F90L (p.Phe90Leu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
F90L (p.Phe90Leu) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Familial cancer of breast. The record also includes experimental measurements and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- Ensembl rs2132242110
- Likely pathogenic
- Familial cancer of breast
- Missense
- ClinVar: Likely pathogenic (Familial cancer of breast)
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.815