L59L (p.Leu59Leu) variant of AQP2 (Aquaporin-2)
L59L (p.Leu59Leu) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L59L (p.Leu59Leu) variant details
- p.Leu59Leu
- gnomAD 12-49951005-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.06
- MetaLR 0.80
- MetaSVM 0.30
- CADD 7.16
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available