D2H (p.Asp2His) variant of DRD2 (D(2) dopamine receptor)
D2H (p.Asp2His) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- TOPMed rs1194567680
- gnomAD rs1194567680
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.40
- MetaLR 0.44
- MetaSVM -0.05
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available