P151L (p.Pro151Leu) variant of TP53 (Cellular tumor antigen p53)
P151L (p.Pro151Leu) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Li-Fraumeni syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes experimental measurements and structural context.
P151L (p.Pro151Leu) variant details
- p.Pro151Leu
- cosmic curated COSV53682
- NCI-TCGA Cosmic COSV5267
- NCI-TCGA Cosmic COSV5270
- NCI-TCGA Cosmic COSV5281
- Likely pathogenic
- Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- ESM-1b 1.00
- AlphaMissense 0.55
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome 1)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score -2.3