P36S (p.Pro36Ser) variant of TP53 (Cellular tumor antigen p53)
P36S (p.Pro36Ser) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes experimental measurements, published literature, and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs730881993
- ClinGen CA000026
- cosmic curated COSV53085
- ClinVar RCV000161017
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.78
- MetaSVM 0.69
- PolyPhen-2 0.13
- SIFT 0.34
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -3.65
- 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)