K128E (p.Lys128Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
K128E (p.Lys128Glu) 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 likely pathogenic in the context of Glioma susceptibility 2; Hereditary cancer-predisposing syndrome; PTEN hamartoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
K128E (p.Lys128Glu) variant details
- p.Lys128Glu
- rs1554898138
- ClinGen CA377482308
- NCI-TCGA Cosmic COSV6429
- Likely pathogenic
- Glioma susceptibility 2; Hereditary cancer-predisposing syndrome; PTEN hamartoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Glioma susceptibility 2; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.46
- 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)