G129E (p.Gly129Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
G129E (p.Gly129Glu) 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 Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
G129E (p.Gly129Glu) variant details
- p.Gly129Glu
- rs121909218
- ClinGen CA000431
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden s
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Combined: score 0.71
- Cited in: Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol… (PMID 10051603)
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)