S20P (p.Ser20Pro) variant of TP53 (Cellular tumor antigen p53)
S20P (p.Ser20Pro) 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 Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- rs876659913
- ClinGen CA10580963
- ClinVar RCV000219749
- ClinVar RCV005090110
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- p53 variant effect measured by cell growth: score -2.78
- 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)