G51S (p.Gly51Ser) variant of DRD2 (D(2) dopamine receptor)
G51S (p.Gly51Ser) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- rs1950919208
- ClinGen CA382655029
- ClinVar RCV001307433
- Ensembl rs1950919208
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.76
- MetaLR 0.47
- MetaSVM 0.14
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Dystonic disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)