L28L (p.Leu28Leu) variant of AQP2 (Aquaporin-2)
L28L (p.Leu28Leu) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- rs373926562
- gnomAD 12-49950914-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0826
- CADD 0.42
- Most common in the Latino/Admixed American population (allele frequency 0.00038)
- Structural context available
- Literature evidence available