A28E (p.Ala28Glu) variant of DRD4 (D(4) dopamine receptor)
A28E (p.Ala28Glu) in DRD4 (D(4) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- gnomAD 11-637387-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -1.02
- CADD 15.90
- PolyPhen-2 0.06
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 3.9e-06)
- Structural context available
- Literature evidence available