E81K (p.Glu81Lys) variant of PIK3CA (P42336)
E81K (p.Glu81Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; PIK3CA related overgrowth syndrome; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- rs1057519929
- ClinGen CA16602912
- cosmic curated COSV55873
- ClinVar RCV001327958
- Pathogenic
- not provided; PIK3CA related overgrowth syndrome; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.84
- MetaLR 0.67
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Pathogenic (not provided; PIK3CA related overgrowth syndrome; Cowden syndrom)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- 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: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)