A347D (p.Ala347Asp) variant of TP53 (Cellular tumor antigen p53)
A347D (p.Ala347Asp) 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 0.88 / 1. The record also includes published literature and structural context.
A347D (p.Ala347Asp) variant details
- p.Ala347Asp
- rs397516434
- ClinGen CA000022
- cosmic curated COSV53835
- ClinVar RCV000036529
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Li-Fraumeni 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)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)