P4Q (p.Pro4Gln) variant of TP53 (Cellular tumor antigen p53)
P4Q (p.Pro4Gln) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes experimental measurements, published literature, and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- rs878854064
- ClinGen CA397849437
- ClinVar RCV003177169
- Ensembl rs878854064
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.92
- MetaSVM 0.99
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- p53 variant effect measured by cell growth: score -2.1
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)