D19V (p.Asp19Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D19V (p.Asp19Val) 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 in the context of PTEN hamartoma tumor syndrome. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
D19V (p.Asp19Val) variant details
- p.Asp19Val
- rs1554890392
- ClinGen CA377781983
- ClinVar RCV002815672
- ClinVar RCV005233024
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- MutPred 0.47
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in malignant melanoma)
- UniProt: Pathogenic (in malignant melanoma)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)