R159G (p.Arg159Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R159G (p.Arg159Gly) 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 Cowden syndrome; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
R159G (p.Arg159Gly) variant details
- p.Arg159Gly
- rs786202688
- ClinGen CA000161
- NCI-TCGA Cosmic COSV6430
- ClinVar RCV000165624
- Pathogenic/Likely pathogenic
- Cowden syndrome; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome; Hereditary cancer-predisposing syndrome; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.03
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)