R267G (p.Arg267Gly) variant of TP53 (Cellular tumor antigen p53)
R267G (p.Arg267Gly) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R267G (p.Arg267Gly) variant details
- p.Arg267Gly
- rs55832599
- ClinGen CA397837125
- NCI-TCGA Cosmic COSV5267
- NCI-TCGA Cosmic COSV5273
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- 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)