L33W (p.Leu33Trp) variant of AQP1 (Aquaporin-1)
L33W (p.Leu33Trp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L33W (p.Leu33Trp) variant details
- p.Leu33Trp
- rs1791505822
- gnomAD 7-30921735-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0758
- CADD 4.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available