Q4L (p.Gln4Leu) variant of AQP3 (Aquaporin-3)
Q4L (p.Gln4Leu) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q4L (p.Gln4Leu) variant details
- p.Gln4Leu
- TOPMed rs1481293569
- gnomAD rs1481293569
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.49
- CADD 31.00
- PolyPhen-2 0.62
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available