E545G (p.Glu545Gly) variant of PIK3CA (P42336)
E545G (p.Glu545Gly) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA related overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E545G (p.Glu545Gly) variant details
- p.Glu545Gly
- rs121913274
- ClinGen CA123336
- NCI-TCGA Cosmic COSV5587
- Pathogenic
- PIK3CA related overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.96
- MetaLR 0.37
- MetaSVM -0.30
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome)
- EBI: Pathogenic (in KERSEB)
- UniProt: Pathogenic (in KERSEB)
- Structural context available
- Cited in: Mutation of the PIK3CA gene in ovarian and breast cancer. (PMID 15520168)
- Cited in: The prevalence of PIK3CA mutations in gastric and colon cancer. (PMID 15994075)