L42L (p.Leu42Leu) variant of AQP2 (Aquaporin-2)
L42L (p.Leu42Leu) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1240491953
- gnomAD 12-49950956-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 8.75
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available