L130P (p.Leu130Pro) variant of TP53 (Cellular tumor antigen p53)
L130P (p.Leu130Pro) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Li-Fraumeni syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
L130P (p.Leu130Pro) variant details
- p.Leu130Pro
- rs1131691013
- ClinGen CA397842949
- NCI-TCGA Cosmic COSV5268
- NCI-TCGA Cosmic COSV5269
- Likely benign
- Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (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 0.406
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)