C126Y (p.Cys126Tyr) variant of DRD2 (D(2) dopamine receptor)
C126Y (p.Cys126Tyr) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C126Y (p.Cys126Tyr) variant details
- p.Cys126Tyr
- Ensembl rs1565661628
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.85
- MetaLR 0.77
- MetaSVM 0.89
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available