E418K (p.Glu418Lys) variant of PIK3CA (P42336)
E418K (p.Glu418Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PIK3CA related overgrowth syndrome; Megalencephaly-capillary malformation-polymi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
E418K (p.Glu418Lys) variant details
- p.Glu418Lys
- rs397517199
- ClinGen CA136365
- NCI-TCGA Cosmic COSV1043
- NCI-TCGA Cosmic COSV5588
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; Megalencephaly-capillary malformation-polymi
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.87
- MetaLR 0.56
- MetaSVM 0.00
- PolyPhen-2 1.00
- SIFT 0.22
- EVE 0.36
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; Megalencephaly-capillary mal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)