R23Q (p.Arg23Gln) variant of AQP3 (Aquaporin-3)
R23Q (p.Arg23Gln) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- TOPMed rs1158008302
- gnomAD rs1158008302
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.72
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available