H90R (p.His90Arg) variant of AQP4 (Aquaporin-4)
H90R (p.His90Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
H90R (p.His90Arg) variant details
- p.His90Arg
- ExAC rs750299550
- gnomAD rs750299550
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.87
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available