S240R (p.Ser240Arg) variant of TP53 (Cellular tumor antigen p53)
S240R (p.Ser240Arg) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S240R (p.Ser240Arg) variant details
- p.Ser240Arg
- rs764342812
- ClinGen CA397839103
- NCI-TCGA Cosmic COSV5278
- NCI-TCGA Cosmic COSV5279
- Uncertain significance
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in sporadic cancers)
- UniProt: Likely benign (in sporadic cancers)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- 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)