R11L (p.Arg11Leu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R11L (p.Arg11Leu) 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 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD 10-87863956-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 19.80
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.791
- Literature evidence available