R15G (p.Arg15Gly) variant of PTEN (P60484)
R15G (p.Arg15Gly) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes experimental measurements, published literature, and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs2132145750
- ClinGen CA377781928
- ClinVar RCV003300938
- Ensembl rs2132145750
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.65
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)