S10L (p.Ser10Leu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
S10L (p.Ser10Leu) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- gnomAD 10-87864007-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 15.10
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574
- Literature evidence available