E545D (p.Glu545Asp) variant of PIK3CA (P42336)
E545D (p.Glu545Asp) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cowden syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
E545D (p.Glu545Asp) variant details
- p.Glu545Asp
- rs121913275
- ClinGen CA210104
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55874
- Pathogenic
- Cowden syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.87
- MetaLR 0.27
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.24
- ClinVar: Pathogenic (Cowden syndrome; Megalencephaly-capillary malformation-polymicro)
- EBI: Pathogenic (in MCAP, KERSEB, CRC, BC and HFMH)
- UniProt: Pathogenic (in MCAP, KERSEB, CRC, BC and HFMH)
- Structural context available
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)