G129R (p.Gly129Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
G129R (p.Gly129Arg) 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 pathogenic/likely pathogenic in the context of PTEN-related disorder; Hereditary cancer-predisposing syndrome; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G129R (p.Gly129Arg) variant details
- p.Gly129Arg
- rs786204929
- ClinGen CA377482316
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6430
- Pathogenic/Likely pathogenic
- PTEN-related disorder; Hereditary cancer-predisposing syndrome; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.94
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PTEN-related disorder; Hereditary cancer-predisposing syndrome;)
- EBI: Pathogenic (in glioblastoma)
- UniProt: Pathogenic (in glioblastoma)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.71
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. (PMID 9072974)