R4C (p.Arg4Cys) variant of DRD4 (D(4) dopamine receptor)
R4C (p.Arg4Cys) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- ExAC rs766253519
- TOPMed rs766253519
- gnomAD rs766253519
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.22
- AlphaMissense 0.27
- MetaLR 0.16
- MetaSVM -0.81
- CADD 23.20
- PolyPhen-2 0.55
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available