R337P (p.Arg337Pro) variant of TP53 (Cellular tumor antigen p53)
R337P (p.Arg337Pro) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R337P (p.Arg337Pro) variant details
- p.Arg337Pro
- rs121912664
- ClinGen CA000014
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5269
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 9.91
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Non-Finnish European population (allele frequency 3.9e-06)
- Structural context available
- Cited in: Phase separation of p53 induced by its unstructured basic region and prevented by oncogenic mutations in… (PMID 36108750)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)