E36V (p.Glu36Val) variant of PDGFRA (P16234)
E36V (p.Glu36Val) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The record also includes published literature and structural context.
E36V (p.Glu36Val) variant details
- p.Glu36Val
- rs2475421481
- ClinGen CA356888260
- ClinVar RCV002424232
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)