S33Y (p.Ser33Tyr) variant of TP53 (Cellular tumor antigen p53)
S33Y (p.Ser33Tyr) 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 1; Li-Fraumeni syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S33Y (p.Ser33Tyr) variant details
- p.Ser33Tyr
- rs1555526832
- ClinGen CA397848079
- ClinVar RCV000561224
- ClinVar RCV000819381
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.91
- MetaSVM 0.90
- CADD 10.70
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- EBI: Likely benign (in a sporadic cancer)
- UniProt: Likely benign (in a sporadic cancer)
- Population evidence available
- 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)