S33F (p.Ser33Phe) variant of TP53 (Cellular tumor antigen p53)
S33F (p.Ser33Phe) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes experimental measurements, published literature, and structural context.
S33F (p.Ser33Phe) variant details
- p.Ser33Phe
- rs1555526832
- ClinGen CA397848069
- cosmic curated COSV53332
- ClinVar RCV000804893
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.91
- MetaSVM 0.90
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni 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 0.715
- 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)