D22V (p.Asp22Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D22V (p.Asp22Val) 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 Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
D22V (p.Asp22Val) variant details
- p.Asp22Val
- rs1554890398
- ClinGen CA377782016
- ClinVar RCV004525237
- Ensembl rs1554890398
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.59
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.901
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)