E7* (p.Glu7Ter) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
E7* (p.Glu7Ter) 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 variant effect predictions, experimental measurements, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- rs1554890335
- ClinGen CA377781832
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic
- Stop Gained
- MutPred 0.35
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.577
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)