E18* (p.Glu18Ter) variant of PTEN (P60484)
E18* (p.Glu18Ter) in PTEN (P60484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- Ensembl rs1554890385
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.48