W274G (p.Trp274Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
W274G (p.Trp274Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W274G (p.Trp274Gly) variant details
- p.Trp274Gly
- rs1589665591
- ClinGen CA377485484
- ClinVar RCV003509375
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.522
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)