G266E (p.Gly266Glu) variant of TP53 (Cellular tumor antigen p53)
G266E (p.Gly266Glu) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Squamous cell carcinoma of the head and neck; Hereditary cancer-predisposing syn. 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.
G266E (p.Gly266Glu) variant details
- p.Gly266Glu
- rs193920774
- ClinGen CA000421
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52664
- Pathogenic/Likely pathogenic
- Squamous cell carcinoma of the head and neck; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- CADD 28.20
- ClinVar: Pathogenic/Likely pathogenic (Squamous cell carcinoma of the head and neck; Hereditary cancer-)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- 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)