L50L (p.Leu50Leu) variant of AQP4 (Aquaporin-4)
L50L (p.Leu50Leu) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs201758586
- gnomAD 18-26862479-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 7.91
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available