A57T (p.Ala57Thr) variant of AQP5 (Aquaporin-5)
A57T (p.Ala57Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- gnomAD 12-49962186-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.56
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available