R145H (p.Arg145His) variant of DRD2 (D(2) dopamine receptor)
R145H (p.Arg145His) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar 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 0.65 / 1. The record also includes population frequency data and structural context.
R145H (p.Arg145His) variant details
- p.Arg145His
- cosmic curated COSV60754
- ExAC rs200486137
- TOPMed rs200486137
- gnomAD rs200486137
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.64
- MetaLR 0.51
- MetaSVM -0.02
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Dystonic disorder)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available