V63* (p.Val63Ter) variant of AQP5 (Aquaporin-5)
V63* (p.Val63Ter) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V63* (p.Val63Ter) variant details
- p.Val63Ter
- gnomAD 12-49962200-AC-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available