D2N (p.Asp2Asn) variant of DRD2 (D(2) dopamine receptor)
D2N (p.Asp2Asn) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- TOPMed rs1194567680
- gnomAD rs1194567680
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.28
- MetaLR 0.43
- MetaSVM -0.07
- CADD 27.30
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available