P13S (p.Pro13Ser) variant of TP53 (Cellular tumor antigen p53)
P13S (p.Pro13Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- rs1060501208
- ClinGen CA16616008
- cosmic curated COSV53056
- ClinVar RCV000468196
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.99
- MetaSVM 0.98
- CADD 23.70
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- p53 variant effect measured by cell growth: score -2.63
- 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)