E542K (p.Glu542Lys) variant of PIK3CA (P42336)
E542K (p.Glu542Lys) 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.
E542K (p.Glu542Lys) variant details
- p.Glu542Lys
- rs121913273
- ClinGen CA333572
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55873
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- 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 (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in CLOVE, KERSEB, CRC, BC, CLAPO, MADAC, CCM4 and HFMH)
- UniProt: Pathogenic (in CLOVE, KERSEB, CRC, BC, CLAPO, MADAC, CCM4 and HFMH)
- Structural context available
- Cited in: Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. (PMID 15289301)
- Cited in: Mutations of PIK3CA in gastric adenocarcinoma. (PMID 15784156)