L43H (p.Leu43His) variant of AQP5 (Aquaporin-5)
L43H (p.Leu43His) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L43H (p.Leu43His) variant details
- p.Leu43His
- gnomAD 12-49962138-A-ACC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 18.50
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available