K13E (p.Lys13Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
K13E (p.Lys13Glu) 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 record also includes experimental measurements, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs1554890348
- ClinGen CA377781904
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Cowden syndrome; Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome; Hereditary cancer-predisposing syndrome; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.864
- 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)