S9R (p.Ser9Arg) variant of TP53 (Cellular tumor antigen p53)
S9R (p.Ser9Arg) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- rs757282628
- ClinGen CA003949
- ClinVar RCV000587100
- ClinVar RCV001016639
- Uncertain significance
- Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 17.80
- PolyPhen-2 0.76
- SIFT 0.07
- ClinVar: Uncertain significance (Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- p53 variant effect measured by cell growth: score -1.5
- 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 Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)