G24R (p.Gly24Arg) variant of DRD2 (D(2) dopamine receptor)
G24R (p.Gly24Arg) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dystonic disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- rs747312255
- ClinGen CA6281500
- ClinVar RCV001950226
- ClinVar RCV003992584
- Conflicting interpretations
- Dystonic disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -0.97
- CADD 22.60
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Dystonic disorder; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)