L50L (p.Leu50Leu) variant of AQP2 (Aquaporin-2)
L50L (p.Leu50Leu) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs756096963
- gnomAD 12-49950980-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 3.08
- Population evidence available
- Structural context available
- Literature evidence available