L43L (p.Leu43Leu) variant of AQP4 (Aquaporin-4)
L43L (p.Leu43Leu) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- gnomAD 18-26862500-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 9.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available