K3R (p.Lys3Arg) variant of AQP5 (Aquaporin-5)
K3R (p.Lys3Arg) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- gnomAD 12-49962023-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available