Q17R (p.Gln17Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Q17R (p.Gln17Arg) 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 record also includes variant effect predictions, population frequency data, experimental measurements, published literature, and structural context.
Q17R (p.Gln17Arg) variant details
- p.Gln17Arg
- rs1858398407
- ClinGen CA377781951
- ClinVar RCV001219200
- Ensembl rs1858398407
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- MutPred 0.43
- 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 0.968
- 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)