I91M (p.Ile91Met) variant of AQP4 (Aquaporin-4)
I91M (p.Ile91Met) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
I91M (p.Ile91Met) variant details
- p.Ile91Met
- ExAC rs767415035
- gnomAD rs767415035
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.86
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available