E39K (p.Glu39Lys) variant of PIK3CA (P42336)
E39K (p.Glu39Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of PIK3CA related overgrowth syndrome. The record also includes structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- NCI-TCGA Cosmic COSV5590
- cosmic curated COSV55904
- Likely pathogenic
- PIK3CA related overgrowth syndrome
- Missense
- ClinVar: Likely pathogenic (PIK3CA related overgrowth syndrome)
- UniProt: Likely pathogenic
- Structural context available