L21L (p.Leu21Leu) variant of AQP2 (Aquaporin-2)
L21L (p.Leu21Leu) 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.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- rs147136099
- gnomAD 12-49950893-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 8.95
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available