S9N (p.Ser9Asn) variant of TP53 (Cellular tumor antigen p53)
S9N (p.Ser9Asn) 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 Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1555527015
- ClinGen CA397849248
- ClinVar RCV000534258
- ClinVar RCV004787847
- Conflicting interpretations
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.09
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- p53 variant effect measured by cell growth: score -1.5
- 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)