E453K (p.Glu453Lys) variant of PIK3CA (P42336)
E453K (p.Glu453Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA-related disorder; PIK3CA related overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
E453K (p.Glu453Lys) variant details
- p.Glu453Lys
- rs1057519925
- ClinGen CA16602904
- cosmic curated COSV55874
- ClinVar RCV000785580
- Pathogenic
- PIK3CA-related disorder; PIK3CA related overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.75
- MetaLR 0.34
- MetaSVM -0.58
- PolyPhen-2 0.36
- SIFT 0.19
- EVE 0.26
- ClinVar: Pathogenic (PIK3CA-related disorder; PIK3CA related overgrowth syndrome; not)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)