L43del (p.Leu43del) variant of AQP1 (Aquaporin-1)
L43del (p.Leu43del) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L43del (p.Leu43del) variant details
- rs954915225
- gnomAD 7-30921731-GTCT-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 4.70
- Population evidence available
- Structural context available
- Literature evidence available