T125M (p.Thr125Met) variant of TP53 (Cellular tumor antigen p53)
T125M (p.Thr125Met) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial pancreatic carcinoma; Li-Fraumeni syndrome 1; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T125M (p.Thr125Met) variant details
- p.Thr125Met
- rs786201057
- ClinGen CA000140
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5267
- Conflicting interpretations
- Familial pancreatic carcinoma; Li-Fraumeni syndrome 1; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.95
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Familial pancreatic carcinoma; Li-Fraumeni syndrome 1; Hereditar)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- p53 variant effect measured by cell growth: score 0.501
- Cited in: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. (PMID 25645574)
- Cited in: Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the… (PMID 31672839)