E365K (p.Glu365Lys) variant of PIK3CA (P42336)
E365K (p.Glu365Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA related overgrowth syndrome; Angioosteohypertrophic syndrome; Cowden synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E365K (p.Glu365Lys) variant details
- p.Glu365Lys
- rs1064793732
- ClinGen CA16617848
- NCI-TCGA Cosmic COSV5588
- cosmic curated COSV55881
- Pathogenic
- PIK3CA related overgrowth syndrome; Angioosteohypertrophic syndrome; Cowden synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.48
- CADD 25.20
- PolyPhen-2 0.28
- SIFT 0.05
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome; Angioosteohypertrophic syndr)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Population evidence available
- 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)