K13N (p.Lys13Asn) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
K13N (p.Lys13Asn) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- rs2132145687
- Ensembl rs2132145687
- ClinGen CA377781912
- ClinVar RCV002357791
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.67
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- PTEN VAMP-seq Combined: score 0.864
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)