I156V (p.Ile156Val) variant of DRD2 (D(2) dopamine receptor)
I156V (p.Ile156Val) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I156V (p.Ile156Val) variant details
- p.Ile156Val
- TOPMed rs1288496056
- gnomAD rs1288496056
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.68
- MetaLR 0.60
- MetaSVM 0.32
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available