L51L (p.Leu51Leu) variant of AQP5 (Aquaporin-5)
L51L (p.Leu51Leu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- gnomAD 12-49962168-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 5.44
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available