G61* (p.Gly61Ter) variant of AQP5 (Aquaporin-5)
G61* (p.Gly61Ter) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G61* (p.Gly61Ter) variant details
- p.Gly61Ter
- gnomAD 12-49962198-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available