R181C (p.Arg181Cys) variant of TP53 (Cellular tumor antigen p53)
R181C (p.Arg181Cys) 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 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R181C (p.Arg181Cys) variant details
- p.Arg181Cys
- rs587782596
- ClinGen CA000257
- NCI-TCGA Cosmic COSV5268
- cosmic curated COSV52689
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.89
- ESM-1b 0.54
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.05
- CADD 24.00
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- p53 variant effect measured by cell growth: score -1.39
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)