A64V (p.Ala64Val) variant of DRD2 (D(2) dopamine receptor)
A64V (p.Ala64Val) 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 not specified; Dystonic disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- rs201137518
- ClinGen CA6281471
- cosmic curated COSV60755
- ClinVar RCV000862937
- Conflicting interpretations
- not specified; Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.56
- MetaLR 0.64
- MetaSVM 0.46
- CADD 28.60
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Dystonic disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)