A276P (p.Ala276Pro) variant of TP53 (Cellular tumor antigen p53)
A276P (p.Ala276Pro) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A276P (p.Ala276Pro) variant details
- p.Ala276Pro
- rs1131691029
- ClinGen CA397836931
- NCI-TCGA Cosmic COSV5273
- cosmic curated COSV52731
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.94
- CADD 27.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Adrenocortical carcinom)
- 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)