G78A (p.Gly78Ala) variant of AQP4 (Aquaporin-4)
G78A (p.Gly78Ala) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G78A (p.Gly78Ala) variant details
- p.Gly78Ala
- gnomAD 18-26862396-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.89
- MetaLR 0.70
- MetaSVM 0.47
- CADD 26.30
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available