I195T (p.Ile195Thr) variant of TP53 (Cellular tumor antigen p53)
I195T (p.Ile195Thr) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast; Li-Fraumeni. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I195T (p.Ile195Thr) variant details
- p.Ile195Thr
- rs760043106
- ClinGen CA002232
- NCI-TCGA Cosmic COSV5266
- Pathogenic
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; Li-Fraumeni
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.06
- CADD 27.60
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. (PMID 17224074)
- Cited in: Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample. (PMID 9450901)