R23L (p.Arg23Leu) variant of AQP3 (Aquaporin-3)
R23L (p.Arg23Leu) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- TOPMed rs1158008302
- gnomAD rs1158008302
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.82
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available