F909L (p.Phe909Leu) variant of PIK3CA (P42336)
F909L (p.Phe909Leu) 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. The record also includes structural context.
F909L (p.Phe909Leu) variant details
- p.Phe909Leu
- cosmic curated COSV55882
- Ensembl rs2108424205
- Pathogenic
- PIK3CA related overgrowth syndrome
- Missense
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available