E7Q (p.Glu7Gln) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
E7Q (p.Glu7Gln) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- Ensembl rs1554890335
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.577