F88S (p.Phe88Ser) variant of AQP4 (Aquaporin-4)
F88S (p.Phe88Ser) 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, published literature, and structural context.
F88S (p.Phe88Ser) variant details
- p.Phe88Ser
- gnomAD 18-26862366-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.87
- MetaLR 0.78
- MetaSVM 0.70
- CADD 25.00
- PolyPhen-2 0.48
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available