L79L (p.Leu79Leu) variant of AQP4 (Aquaporin-4)
L79L (p.Leu79Leu) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L79L (p.Leu79Leu) variant details
- p.Leu79Leu
- rs371804446
- gnomAD 18-26862392-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available