G245V (p.Gly245Val) variant of TP53 (Cellular tumor antigen p53)
G245V (p.Gly245Val) 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 Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G245V (p.Gly245Val) variant details
- p.Gly245Val
- rs121912656
- cosmic curated COSV53649
- ClinGen CA001743
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- CADD 26.40
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; Adrenocor)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Frequent mutation of the p53 gene in human esophageal cancer. (PMID 2263646)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)