P8L (p.Pro8Leu) variant of TP53 (Cellular tumor antigen p53)
P8L (p.Pro8Leu) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs876659415
- ClinGen CA10580967
- ClinVar RCV000221732
- Ensembl rs876659415
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.75
- MetaSVM 0.49
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in a sporadic cancer)
- UniProt: Likely benign (in a sporadic cancer)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 0.9
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)