G127R (p.Gly127Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
G127R (p.Gly127Arg) 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 likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G127R (p.Gly127Arg) variant details
- p.Gly127Arg
- rs587781255
- ClinGen CA000426
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cowden syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.0719
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)