R150H (p.Arg150His) variant of DRD2 (D(2) dopamine receptor)
R150H (p.Arg150His) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R150H (p.Arg150His) variant details
- p.Arg150His
- rs199517364
- ClinGen CA6281385
- cosmic curated COSV10968
- ClinVar RCV003746401
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.54
- MetaLR 0.38
- MetaSVM -0.06
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Dystonic disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)