V197M (p.Val197Met) variant of TP53 (Cellular tumor antigen p53)
V197M (p.Val197Met) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V197M (p.Val197Met) variant details
- p.Val197Met
- rs786204041
- ClinGen CA000285
- NCI-TCGA Cosmic COSV5271
- cosmic curated COSV52711
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.90
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)