V154I (p.Val154Ile) variant of DRD2 (D(2) dopamine receptor)
V154I (p.Val154Ile) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V154I (p.Val154Ile) variant details
- p.Val154Ile
- rs104894220
- ClinGen CA257621
- cosmic curated COSV60754
- ClinVar RCV000018259
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.32
- MetaLR 0.45
- MetaSVM -0.32
- CADD 23.50
- PolyPhen-2 0.77
- SIFT 0.16
- ClinVar: Uncertain significance (Dystonic disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (PMID 10220438)
- Cited in: Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. (PMID 10716258)