E545K (p.Glu545Lys) variant of PIK3CA (P42336)
E545K (p.Glu545Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA overgrowth syndrome; PIK3CA-related disorder; Eccrine angiomatous hamarto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E545K (p.Glu545Lys) variant details
- p.Glu545Lys
- rs104886003
- ClinGen CA123334
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55873
- Pathogenic
- PIK3CA overgrowth syndrome; PIK3CA-related disorder; Eccrine angiomatous hamarto
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.99
- MetaLR 0.36
- MetaSVM -0.53
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome)
- EBI: Pathogenic (in MCAP, KERSEB, CRC, BC and HFMH)
- UniProt: Pathogenic (in MCAP, KERSEB, CRC, BC and HFMH)
- Population evidence available
- Structural context available
- Cited in: Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. (PMID 15289301)
- Cited in: Mutation of the PIK3CA gene in ovarian and breast cancer. (PMID 15520168)