L39L (p.Leu39Leu) variant of AQP5 (Aquaporin-5)
L39L (p.Leu39Leu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L39L (p.Leu39Leu) variant details
- p.Leu39Leu
- gnomAD 12-49962132-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 6.03
- Population evidence available
- Structural context available
- Literature evidence available