F50L (p.Phe50Leu) variant of AQP7 (Aquaporin-7)
F50L (p.Phe50Leu) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
F50L (p.Phe50Leu) variant details
- p.Phe50Leu
- TOPMed rs1824907373
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.33
- CADD 19.80
- PolyPhen-2 0.27
- SIFT 0.04
- Population evidence available
- Structural context available