F18L (p.Phe18Leu) variant of AQP5 (Aquaporin-5)
F18L (p.Phe18Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- 1000Genomes rs540509756
- ExAC rs540509756
- gnomAD rs540509756
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.56
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available