A20E (p.Ala20Glu) variant of DRD4 (D(4) dopamine receptor)
A20E (p.Ala20Glu) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- gnomAD 11-637363-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.00
- CADD 6.07
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available