K13* (p.Lys13Ter) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
K13* (p.Lys13Ter) 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, published literature, and structural context.
K13* (p.Lys13Ter) variant details
- p.Lys13Ter
- rs1554890348
- ClinGen CA377781906
- ClinVar RCV000548728
- ClinVar RCV001809480
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.864
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)