S10* (p.Ser10Ter) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
S10* (p.Ser10Ter) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10* (p.Ser10Ter) variant details
- p.Ser10Ter
- gnomAD 10-87864020-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 15.70
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574
- Literature evidence available