G54* (p.Gly54Ter) variant of AQP4 (Aquaporin-4)
G54* (p.Gly54Ter) in AQP4 (Aquaporin-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G54* (p.Gly54Ter) variant details
- p.Gly54Ter
- gnomAD 18-26862469-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available