L56L (p.Leu56Leu) variant of AQP5 (Aquaporin-5)
L56L (p.Leu56Leu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- gnomAD 12-49962183-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 2.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available