L51L (p.Leu51Leu) variant of AQP4 (Aquaporin-4)
L51L (p.Leu51Leu) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- rs148022306
- gnomAD 18-26862476-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 10.10
- Population evidence available
- Structural context available
- Literature evidence available