F130L (p.Phe130Leu) variant of AQP3 (Aquaporin-3)
F130L (p.Phe130Leu) in AQP3 (Aquaporin-3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
F130L (p.Phe130Leu) variant details
- p.Phe130Leu
- 1000Genomes rs2228332
- ESP rs2228332
- ExAC rs2228332
- TOPMed rs2228332
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available