W19C (p.Trp19Cys) variant of AQP7 (Aquaporin-7)
W19C (p.Trp19Cys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
W19C (p.Trp19Cys) variant details
- p.Trp19Cys
- TOPMed rs1477831537
- gnomAD rs1477831537
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.27
- CADD 0.90
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available