I8F (p.Ile8Phe) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
I8F (p.Ile8Phe) 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, published literature, and structural context.
I8F (p.Ile8Phe) variant details
- p.Ile8Phe
- rs2132145527
- ClinGen CA377781844
- ClinVar RCV004525219
- Ensembl rs2132145527
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)