F48L (p.Phe48Leu) variant of AQP4 (Aquaporin-4)
F48L (p.Phe48Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- ExAC rs769965179
- gnomAD rs769965179
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.75
- CADD 24.30
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available