E18E (p.Glu18Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
E18E (p.Glu18Glu) 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 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- gnomAD 10-87864018-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 16.00
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.48
- Literature evidence available