L55L (p.Leu55Leu) variant of AQP2 (Aquaporin-2)
L55L (p.Leu55Leu) in AQP2 (Aquaporin-2) 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.
L55L (p.Leu55Leu) variant details
- p.Leu55Leu
- rs752819840
- gnomAD 12-49950993-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 5.95
- Population evidence available
- Structural context available
- Literature evidence available