D8A (p.Asp8Ala) variant of DRD4 (D(4) dopamine receptor)
D8A (p.Asp8Ala) in DRD4 (D(4) dopamine receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D8A (p.Asp8Ala) variant details
- p.Asp8Ala
- gnomAD 11-637311-A-AACCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 23.60
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available