G1050S (p.Gly1050Ser) variant of PIK3CA (P42336)
G1050S (p.Gly1050Ser) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PIK3CA constitutional syndrome. The record also includes structural context.
G1050S (p.Gly1050Ser) variant details
- p.Gly1050Ser
- Ensembl rs2108429932
- Likely pathogenic
- PIK3CA constitutional syndrome
- Missense
- ClinVar: Likely pathogenic (PIK3CA constitutional syndrome)
- EBI: uncertain significance
- UniProt: Uncertain significance
- Structural context available