G54R (p.Gly54Arg) variant of AQP4 (Aquaporin-4)
G54R (p.Gly54Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- gnomAD 18-26862469-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available