S9C (p.Ser9Cys) variant of AQP3 (Aquaporin-3)
S9C (p.Ser9Cys) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- ExAC rs754206115
- TOPMed rs754206115
- gnomAD rs754206115
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available