Q47P (p.Gln47Pro) variant of AQP1 (Aquaporin-1)
Q47P (p.Gln47Pro) in AQP1 (Aquaporin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q47P (p.Gln47Pro) variant details
- p.Gln47Pro
- rs1397895008
- gnomAD 7-30921739-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.38
- Population evidence available
- Structural context available
- Literature evidence available