G334E (p.Gly334Glu) variant of TP53 (Cellular tumor antigen p53)
G334E (p.Gly334Glu) 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; Hereditary cancer-predisposing syndrome; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G334E (p.Gly334Glu) variant details
- p.Gly334Glu
- rs1286563734
- ClinGen CA397832871
- cosmic curated COSV52925
- ClinVar RCV001223535
- Uncertain significance
- Adrenocortical carcinoma, hereditary; Hereditary cancer-predisposing syndrome; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 24.50
- ClinVar: Uncertain significance (Adrenocortical carcinoma, hereditary; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)