E545A (p.Glu545Ala) variant of PIK3CA (P42336)
E545A (p.Glu545Ala) 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; Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E545A (p.Glu545Ala) variant details
- p.Glu545Ala
- rs121913274
- ClinGen CA123342
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55873
- Pathogenic
- PIK3CA related overgrowth syndrome; Ovarian neoplasm
- 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 (Cowden syndrome 5)
- EBI: Pathogenic (in CWS5 and HCC)
- UniProt: Pathogenic (in CWS5 and HCC)
- Structural context available
- Cited in: PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. (PMID 15608678)
- Cited in: PIK3CA mutations in glioblastoma multiforme. (PMID 15924253)