A138P (p.Ala138Pro) variant of TP53 (Cellular tumor antigen p53)
A138P (p.Ala138Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes experimental measurements, published literature, and structural context.
A138P (p.Ala138Pro) variant details
- p.Ala138Pro
- rs28934875
- ClinGen CA000166
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52661
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Structural context available
- p53 variant effect measured by cell growth: score -0.0247
- Cited in: Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of… (PMID 9569035)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)