L60L (p.Leu60Leu) variant of AQP5 (Aquaporin-5)
L60L (p.Leu60Leu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L60L (p.Leu60Leu) variant details
- p.Leu60Leu
- rs1187289790
- gnomAD 12-49962197-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 6.89
- Population evidence available
- Structural context available
- Literature evidence available