R16C (p.Arg16Cys) variant of DRD4 (D(4) dopamine receptor)
R16C (p.Arg16Cys) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- TOPMed rs1589956563
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- AlphaMissense 0.40
- MetaLR 0.12
- MetaSVM -1.01
- CADD 19.30
- PolyPhen-2 0.19
- Most common in the Middle Eastern population (allele frequency 0.00032)
- Structural context available