P190L (p.Pro190Leu) variant of TP53 (Cellular tumor antigen p53)
P190L (p.Pro190Leu) 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 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P190L (p.Pro190Leu) variant details
- p.Pro190Leu
- rs876660825
- ClinGen CA16620625
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52664
- Likely pathogenic
- Li-Fraumeni syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 27.80
- PolyPhen-2 0.47
- SIFT 0.05
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome 1)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- p53 variant effect measured by cell growth: score 0.202
- 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 Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)