P34S (p.Pro34Ser) variant of TP53 (Cellular tumor antigen p53)
P34S (p.Pro34Ser) 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 not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs786201968
- ClinGen CA397848062
- ClinVar RCV001204709
- ClinVar RCV002436787
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Li-Fraume)
- 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 0.619
- 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)