T143R (p.Thr143Arg) variant of AQP3 (Aquaporin-3)
T143R (p.Thr143Arg) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T143R (p.Thr143Arg) variant details
- p.Thr143Arg
- ExAC rs756763951
- TOPMed rs756763951
- gnomAD rs756763951
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.59
- CADD 27.80
- Population evidence available
- Structural context available