A38V (p.Ala38Val) variant of DRD2 (D(2) dopamine receptor)
A38V (p.Ala38Val) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs767413934
- ClinGen CA6281490
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60762
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.55
- MetaLR 0.17
- MetaSVM -0.83
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonic disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)