E17V (p.Glu17Val) variant of AQP5 (Aquaporin-5)
E17V (p.Glu17Val) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- gnomAD 12-49962064-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available