R337L (p.Arg337Leu) variant of TP53 (Cellular tumor antigen p53)
R337L (p.Arg337Leu) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R337L (p.Arg337Leu) variant details
- p.Arg337Leu
- rs121912664
- ClinGen CA000015
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52665
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.35
- ESM-1b 0.54
- AlphaMissense 0.94
- CADD 9.73
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- 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)