T131A (p.Thr131Ala) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
T131A (p.Thr131Ala) 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 Prostate cancer, hereditary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T131A (p.Thr131Ala) variant details
- p.Thr131Ala
- rs2493717822
- ClinGen CA2697558583
- ClinVar RCV003484296
- Uncertain significance
- Prostate cancer, hereditary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.98
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Prostate cancer, hereditary, 1)
- EBI: Variant of uncertain significance (in MCEPHAS)
- UniProt: Uncertain significance (in MCEPHAS)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.953
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Molecular Biomarkers in Localized Prostate Cancer: ASCO Guideline. (PMID 31829902)