D131N (p.Asp131Asn) variant of DRD2 (D(2) dopamine receptor)
D131N (p.Asp131Asn) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
D131N (p.Asp131Asn) variant details
- p.Asp131Asn
- cosmic curated COSV10582
- 1000Genomes rs549053606
- ExAC rs549053606
- gnomAD rs549053606
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.87
- MetaLR 0.88
- MetaSVM 1.06
- CADD 28.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available