L38L (p.Leu38Leu) variant of AQP2 (Aquaporin-2)
L38L (p.Leu38Leu) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L38L (p.Leu38Leu) variant details
- p.Leu38Leu
- rs774952238
- gnomAD 12-49950944-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 7.38
- Population evidence available
- Structural context available
- Literature evidence available