S37C (p.Ser37Cys) variant of TP53 (Cellular tumor antigen p53)
S37C (p.Ser37Cys) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes experimental measurements, published literature, and structural context.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- rs1567557177
- ClinGen CA397847977
- ClinVar RCV002428911
- ClinVar RCV005098248
- Uncertain significance
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.90
- MetaSVM 0.83
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in a sporadic cancer)
- UniProt: Likely benign (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -2.01
- 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 Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)