E7G (p.Glu7Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
E7G (p.Glu7Gly) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- rs2132142216
- gnomAD 10-87863954-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 21.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7e-06)
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- Literature evidence available