R150L (p.Arg150Leu) variant of DRD2 (D(2) dopamine receptor)
R150L (p.Arg150Leu) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R150L (p.Arg150Leu) variant details
- p.Arg150Leu
- 1000Genomes rs199517364
- ExAC rs199517364
- TOPMed rs199517364
- gnomAD rs199517364
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.51
- MetaLR 0.34
- MetaSVM -0.25
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available