P177L (p.Pro177Leu) variant of TP53 (Cellular tumor antigen p53)
P177L (p.Pro177Leu) 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 Adrenocortical carcinoma, hereditary; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P177L (p.Pro177Leu) variant details
- p.Pro177Leu
- rs751477326
- cosmic curated COSV52827
- ClinGen CA16615728
- NCI-TCGA Cosmic COSV5266
- Uncertain significance
- Adrenocortical carcinoma, hereditary; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Adrenocortical carcinoma, hereditary; Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)