A126C (p.Ala126Cys) variant of AQP3 (Aquaporin-3)
A126C (p.Ala126Cys) in AQP3 (Aquaporin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A126C (p.Ala126Cys) variant details
- p.Ala126Cys
- gnomAD 9-33442968-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.813
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available