L11L (p.Leu11Leu) variant of AQP5 (Aquaporin-5)
L11L (p.Leu11Leu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs1373414214
- gnomAD 12-49962050-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 7.98
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available