A57A (p.Ala57Ala) variant of AQP5 (Aquaporin-5)
A57A (p.Ala57Ala) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A57A (p.Ala57Ala) variant details
- p.Ala57Ala
- rs773450425
- gnomAD 12-49962188-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 1.36
- Population evidence available
- Structural context available
- Literature evidence available