E57K (p.Glu57Lys) variant of DRD3 (Dopamine receptor D3)
E57K (p.Glu57Lys) in DRD3 (Dopamine receptor D3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- ESP rs143935709
- ExAC rs143935709
- TOPMed rs143935709
- gnomAD rs143935709
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.62
- MetaSVM 0.39
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available