A57V (p.Ala57Val) variant of AQP5 (Aquaporin-5)
A57V (p.Ala57Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- gnomAD 12-49962187-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.15
- CADD 0.10
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available