Q43K (p.Gln43Lys) variant of AQP1 (Aquaporin-1)
Q43K (p.Gln43Lys) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
Q43K (p.Gln43Lys) variant details
- p.Gln43Lys
- gnomAD 7-30921589-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0735
- CADD 0.17
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available