I251L (p.Ile251Leu) variant of TP53 (Cellular tumor antigen p53)
I251L (p.Ile251Leu) 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 Gastric cancer; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
I251L (p.Ile251Leu) variant details
- p.Ile251Leu
- rs730882007
- ClinGen CA000394
- cosmic curated COSV52702
- ClinVar RCV000161037
- Pathogenic/Likely pathogenic
- Gastric cancer; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.98
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gastric cancer; Hereditary cancer-predisposing syndrome; not pro)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- 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 Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)