G334R (p.Gly334Arg) variant of TP53 (Cellular tumor antigen p53)
G334R (p.Gly334Arg) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G334R (p.Gly334Arg) variant details
- p.Gly334Arg
- rs730882028
- ClinGen CA000007
- ClinVar RCV000161073
- ClinVar RCV000468644
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.90
- CADD 25.20
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in a sporadic cancer)
- UniProt: Likely pathogenic (in a sporadic cancer)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)