I4F (p.Ile4Phe) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
I4F (p.Ile4Phe) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes experimental measurements and structural context.
I4F (p.Ile4Phe) variant details
- p.Ile4Phe
- Ensembl rs1647701808
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65