V73G (p.Val73Gly) variant of AQP2 (Aquaporin-2)
V73G (p.Val73Gly) 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.
V73G (p.Val73Gly) variant details
- p.Val73Gly
- rs1451418775
- gnomAD 12-49951045-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available