S20L (p.Ser20Leu) variant of TP53 (Cellular tumor antigen p53)
S20L (p.Ser20Leu) 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 1; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes experimental measurements, published literature, and structural context.
S20L (p.Ser20Leu) variant details
- p.Ser20Leu
- rs1597376439
- ClinGen CA397848775
- cosmic curated COSV53226
- ClinVar RCV001024777
- Uncertain significance
- Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)