L33F (p.Leu33Phe) variant of AQP1 (Aquaporin-1)
L33F (p.Leu33Phe) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- rs1173441383
- gnomAD 7-30921736-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 5.47
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available