L23* (p.Leu23Ter) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
L23* (p.Leu23Ter) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
L23* (p.Leu23Ter) variant details
- p.Leu23Ter
- rs1554890400
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.552