G89D (p.Gly89Asp) variant of AQP4 (Aquaporin-4)
G89D (p.Gly89Asp) 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.
G89D (p.Gly89Asp) variant details
- p.Gly89Asp
- gnomAD 18-26862363-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available