R337C (p.Arg337Cys) variant of TP53 (Cellular tumor antigen p53)
R337C (p.Arg337Cys) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R337C (p.Arg337Cys) variant details
- p.Arg337Cys
- rs587782529
- ClinGen CA000010
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52669
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 20.50
- PolyPhen-2 0.34
- SIFT 0.09
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Population evidence available
- 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 germline missense mutation R337C in exon 10 of the human p53 gene. (PMID 9452042)