E3Q (p.Glu3Gln) variant of TP53 (Cellular tumor antigen p53)
E3Q (p.Glu3Gln) 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 not specified; Lung adenocarcinoma; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements, published literature, and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- rs2073524362
- ClinGen CA397849493
- ClinVar RCV001068360
- ClinVar RCV002282452
- Uncertain significance
- not specified; Lung adenocarcinoma; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Lung adenocarcinoma; Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score 0.866
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)