C176R (p.Cys176Arg) variant of TP53 (Cellular tumor antigen p53)
C176R (p.Cys176Arg) 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 Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C176R (p.Cys176Arg) variant details
- p.Cys176Arg
- rs1567552847
- ClinGen CA913191047
- ClinVar RCV000785487
- Ensembl rs1567552847
- Likely pathogenic
- Ovarian neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.81
- CADD 29.50
- ClinVar: Likely pathogenic (Ovarian neoplasm)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score -2.44
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)