E726K (p.Glu726Lys) variant of PIK3CA (P42336)
E726K (p.Glu726Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
E726K (p.Glu726Lys) variant details
- p.Glu726Lys
- rs867262025
- ClinGen CA16602910
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55875
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.65
- MetaLR 0.36
- MetaSVM -0.46
- PolyPhen-2 0.87
- SIFT 0.81
- MutPred 0.34
- ClinVar: Pathogenic (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Structural context available
- Cited in: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly… (PMID 22729224)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)