L21H (p.Leu21His) variant of AQP2 (Aquaporin-2)
L21H (p.Leu21His) in AQP2 (Aquaporin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L21H (p.Leu21His) variant details
- p.Leu21His
- rs1947323487
- gnomAD 12-49950886-C-CCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available