T125S (p.Thr125Ser) variant of TP53 (Cellular tumor antigen p53)
T125S (p.Thr125Ser) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of in sporadic cancers. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements and structural context.
T125S (p.Thr125Ser) variant details
- p.Thr125Ser
- Ensembl rs1057520003
- Conflicting interpretations
- in sporadic cancers
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.95
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; n)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score 0.501