A9E (p.Ala9Glu) variant of DRD4 (D(4) dopamine receptor)
A9E (p.Ala9Glu) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD 11-637330-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.87
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available