K6* (p.Lys6Ter) variant of PTEN (P60484)
K6* (p.Lys6Ter) 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.
K6* (p.Lys6Ter) variant details
- p.Lys6Ter
- Ensembl rs1589596143
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.24