D12N (p.Asp12Asn) variant of DRD2 (D(2) dopamine receptor)
D12N (p.Asp12Asn) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- cosmic curated COSV10649
- gnomAD rs1308596174
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.06
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available