G245D (p.Gly245Asp) variant of TP53 (Cellular tumor antigen p53)
G245D (p.Gly245Asp) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G245D (p.Gly245Asp) variant details
- p.Gly245Asp
- rs121912656
- rs2073251813
- cosmic curated COSV10609
- ClinGen CA000371
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Adrenocortical carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- CADD 26.60
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. (PMID 2259385)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)