S9F (p.Ser9Phe) variant of AQP3 (Aquaporin-3)
S9F (p.Ser9Phe) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- ExAC rs754206115
- TOPMed rs754206115
- gnomAD rs754206115
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.23
- CADD 23.70
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available