L22L (p.Leu22Leu) variant of AQP5 (Aquaporin-5)
L22L (p.Leu22Leu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L22L (p.Leu22Leu) variant details
- p.Leu22Leu
- rs773360590
- gnomAD 12-49962083-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 8.23
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available