G20E (p.Gly20Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
G20E (p.Gly20Glu) 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 not provided; PTEN hamartoma tumor syndrome. The record also includes experimental measurements, published literature, and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- rs1064795967
- ClinGen CA16619043
- ClinVar RCV000482456
- ClinVar RCV004806366
- Uncertain significance
- not provided; PTEN hamartoma tumor syndrome
- Missense
- ClinVar: Uncertain significance (not provided; PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.872
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)