F76L (p.Phe76Leu) variant of AQP7 (Aquaporin-7)
F76L (p.Phe76Leu) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
F76L (p.Phe76Leu) variant details
- p.Phe76Leu
- 1000Genomes rs536416831
- ExAC rs536416831
- gnomAD rs536416831
- Missense
- Variant Prioritization Score for Impact Estimate 0.052
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.12
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available