Q58H (p.Gln58His) variant of AQP5 (Aquaporin-5)
Q58H (p.Gln58His) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q58H (p.Gln58His) variant details
- p.Gln58His
- gnomAD 12-49962191-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.78
- CADD 21.70
- PolyPhen-2 0.55
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available