-predisposing syn
- N29S (p.Asn29Ser), Ensembl rs2073506642, REVEL 0.34, ESM-1b 0.00, Uncertain significance
- N29T (p.Asn29Thr), rs2073506642, ClinGen CA397848371, ClinVar RCV001044957, ClinVar RCV001179225, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-predisposing syn
- N29Y (p.Asn29Tyr), Ensembl rs1597375899, ESM-1b 0.00, AlphaMissense 0.14, Likely benign
- N30K (p.Asn30Lys), cosmic curated COSV53166, ESP rs370992294, ExAC rs370992294, TOPMed rs370992294, ESM-1b 0.00, AlphaMissense 0.19, Likely benign
- N30D (p.Asn30Asp), Ensembl rs2151045566, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Li-Fraumeni syndrome
- N30H (p.Asn30His), Ensembl rs2151045566, ESM-1b 0.00, AlphaMissense 0.08
- N30I (p.Asn30Ile), rs2151045549, ClinGen CA397848340, cosmic curated COSV10502, ClinVar RCV002021059, REVEL 0.50, ESM-1b 0.00, Uncertain significance, Li-Fraumeni syndrome
- N30S (p.Asn30Ser), Ensembl rs2151045549, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance
- N30T (p.Asn30Thr), Ensembl rs2151045549, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance
- N30Y (p.Asn30Tyr), Ensembl rs2151045566, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance, Li-Fraumeni syndrome
- V31A (p.Val31Ala), Ensembl rs2151045491, ESM-1b 0.00, AlphaMissense 0.13
- V31D (p.Val31Asp), Ensembl rs2151045491, ESM-1b 0.00, AlphaMissense 0.13
- V31F (p.Val31Phe), rs201753350, ClinGen CA10580962, ClinVar RCV000222526, ClinVar RCV001854708, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- V31I (p.Val31Ile), rs201753350, ClinGen CA357868, cosmic curated COSV52753, ClinVar RCV000115742, REVEL 0.57, ESM-1b 0.00, Conflicting interpretations, Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not speci
- V31L (p.Val31Leu), 1000Genomes rs201753350, ExAC rs201753350, TOPMed rs201753350, gnomAD rs201753350, ESM-1b 0.00, AlphaMissense 0.09, Benign, in sporadic cancers
- L32P (p.Leu32Pro), Ensembl rs2151045450, ESM-1b 0.00, AlphaMissense 0.10
- L32Q (p.Leu32Gln), Ensembl rs2151045450, ESM-1b 0.00, AlphaMissense 0.11
- L32R (p.Leu32Arg), Ensembl rs2151045450, ESM-1b 0.02, AlphaMissense 0.13, Pathogenic
- L32V (p.Leu32Val), rs1555526920, ClinGen CA397848277, ClinVar RCV002374122, Ensembl rs1555526920, ESM-1b 0.00, AlphaMissense 0.08, Likely benign, Hereditary cancer-predisposing syndrome
- S33* (p.Ser33Ter), cosmic curated COSV99383, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact., in a sporadic cancer
- S33C (p.Ser33Cys), Ensembl rs1555526832, ESM-1b 0.00, AlphaMissense 0.09, Likely benign, in a sporadic cancer
- S33F (p.Ser33Phe), rs1555526832, ClinGen CA397848069, cosmic curated COSV53332, ClinVar RCV000804893, ESM-1b 0.00, AlphaMissense 0.12, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- S33P (p.Ser33Pro), Ensembl rs2073489444, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, in a sporadic cancer
- S33T (p.Ser33Thr), rs2073489444, ClinGen CA397848091, cosmic curated COSV53067, ClinVar RCV001347578, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Li-Fraumeni syndrome
- S33Y (p.Ser33Tyr), rs1555526832, ClinGen CA397848079, ClinVar RCV000561224, ClinVar RCV000819381, REVEL 0.55, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- P34A (p.Pro34Ala), rs786201968, ClinGen CA000012, ClinVar RCV000165887, ClinVar RCV000205889, REVEL 0.43, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- P34H (p.Pro34His), gnomAD rs1322947350, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, in a sporadic cancer
- P34L (p.Pro34Leu), rs1322947350, ClinGen CA397848043, cosmic curated COSV52693, ClinVar RCV001009721, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; not provided
- P34R (p.Pro34Arg), rs1322947350, ClinGen CA397848051, ClinVar RCV000772948, ClinVar RCV002290017, REVEL 0.46, ESM-1b 0.05, Conflicting interpretations, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndr
- P34S (p.Pro34Ser), rs786201968, ClinGen CA397848062, ClinVar RCV001204709, ClinVar RCV002436787, ESM-1b 0.00, AlphaMissense 0.06, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- P34T (p.Pro34Thr), rs786201968, ClinGen CA000011, cosmic curated COSV10608, ClinVar RCV000164526, REVEL 0.43, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; not provided
- L35* (p.Leu35Ter), cosmic curated COSV52728
- L35C (p.Leu35Cys), rs2543636972, ClinGen CA497718920, ClinVar RCV002401110, NCI-TCGA Cosmic COSV5283, Pathogenic, in sporadic cancers
- L35F (p.Leu35Phe), rs121912661, ClinGen CA000025, cosmic curated COSV53176, ClinVar RCV000013170, REVEL 0.49, ESM-1b 0.00, Likely benign, Li-Fraumeni syndrome
- L35M (p.Leu35Met), rs1060501211, ClinGen CA16615715, ClinVar RCV000470404, ClinVar RCV000572574, REVEL 0.45, ESM-1b 0.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- L35P (p.Leu35Pro), NCI-TCGA Cosmic COSV5335, NCI-TCGA Cosmic COSV9947, Uncertain significance, Li-Fraumeni syndrome
- P36A (p.Pro36Ala), Ensembl rs730881993, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, in a sporadic cancer
- P36L (p.Pro36Leu), rs587781866, ClinGen CA003257, cosmic curated COSV53085, ClinVar RCV001009836, REVEL 0.54, ESM-1b 0.00, Uncertain significance, Li-Fraumeni syndrome
- P36Q (p.Pro36Gln), rs587781866, ClinGen CA000031, ClinVar RCV000130183, ClinVar RCV000213046, ESM-1b 0.00, AlphaMissense 0.07, Benign, Li-Fraumeni syndrome
- P36R (p.Pro36Arg), ExAC rs587781866, TOPMed rs587781866, gnomAD rs587781866, ESM-1b 0.21, AlphaMissense 0.10, Benign, in a sporadic cancer
- P36S (p.Pro36Ser), rs730881993, ClinGen CA000026, cosmic curated COSV53085, ClinVar RCV000161017, ESM-1b 0.00, AlphaMissense 0.07, Likely benign, Hereditary cancer-predisposing syndrome
- P36T (p.Pro36Thr), Ensembl rs730881993, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Li-Fraumeni syndrome
- P36W (p.Pro36Trp), NCI-TCGA Cosmic COSV5325, MetaLR 0.80, MetaSVM 0.47, Variant assessed as somatic; high impact., in a sporadic cancer
- S37A (p.Ser37Ala), Ensembl rs2151043578, ESM-1b 0.00, AlphaMissense 0.07
- S37C (p.Ser37Cys), rs1567557177, ClinGen CA397847977, ClinVar RCV002428911, ClinVar RCV005098248, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- S37F (p.Ser37Phe), rs1567557177, ClinGen CA397847974, ClinVar RCV000688189, ClinVar RCV004026290, ESM-1b 0.00, AlphaMissense 0.09, Conflicting interpretations, Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Adrenocortical ca
- S37P (p.Ser37Pro), Ensembl rs2151043578, NCI-TCGA Cosmic COSV5275, UniProt VAR 044558, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, in a sporadic cancer
- S37T (p.Ser37Thr), cosmic curated COSV53636, Ensembl rs2151043578, UniProt VAR 044559, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, in a sporadic cancer
Public TP53 analysis runs
- TP53 analysis run — TP53 (2,743 variants) — completed 2026-05-15