V97I (p.Val97Ile) variant of DRD2 (D(2) dopamine receptor)
V97I (p.Val97Ile) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonic disorder. The record also includes published literature and structural context.
V97I (p.Val97Ile) variant details
- p.Val97Ile
- rs2548822711
- ClinGen CA382653434
- ClinVar RCV002811469
- NCI-TCGA TCGA novel
- Uncertain significance
- Dystonic disorder
- Missense
- ClinVar: Uncertain significance (Dystonic disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)