G245S (p.Gly245Ser) variant of TP53 (Cellular tumor antigen p53)
G245S (p.Gly245Ser) 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. 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.
G245S (p.Gly245Ser) variant details
- p.Gly245Ser
- rs28934575
- ClinGen CA000367
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- CADD 27.50
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. (PMID 1565143)
- Cited in: Germline mutations in the TP53 gene. (PMID 8718514)