I254T (p.Ile254Thr) variant of TP53 (Cellular tumor antigen p53)
I254T (p.Ile254Thr) 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 Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
I254T (p.Ile254Thr) variant details
- p.Ile254Thr
- cosmic curated COSV52767
- UniProt VAR 017909
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance (in sporadic cancers)
- UniProt: Uncertain significance (in sporadic cancers)
- Structural context available