G145C (p.Gly145Cys) variant of AQP3 (Aquaporin-3)
G145C (p.Gly145Cys) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G145C (p.Gly145Cys) variant details
- p.Gly145Cys
- ExAC rs777633399
- TOPMed rs777633399
- gnomAD rs777633399
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.50
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available