Q44L (p.Gln44Leu) variant of AQP5 (Aquaporin-5)
Q44L (p.Gln44Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q44L (p.Gln44Leu) variant details
- p.Gln44Leu
- TOPMed rs1947431383
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.68
- CADD 24.30
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available