W274C (p.Trp274Cys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
W274C (p.Trp274Cys) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W274C (p.Trp274Cys) variant details
- p.Trp274Cys
- rs587782607
- ClinGen CA377485494
- ClinVar RCV002412525
- Ensembl rs587782607
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.522
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)