L344P (p.Leu344Pro) variant of TP53 (Cellular tumor antigen p53)
L344P (p.Leu344Pro) 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 Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L344P (p.Leu344Pro) variant details
- p.Leu344Pro
- rs121912662
- ClinGen CA000021
- cosmic curated COSV52687
- ClinVar RCV000013174
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.05
- CADD 29.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. (PMID 10486318)
- Cited in: Phase separation of p53 induced by its unstructured basic region and prevented by oncogenic mutations in… (PMID 36108750)