D162E (p.Asp162Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D162E (p.Asp162Glu) 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 Cowden syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes experimental measurements, published literature, and structural context.
D162E (p.Asp162Glu) variant details
- p.Asp162Glu
- rs869312777
- ClinGen CA357794
- ClinVar RCV000210132
- ClinVar RCV002253291
- Likely pathogenic
- Cowden syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.87
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Cowden syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.177
- 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)