R47G (p.Arg47Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R47G (p.Arg47Gly) 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 in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
R47G (p.Arg47Gly) variant details
- p.Arg47Gly
- rs786204855
- ClinGen CA000322
- ClinVar RCV000645054
- ClinVar RCV001011384
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.25
- Cited in: Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid… (PMID 11494117)
- Cited in: Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. (PMID 10051160)