K13* (p.Lys13Ter) variant of PTEN (P60484)
K13* (p.Lys13Ter) in PTEN (P60484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. 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
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 0.88
- SIFT 0.01
- EVE 0.67
- 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)