V272M (p.Val272Met) variant of TP53 (Cellular tumor antigen p53)
V272M (p.Val272Met) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V272M (p.Val272Met) variant details
- p.Val272Met
- rs121912657
- ClinGen CA000427
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52661
- Pathogenic
- Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.70
- ClinVar: Pathogenic (Li-Fraumeni syndrome 1)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- 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)