R342P (p.Arg342Pro) variant of TP53 (Cellular tumor antigen p53)
R342P (p.Arg342Pro) 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 0.56 / 1. The record also includes published literature and structural context.
R342P (p.Arg342Pro) variant details
- p.Arg342Pro
- rs375338359
- ClinGen CA337802
- NCI-TCGA Cosmic COSV5269
- cosmic curated COSV52690
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.57
- MetaSVM -0.47
- PolyPhen-2 0.00
- SIFT 0.32
- 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)