G12E (p.Gly12Glu) variant of AQP3 (Aquaporin-3)
G12E (p.Gly12Glu) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- TOPMed rs1326007663
- gnomAD rs1326007663
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.16
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available