R23G (p.Arg23Gly) variant of AQP3 (Aquaporin-3)
R23G (p.Arg23Gly) 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.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- ExAC rs762440965
- gnomAD rs762440965
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.80
- CADD 29.40
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available