R20Q (p.Arg20Gln) variant of DRD2 (D(2) dopamine receptor)
R20Q (p.Arg20Gln) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- cosmic curated COSV10886
- ExAC rs199932425
- TOPMed rs199932425
- gnomAD rs199932425
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.06
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available