S241F (p.Ser241Phe) variant of TP53 (Cellular tumor antigen p53)
S241F (p.Ser241Phe) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Li-Fraumeni syndrome 1; Familial cancer of breast; Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
S241F (p.Ser241Phe) variant details
- p.Ser241Phe
- rs28934573
- cosmic curated COSV52761
- ClinGen CA000359
- NCI-TCGA Cosmic COSV5266
- Pathogenic/Likely pathogenic
- Li-Fraumeni syndrome 1; Familial cancer of breast; Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Li-Fraumeni syndrome 1; Familial cancer of breast; Colorectal ca)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. (PMID 1565143)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)