V216M (p.Val216Met) variant of TP53 (Cellular tumor antigen p53)
V216M (p.Val216Met) 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 Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
V216M (p.Val216Met) variant details
- p.Val216Met
- rs730882025
- ClinGen CA000308
- NCI-TCGA Cosmic COSV5267
- cosmic curated COSV52671
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Adrenocor)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. (PMID 17224074)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)