R50Q (p.Arg50Gln) variant of AQP3 (Aquaporin-3)
R50Q (p.Arg50Gln) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- ExAC rs780493653
- TOPMed rs780493653
- gnomAD rs780493653
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.03
- CADD 18.10
- PolyPhen-2 0.21
- SIFT 0.54
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available