C6Y (p.Cys6Tyr) variant of AQP5 (Aquaporin-5)
C6Y (p.Cys6Tyr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C6Y (p.Cys6Tyr) variant details
- p.Cys6Tyr
- gnomAD 12-49962034-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.21
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available