I47L (p.Ile47Leu) variant of AQP4 (Aquaporin-4)
I47L (p.Ile47Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I47L (p.Ile47Leu) variant details
- p.Ile47Leu
- 1000Genomes rs201582782
- ExAC rs201582782
- TOPMed rs201582782
- gnomAD rs201582782
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.27
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.49
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available