P177S (p.Pro177Ser) variant of TP53 (Cellular tumor antigen p53)
P177S (p.Pro177Ser) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P177S (p.Pro177Ser) variant details
- p.Pro177Ser
- rs147002414
- ClinGen CA287488531
- NCI-TCGA Cosmic COSV5268
- cosmic curated COSV52688
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.93
- CADD 27.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance (in sporadic cancers)
- UniProt: Uncertain significance (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 1.06
- 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)