A28del (p.Ala28del) variant of DRD4 (D(4) dopamine receptor)
A28del (p.Ala28del) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A28del (p.Ala28del) variant details
- gnomAD 11-637383-TCTG-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 6.50
- Most common in the Ashkenazi Jewish population (allele frequency 5.5e-05)
- Structural context available
- Literature evidence available