V159I (p.Val159Ile) variant of DRD2 (D(2) dopamine receptor)
V159I (p.Val159Ile) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
V159I (p.Val159Ile) variant details
- p.Val159Ile
- cosmic curated COSV10968
- gnomAD rs1280887427
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.62
- MetaLR 0.58
- MetaSVM 0.22
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonic disorder)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available