L75L (p.Leu75Leu) variant of AQP4 (Aquaporin-4)
L75L (p.Leu75Leu) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L75L (p.Leu75Leu) variant details
- p.Leu75Leu
- gnomAD 18-26862404-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0862
- CADD 0.92
- Population evidence available
- Structural context available
- Literature evidence available