E3G (p.Glu3Gly) variant of TP53 (Cellular tumor antigen p53)
E3G (p.Glu3Gly) 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 Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- rs786203938
- ClinGen CA000486
- cosmic curated COSV53377
- ClinVar RCV000167456
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 24.50
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; L)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- p53 variant effect measured by cell growth: score 0.866
- 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)