V9I (p.Val9Ile) variant of PTEN (P60484)
V9I (p.Val9Ile) 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 0.79 / 1. The record also includes experimental measurements, published literature, and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- rs1564801672
- ClinGen CA377781860
- ClinVar RCV000777519
- Ensembl rs1564801672
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- ESM-1b 0.48
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.762
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)