E7E (p.Glu7Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
E7E (p.Glu7Glu) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7E (p.Glu7Glu) variant details
- p.Glu7Glu
- gnomAD 10-87863955-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 20.80
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- Literature evidence available