M237I (p.Met237Ile) variant of TP53 (Cellular tumor antigen p53)
M237I (p.Met237Ile) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Li-Fraumeni syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
M237I (p.Met237Ile) variant details
- p.Met237Ile
- rs587782664
- ClinGen CA287488027
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5268
- Pathogenic/Likely pathogenic
- Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3. (PMID 27657329)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)