A7E (p.Ala7Glu) variant of DRD4 (D(4) dopamine receptor)
A7E (p.Ala7Glu) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- gnomAD 11-637324-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -1.00
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available