L344R (p.Leu344Arg) variant of TP53 (Cellular tumor antigen p53)
L344R (p.Leu344Arg) 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 0.94 / 1. The record also includes published literature and structural context.
L344R (p.Leu344Arg) variant details
- p.Leu344Arg
- rs121912662
- ClinGen CA397832502
- ClinVar RCV003510098
- ClinVar RCV004950464
- Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in a sporadic cancer)
- UniProt: Likely pathogenic (in a sporadic cancer)
- Structural context available
- 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)