L79F (p.Leu79Phe) variant of AQP4 (Aquaporin-4)
L79F (p.Leu79Phe) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L79F (p.Leu79Phe) variant details
- p.Leu79Phe
- gnomAD 18-26862394-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.81
- MetaLR 0.77
- MetaSVM 0.61
- CADD 26.00
- PolyPhen-2 0.53
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available