E542Q (p.Glu542Gln) variant of PIK3CA (P42336)
E542Q (p.Glu542Gln) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
E542Q (p.Glu542Gln) variant details
- p.Glu542Gln
- rs121913273
- ClinGen CA16602697
- NCI-TCGA Cosmic COSV5587
- NCI-TCGA Cosmic COSV5589
- Pathogenic
- Ovarian neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.94
- MetaLR 0.31
- MetaSVM -0.73
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.49
- ClinVar: Pathogenic (Ovarian neoplasm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. (PMID 16322209)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)