F99L (p.Phe99Leu) variant of AQP7 (Aquaporin-7)
F99L (p.Phe99Leu) in AQP7 (Aquaporin-7) 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 and structural context.
F99L (p.Phe99Leu) variant details
- p.Phe99Leu
- TOPMed rs941138025
- gnomAD rs941138025
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.29
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available