E4* (p.Glu4Ter) variant of AQP1 (Aquaporin-1)
E4* (p.Glu4Ter) in AQP1 (Aquaporin-1) 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.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- gnomAD 7-30911919-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available