W59* (p.Trp59Ter) variant of AQP4 (Aquaporin-4)
W59* (p.Trp59Ter) 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.
W59* (p.Trp59Ter) variant details
- p.Trp59Ter
- gnomAD 18-26862452-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 38.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available