I8F (p.Ile8Phe) variant of PTEN (P60484)
I8F (p.Ile8Phe) in PTEN (P60484) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes 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
- Variant Prioritization Score for Impact Estimate 0.542
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.56
- MetaSVM -0.06
- PolyPhen-2 0.00
- SIFT 0.78
- 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)