N12K (p.Asn12Lys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
N12K (p.Asn12Lys) 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.
N12K (p.Asn12Lys) variant details
- p.Asn12Lys
- rs587781957
- ClinGen CA000420
- ClinVar RCV000130333
- Ensembl rs587781957
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Combined: score 0.435
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)