C126W (p.Cys126Trp) variant of DRD2 (D(2) dopamine receptor)
C126W (p.Cys126Trp) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C126W (p.Cys126Trp) variant details
- p.Cys126Trp
- ESP rs148478679
- ExAC rs148478679
- TOPMed rs148478679
- gnomAD rs148478679
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.74
- MetaLR 0.71
- MetaSVM 0.43
- CADD 28.40
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available