V96A (p.Val96Ala) variant of DRD2 (D(2) dopamine receptor)
V96A (p.Val96Ala) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V96A (p.Val96Ala) variant details
- p.Val96Ala
- rs768995013
- ClinGen CA6281436
- ClinVar RCV003746425
- ExAC rs768995013
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.72
- MetaLR 0.59
- MetaSVM 0.30
- CADD 26.70
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonic disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)