S138L (p.Ser138Leu) variant of AQP3 (Aquaporin-3)
S138L (p.Ser138Leu) in AQP3 (Aquaporin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S138L (p.Ser138Leu) variant details
- p.Ser138Leu
- rs749786864
- ExAC rs749786864
- TOPMed rs749786864
- gnomAD rs749786864
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available