Y16* (p.Tyr16Ter) variant of PTEN (P60484)
Y16* (p.Tyr16Ter) in PTEN (P60484) 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.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- rs876661009
- ClinGen CA10577413
- ClinVar RCV000221548
- ClinVar RCV003454663
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.13
- 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)