F77V (p.Phe77Val) variant of AQP4 (Aquaporin-4)
F77V (p.Phe77Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
F77V (p.Phe77Val) variant details
- p.Phe77Val
- gnomAD 18-26862400-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.92
- MetaLR 0.84
- MetaSVM 0.91
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available