L98R (p.Leu98Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
L98R (p.Leu98Arg) 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; Glioma s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
L98R (p.Leu98Arg) variant details
- p.Leu98Arg
- rs781647403
- ClinGen CA16613006
- ClinVar RCV000467489
- ClinVar RCV003298462
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Glioma s
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.0121
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)