G11R (p.Gly11Arg) variant of DRD4 (D(4) dopamine receptor)
G11R (p.Gly11Arg) in DRD4 (D(4) dopamine receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs189482961
- 1000Genomes rs189482961
- ExAC rs189482961
- TOPMed rs189482961
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.05
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.05
- CADD 3.84
- PolyPhen-2 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BASQUE population (allele frequency 0.048)
- Structural context available