G94S (p.Gly94Ser) variant of AQP4 (Aquaporin-4)
G94S (p.Gly94Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G94S (p.Gly94Ser) variant details
- p.Gly94Ser
- gnomAD 18-26862349-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.79
- MetaLR 0.89
- MetaSVM 0.96
- CADD 25.70
- PolyPhen-2 0.70
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available