I4V (p.Ile4Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
I4V (p.Ile4Val) 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 PTEN hamartoma tumor syndrome. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- rs1647701808
- ClinGen CA377781789
- ClinVar RCV002281488
- ClinVar RCV002295377
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- MutPred 0.34
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)