R337S (p.Arg337Ser) variant of TP53 (Cellular tumor antigen p53)
R337S (p.Arg337Ser) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R337S (p.Arg337Ser) variant details
- p.Arg337Ser
- rs587782529
- ClinGen CA397832787
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5271
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 1.64
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)