I4T (p.Ile4Thr) variant of PTEN (P60484)
I4T (p.Ile4Thr) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes experimental measurements, published literature, and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- rs1858394571
- ClinGen CA377781795
- ClinVar RCV001914392
- ClinVar RCV004044069
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- ESM-1b 0.99
- AlphaMissense 0.47
- MetaLR 0.65
- MetaSVM 0.05
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)